| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Neonatal respiratory distress, Respiratory insufficiency due to defective... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Left Isomerism, Chronic sinusitis, Congenitally corrected transposition o... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Restrict... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Neonatal respiratory distress, Abnormal axonemal organization of respirat... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Ventricular septal defect, Nasal polypos... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Neonatal respiratory distress, Rhinitis, Respiratory insufficiency due to... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Cough, Chronic rhinitis, Bronchiectasis,... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Absent ou... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic sinusitis, Chronic pulmonary obstr... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic sinusitis, Chronic pulmonary obstr... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic sinusitis, Cough, Chronic rhinitis... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Bronchiecta... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Neonatal respiratory distress, Respiratory insufficiency due to defective... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Neonatal respiratory distress, Dextrocardia, Chronic sinusitis, Productiv... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Neonatal respiratory distress, Dextrocardia, Nasal polyposis, Respiratory... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Neonatal respiratory distress, Productive cough, Respiratory insufficienc... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhi... |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Nasal polyposis, Respiratory distress, Sinusitis, Bronchiec... |
OMIM:606763 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Cough, Decreased nasal nitric oxide, Abd... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Ciliary... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Nasal polyposis, Respiratory insufficiency due to defective ciliary clear... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Neonatal respiratory distress, Dextrocardia, Gastroesophageal reflux, Chr... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Neonatal respiratory distress, Abnormal axonemal organization of respirat... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Nasal polyposis, Decreased nasal nitric oxide, Short sperm flagella, Chro... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic sinusitis, Respiratory insufficien... |
OMIM:615504 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Asplenia, Atrioventricular canal defect, Polysp... |
OMIM:605376 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Total anomalous pulmonary venous re... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic sinusitis, Nasal polyposis, Produc... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis, Neonatal respiratory distress, Nasal polyposis, Respiratory insufficiency... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Chronic sinusitis, Asplenia, Nasal polyposis, Communicating hydrocephalus... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Neonatal respiratory distress, Cough, Decreased nasal nitric oxide, Bronc... |
OMIM:300991 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Atrial situs ambiguous, Chronic sinusitis, Asplenia, Productive cough, Ab... |
ORPHA:244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Atrioventricul... |
OMIM:306955 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic rhinitis, Short stature, Decreased nasal nitric oxide, Bro... |
OMIM:612649 |
| Dextrocardia |
|
Situs inversus totalis, Pancreatic hypoplasia, Dextrocardia, Hydrocephalus, Abnormal heart morpho... |
ORPHA:1666 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Congenitally corrected transpositio... |
OMIM:617205 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Encephalocele, Spinal dysraphism, Ventricular septal defect, Hydrocephalu... |
ORPHA:1908 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Myelomeningocele, Hydrocephalus, Restrictive ventilatory de... |
OMIM:613686 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Bronchiectasis, Rhinorrhea, Wheezing |
OMIM:617577 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Abnormality of mesentery morphology, Duodenal stenosis, Abdominal ... |
ORPHA:1198 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Dextrocardia, Anal atresia, Hydrocephalus, Atrioventricular canal defect, Neo... |
OMIM:314390 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal... |
OMIM:208530 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:604213 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Cough, Chronic lung disease, Decreased nasal nitric oxide, Double outlet right vent... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Pulmonary arterial hypertension, Dextrocardia, Ventricular septal defect,... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Absent/shortened outer dynein arms, Sinusitis, Abnormal respiratory mo... |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Absent central mic... |
OMIM:617091 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Tracheomalacia, Aglossia, Holoprosencephal... |
OMIM:202650 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, High palate, Asplenia, Polysplenia, Respiratory distress, Upper airway ob... |
OMIM:612776 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Pulmonic stenosis, Cholestasis, Periportal fibrosis, Aortic valve stenosi... |
OMIM:615382 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia |
OMIM:618801 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect,... |
OMIM:249270 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Short stature, Growth delay |
OMIM:614019 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Abnormal respiratory system physiology, Nasal polyposis, Chronic rhinitis, Absent respiratory cil... |
OMIM:242670 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Dextrocardia, Double inlet left ventricle, Duodenal atresia, Ventricular ... |
OMIM:270100 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Meningocele, Respiratory insufficiency, Hepatomegaly, Abnor... |
ORPHA:1759 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Gastroesophageal reflux, Hepatomegaly, Atrial septal defect |
OMIM:619881 |
| Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus, Aganglionic megacolon, Apnea, Episodic tach... |
ORPHA:475 |
| Cardiofacioneurodevelopmental Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Asplenia, Atrioventricular canal defect, Cleft pala... |
OMIM:619123 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Chronic sinusitis, Duodenal atresia, Primum atrial septal defect, Decreas... |
OMIM:619608 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Holoprosencephaly, Respiratory distress, Microglossia, Agenesis of corpus... |
ORPHA:990 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Cholestasis, Bile duct prolifer... |
OMIM:267010 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Intestinal malrotation, Dextrocardia, Hypoplasia of right ventricle, Atri... |
OMIM:616749 |
| Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Decreased nasal nitric oxide, Recurrent pneumon... |
OMIM:615294 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Productive cough, Bronchiectasis, Decreased nasal nitric oxide |
OMIM:615434 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Short stature, Hydrocephalus |
OMIM:303350 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Asplenia, Cholestasis, Hepatic fibrosis, Hepatomegaly,... |
OMIM:615415 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Asplenia, Atrial septal defect, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly |
ORPHA:2185 |
| Familial Visceral Myopathy |
|
Abdominal situs inversus, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607091 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Ciliary dyskinesia, Decreased nasal nitric oxide |
OMIM:615872 |
| 1Q21.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Tetralogy of Fallot, Hydrocephalus |
ORPHA:250994 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis, Obstructive sleep apnea |
OMIM:609008 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Anal atresia, Dextrocardia, Short stature, High palate |
ORPHA:2863 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Hepatomegaly, Neonatal death |
OMIM:614870 |
| Biemond Syndrome Ii |
|
Short stature, Hydrocephalus |
OMIM:210350 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Dextrocardia, Severe short stature, Bifid uvula, Hydrocephalus, Ventricul... |
ORPHA:2461 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
| Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Lobar holoprosencephaly, Alobar holoprosencephaly, Semilobar holopros... |
OMIM:609637 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Hydrocephalus, Respiratory insufficiency, Intrauterine growth retardation, He... |
OMIM:610333 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia |
OMIM:616726 |
| Band Heterotopia |
|
Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:600348 |
| Marden-Walker Syndrome |
|
High palate, Dextrocardia, Pyloric stenosis, Intrauterine growth retardation, Cleft palate, High,... |
OMIM:248700 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Hallermann-Streiff Syndrome |
|
Tracheomalacia, Respiratory insufficiency, High, narrow palate, Glossoptosis, Proportionate short... |
ORPHA:2108 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Dextrocardia, Hydrocephalus, Aganglionic megacolon, Cleft palate, Apnea, Abnormal ... |
ORPHA:220493 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Respiratory insufficiency, Aqueductal stenosis, Abnormal heart morph... |
OMIM:276950 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Abnormal heart valve morphology, Intrauterine growth retardation, Cleft pal... |
ORPHA:280 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Jaundice, Dextrocardia, Hepatomegaly, Hepatic cysts |
OMIM:613095 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
| Czeizel-Losonci Syndrome |
|
High palate, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta, T... |
ORPHA:2437 |
| Renpenning Syndrome |
|
Anal atresia, Severe short stature, Heterotaxy, Cleft palate, High, narrow palate, Growth delay |
ORPHA:3242 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Partial agenesis of the corpus callosum, Hydrocephalus, Aganglionic megacolon, Ventr... |
OMIM:304100 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Neonatal respiratory distress, Dextrocardia, Restrictive ventilato... |
ORPHA:2257 |
| Congenital Toxoplasmosis |
|
Jaundice, Hydrocephalus, Hepatomegaly, Intrauterine growth retardation, Ventriculomegaly, Cardiom... |
ORPHA:858 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Atrial septal defect, Abnormal heart mor... |
ORPHA:261197 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomalous pulmonary venous r... |
ORPHA:1330 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Anal atresia, Dextrocardia, Ventricular septal defect, Atrial septal defect, Hydro... |
OMIM:264480 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:619302 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, High, narrow palate, Azoospermia, Mitral valve prolapse |
ORPHA:2183 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Submuc... |
ORPHA:3426 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1532 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Growth delay |
ORPHA:488635 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Cleft palate, Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Left Isomerism, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, ... |
OMIM:619702 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Hydrocephalus |
OMIM:258320 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Short stature, Ciliary dyskinesia |
ORPHA:1882 |
| Fried Syndrome |
|
High palate, Hydrocephalus |
ORPHA:85335 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, As... |
OMIM:619657 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ventricular septa... |
OMIM:616816 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Ventricular septal defect, Hydrocephalus, Short stature, Ventriculomegaly, Agen... |
OMIM:218350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Mosaic Trisomy 9 |
|
High palate, Dextrocardia, Asplenia, Ventricular septal defect, Atrial septal defect, Spina bifid... |
ORPHA:99776 |
| Meckel Syndrome |
|
Situs inversus totalis, Encephalocele, Aplasia/Hypoplasia of the tongue, Asplenia, Hydrocephalus,... |
ORPHA:564 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:83473 |
| Coach Syndrome 2 |
|
Hydrocephalus, Congenital hepatic fibrosis, Hepatic fibrosis, Portal fibrosis, Agenesis of corpus... |
OMIM:619111 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Dysphagia, Episodic tachypnea, Meckel... |
ORPHA:163961 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Short stature, Hydrocephalus |
ORPHA:141333 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus... |
OMIM:220210 |
| Short Rib-Polydactyly Syndrome |
|
Situs inversus totalis, Abnormality of the liver, Hepatic fibrosis, Intrauterine growth retardati... |
ORPHA:1505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Respiratory insufficiency, Dandy-Walker malformation... |
OMIM:613153 |
| Acalvaria |
|
Cleft palate, Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Johanson-Blizzard Syndrome |
|
Anal atresia, Dextrocardia, Anteriorly placed anus, Malabsorption, Intrauterine growth retardatio... |
ORPHA:2315 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, High palate, Dysplastic pulmonary valve, Anteriorly placed anus, Hydr... |
OMIM:612863 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Short stature, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:618330 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Ellis Van Creveld Syndrome |
|
Situs inversus totalis, Dextrocardia, Atrial septal defect, Ventricular septal defect, Atrioventr... |
ORPHA:289 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, ... |
OMIM:613751 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
| 3C Syndrome |
|
Anal atresia, Gastroesophageal reflux, Intestinal malrotation, Hypoplastic left heart, Pulmonic s... |
ORPHA:7 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Hydrocephalus, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Meningocele, Bile ... |
OMIM:611134 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Secundum atrial septal defect, Ventricular septal defect, Cholestasis, At... |
OMIM:619534 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Atrial septal defect, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly,... |
ORPHA:93274 |
| 1Q44 Microdeletion Syndrome |
|
High palate, Intestinal malrotation, Hydrocephalus, Short stature, Ventriculomegaly, Growth delay... |
ORPHA:238769 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Gastroesophageal reflux, Partial agenesis of the corpus callosum, ... |
ORPHA:79243 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Growth delay, Tr... |
ORPHA:77298 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:216694 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Cholestasis, Hydrocephalus, Hepatic fibrosis, Hepatomegaly, Short stat... |
OMIM:615630 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Hypoplastic left heart, Tetralogy of Fallot, Atrial s... |
ORPHA:3097 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Hydrocephalus |
OMIM:618174 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:1528 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Tetralogy of Fallot, Abnormal heart morpholo... |
ORPHA:96092 |
| Temple Syndrome |
|
Postnatal growth retardation, Short stature, Bifid uvula, Hydrocephalus |
ORPHA:254516 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Triploidy |
|
Macroglossia, Intestinal malrotation, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine... |
ORPHA:3376 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly |
OMIM:175700 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Respiratory insufficiency, Intrauterine growth retardation, ... |
ORPHA:2655 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Hydrocephalus |
ORPHA:1516 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, High palate, Ileus, Hydrocephalus, Ventriculomegaly, High, narrow palate, Growth de... |
OMIM:620156 |
| Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Median cleft palate, Bifid uvula, Holoprosencephaly, Severe intrauterine ... |
ORPHA:1449 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Agenesis of corpus callosum |
OMIM:618929 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Dextrocardia, Glossitis, Atrial septal defect, Hepatomegaly, Short stature, Tracheoe... |
OMIM:277380 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Non Rare In Europe: Central Precocious Puberty |
|
Proportionate short stature, Hydrocephalus |
ORPHA:759 |
| Martsolf Syndrome 2 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619420 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Ventricular septal defect, Hydrocephalus, Atrial septal defe... |
OMIM:614576 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus |
OMIM:220220 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia |
OMIM:106700 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Respiratory insufficiency, Hydrocephalus, Intrauterine growth ret... |
ORPHA:1914 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Dysphagia, Inspiratory strido... |
OMIM:207950 |
| Knobloch Syndrome |
|
Dextrocardia, Occipital encephalocele, Pyloric stenosis, Hydrocephalus |
ORPHA:1571 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Frontal encephalocele, Hydrocephalus |
ORPHA:261102 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus |
OMIM:182940 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Intrauterine growth retardation, Hydrocephalus, Pyloric stenosis, Ventriculomegaly |
OMIM:616355 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus |
ORPHA:380 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Hydrocephalus |
ORPHA:2701 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Bile duct proliferation, Occipital encephalocele, Hepatic fibrosis, Hepatomegaly, ... |
OMIM:607361 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:2182 |
| Pagod Syndrome |
|
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Short s... |
ORPHA:991 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Intrauterine growth retardation, Ventr... |
OMIM:225790 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Hepatosplenomegaly, Severe short stature, Hydrocephalus, Tracheobronchomalacia, Abn... |
OMIM:309900 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Short stature, Hydrocephalus |
OMIM:300558 |
| Bresek Syndrome |
|
Hydrocephalus, Intrauterine growth retardation, Aganglionic megacolon, Cleft palate, Neonatal dea... |
ORPHA:85284 |
| Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Duodenal atresia, Ventricular septal defect, Hydrocephalus, Intrauterine grow... |
OMIM:300514 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Emanuel Syndrome |
|
Anal atresia, High palate, Gastroesophageal reflux, Pulmonic stenosis, Hydrocephalus, Ventricular... |
ORPHA:96170 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Neonatal breathing dysregulation, Lateral ventricle dilatation, Episodic ta... |
OMIM:608629 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Hepatomegaly, Hydrocephalus |
ORPHA:163596 |
| Emanuel Syndrome |
|
Anal atresia, High palate, Gastroesophageal reflux, Pulmonic stenosis, Ventricular septal defect,... |
OMIM:609029 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Cardiomyopathy, Lateral ventricle dilatation, Apnea, Subependymal cysts, Inspiratory stridor |
OMIM:600721 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Respiratory insufficiency, Lateral ventricle dilatation |
OMIM:617668 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Hydrocephalus, Abnormality ... |
ORPHA:1834 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus |
OMIM:307000 |
| Scimitar Syndrome |
|
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Ventricular septal defect,... |
ORPHA:185 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Short stature, Cleft palate, Slee... |
ORPHA:459061 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Decreased CSF glutamine concentration, Lateral ventricle dilatatio... |
OMIM:610015 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate, Dandy-Walker malformation, Hydrocephalus |
OMIM:147800 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Severe postnatal growth retardation, Lateral ventricle dilatation, Dil... |
ORPHA:3078 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Lateral ventricle dilatation |
OMIM:607596 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Short stature, Polysple... |
OMIM:614294 |
| Meacham Syndrome |
|
Dextrocardia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Ventricular sept... |
OMIM:608978 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
| Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
| Griscelli Syndrome |
|
Encephalocele, Jaundice, Pyloric stenosis, Hydrocephalus, Hepatomegaly, Short stature, Hepatitis,... |
ORPHA:381 |
| Metatropic Dysplasia |
|
Cleft palate, Severe short stature, Hydrocephalus |
ORPHA:2635 |
| Alexander Disease Type I |
|
Dysphagia, Hydrocephalus |
ORPHA:363717 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
| Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, High palate, Pyloric stenosis, Hydrocephalus, Respiratory failure ... |
OMIM:310400 |
| Hydrolethalus |
|
Tracheal atresia, Bifid uvula, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft pal... |
ORPHA:2189 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele, Short stature, Cleft palate, Microglossia |
OMIM:241800 |
| Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
| Halperin-Birk Syndrome |
|
Colpocephaly, High palate, Gastroesophageal reflux, Aspiration, Pseudobulbar paralysis, Intrauter... |
OMIM:618651 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Temple Syndrome |
|
High palate, Bifid uvula, Hydrocephalus, Intrauterine growth retardation, Short stature, Cleft pa... |
OMIM:616222 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Hydrocephalus |
OMIM:312190 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, High palate, Gastroesophageal reflux, Hydrocephalus, Intrauterine growth retardatio... |
OMIM:619833 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Ventricular septal defect, Left ventricular hypertrophy, Dextrotransposition of the... |
OMIM:618619 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Hydrocephalus, Cardiomyopathy, Occipital encephalocele, Ventriculomegaly, Agenesis ... |
ORPHA:370959 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Ventricular septal defect, Hydrocephalus, Intrauterine growth retardation, Cleft pal... |
OMIM:612938 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus, Cleft palate, A... |
ORPHA:1926 |
| Nephronophthisis 18 |
|
Cholestasis, Portal fibrosis, Hydrocephalus |
OMIM:615862 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Tracheobronchomalacia, Intrauterine growth retardation, Lateral ventri... |
OMIM:617751 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Myelomeningocele, Meningocele, Aqueductal... |
ORPHA:1136 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Short stature, Ventricular septal defect |
ORPHA:96097 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
| Pontocerebellar Hypoplasia, Type 13 |
|
High palate, Volvulus, Lateral ventricle dilatation, Sleep apnea, Pleural effusion, Asthma, Dandy... |
OMIM:618606 |
| Optic Pathway Glioma |
|
Hydrocephalus, Growth delay |
ORPHA:2086 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Pyloric stenosis, Hydrocephalus, Atrioventricular canal defect, Intrauterine ... |
ORPHA:2409 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| L1 Syndrome |
|
Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus |
ORPHA:275543 |
| Williams-Beuren Region Duplication Syndrome |
|
High palate, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:609757 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Intrauterine growth retardation, Abnormality of mesentery morphology, Cleft palate... |
ORPHA:2075 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Acute respiratory distress syndrome, Respiratory insufficiency, He... |
OMIM:617397 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Cleft palate, Lateral ventricle dilatation, Growth delay |
OMIM:615716 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2181 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Intrau... |
ORPHA:1780 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Rhombencephalosynapsis |
|
Anal atresia, Esophageal atresia, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly, Tracheo... |
ORPHA:59315 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis, Respiratory insufficiency |
ORPHA:2119 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, High palate, Partial agenesis of the corpus callosum, Ventricular septal defect, In... |
OMIM:620113 |
| Bilateral Generalized Polymicrogyria |
|
Gastroesophageal reflux, Short stature, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, ... |
ORPHA:208447 |
| Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Postn... |
ORPHA:2169 |
| Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Hydrocephalus, Cardiomyopathy, Abnormal heart valve morphology, Short stature, Hepa... |
OMIM:253220 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Short stature, Dextrotransposition of the great arteries,... |
OMIM:619995 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ventriculomegaly,... |
OMIM:618291 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Hydrocephalus |
OMIM:617542 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate, Hydrocephalus |
OMIM:243440 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Hydrocephalus |
ORPHA:398189 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Edinburgh Malformation Syndrome |
|
Respiratory insufficiency, Hydrocephalus |
ORPHA:1895 |
| Desmosterolosis |
|
Severe short stature, Bifid uvula, Hydrocephalus, Submucous cleft hard palate, Intrauterine growt... |
ORPHA:35107 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Dandy-Walker malformation, Lateral ventricle dilatation, Agenesis of corpus... |
OMIM:618736 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Intestinal malrotation, Hypoplastic left he... |
OMIM:618280 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Respiratory insufficiency, Hydrocephalus |
ORPHA:93262 |
| Fg Syndrome Type 1 |
|
Malrotation of colon, Anal atresia, High palate, Gastroesophageal reflux, Pyloric stenosis, Atria... |
ORPHA:93932 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:99125 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Anal atresia, High palate, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Tetral... |
OMIM:612582 |
| Crouzon Syndrome |
|
Respiratory insufficiency, Narrow palate, Hydrocephalus |
ORPHA:207 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Respiratory failure |
ORPHA:1861 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Transposition of the great arteries |
OMIM:313850 |
| Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:619955 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Intrauterine growth retardation, Short stature, Hydrocephalus |
OMIM:300863 |
| Trisomy 1Q |
|
Anal atresia, Ventricular septal defect, Hydrocephalus, Cleft palate, Ventriculomegaly, Agenesis ... |
ORPHA:261344 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:614219 |
| Trisomy 17P |
|
Macroglossia, High palate, Hypoplastic left heart, Hydrocephalus, Intrauterine growth retardation... |
ORPHA:261290 |
| Holoprosencephaly 14 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Ventricular septal defect, Aqueductal ste... |
OMIM:619895 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Hydrocephalus, Short stature, Double outlet right ventricle, Growth delay, ... |
OMIM:614886 |
| Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Pulmonary arterial hypertension, Tetralogy of... |
ORPHA:974 |
| Renpenning Syndrome 1 |
|
Situs inversus totalis, Anal atresia, High palate, Tetralogy of Fallot, Atrial septal defect, Ven... |
OMIM:309500 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Cholestasis, Abnormality of the liver, Hepatomegaly, Abnormal heart morphology, Di... |
ORPHA:398124 |
| Cach Syndrome |
|
Hepatosplenomegaly, Pancreatitis, Intrauterine growth retardation, Lateral ventricle dilatation, ... |
ORPHA:135 |
| Amelocerebrohypohidrotic Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1946 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Gastroesophageal reflux, Hydrocephalus, Abnormal cardiac atrium morphology, I... |
ORPHA:2306 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, S... |
OMIM:609053 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Anal atresia, Anteriorly placed anus, Ventricular septal defect, Hydrocephalus, Atr... |
OMIM:309801 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate, Apnea, Abnormal pattern of res... |
ORPHA:220497 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Severe short stature, Hydrocephalus, Rh... |
OMIM:616482 |
| Thanatophoric Dysplasia Type 1 |
|
Lethal short-limbed short stature, Atrial septal defect, Respiratory insufficiency, Hydrocephalus... |
ORPHA:1860 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:300573 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy, Hepatomegaly, Hepatic calcification... |
ORPHA:228308 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Tetrasomy 9P |
|
Pericarditis, Dextrocardia, High palate, Pulmonary arterial hypertension, Bifid uvula, Hydrocepha... |
ORPHA:3310 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Pulmonic stenosis, Hydrocephalus, Atrial septal defect, Duodenal atresia, Dandy-Walker malformati... |
OMIM:257300 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Hydrocephalu... |
ORPHA:1335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Respiratory insufficiency,... |
OMIM:253800 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Whipple Disease |
|
Myocarditis, Hydrocephalus, Malabsorption, Respiratory insufficiency, Cough, Hepatomegaly, Gastro... |
ORPHA:3452 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Lethal short-limbed short stature, Hydrocephalus, Neonatal death, ... |
OMIM:187600 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Short stature, Hydrocephalus |
ORPHA:31 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Growth delay,... |
OMIM:614424 |
| B4Galt1-Cdg |
|
Splenomegaly, Dandy-Walker malformation, Hepatomegaly, Hydrocephalus |
ORPHA:79332 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Increased intestinal transit time, Hydrocephalus, Cholestasis, Villous... |
OMIM:619377 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Disproportionate short-trunk short stature, Hydrocephalus |
OMIM:613330 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Hydrocephalus, Hepatomegaly, Short stature, Ventriculomegaly... |
OMIM:272200 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Malabsorption, Cough, Abnormal heart valve morphology, Short stature, Apnea, Sinus... |
ORPHA:579 |
| Cardiac Diverticulum |
|
Mitral stenosis, Dextrocardia, Partial anomalous pulmonary venous return, Endocarditis, Atrial se... |
ORPHA:1686 |
| Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle d... |
OMIM:616602 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return, Tetralogy of Fallot |
ORPHA:2184 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Intrauterine growth retardation, Short stature, Hydrocephalus |
ORPHA:163966 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Hydrocephalus, Ventriculomegaly, Pericardial effusion, Pleural effusion, Dandy-Walke... |
OMIM:617822 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Hydrocephalus, Median cleft lip and palate, Respiratory insufficiency,... |
OMIM:269860 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Abnormal heart morphology, Hydrocephalus |
OMIM:601499 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Gastroesophageal reflux, Hydrocephalus, Intrauterine growth retardation, Agenesis of... |
OMIM:612940 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Short stature, High palate, Hydrocephalus |
OMIM:616294 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Hydrocephalus, Respiratory insufficiency, Abnormal heart mor... |
ORPHA:1865 |
| Achondroplasia |
|
Central sleep apnea, Hydrocephalus, Restrictive ventilatory defect, Rhizomelia, Hypoxemia, Obstru... |
ORPHA:15 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus, Growth delay |
OMIM:617244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Agenesis of corpus callosum, Hydrocephalus |
OMIM:615249 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Growth delay |
ORPHA:85290 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Ventricular septal defect, Hydrocephalus |
OMIM:219730 |
| Glutaric Acidemia I |
|
Hepatomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Head tremor, Narcolepsy, Resting tremor |
ORPHA:314404 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Pfeiffer Syndrome Type 2 |
|
Anal atresia, High palate, Tracheomalacia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Resp... |
ORPHA:93259 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Anal atresia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:3301 |
| Carpenter Syndrome 2 |
|
Situs inversus totalis, High palate, Dextrocardia, Atrial septal defect, High, narrow palate, Nar... |
OMIM:614976 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Hydrocephalus |
ORPHA:2180 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Hydrocephalus, Ankyloglossia, Short stature |
OMIM:602361 |
| Albers-Schönberg Osteopetrosis |
|
Short stature, Hydrocephalus |
ORPHA:53 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
| Tenorio Syndrome |
|
Macroglossia, Gastroesophageal reflux, Hydrocephalus, Apnea, Ventriculomegaly, Recurrent pneumonia |
OMIM:616260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... |
OMIM:613154 |
| Stromme Syndrome |
|
Duodenal atresia, Hydrocephalus, Jejunal atresia, Cleft palate, Stillbirth, Accessory spleen, Int... |
OMIM:243605 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Anal atresia, Anteriorly placed anus, Intrahepatic cholestasis, Ventricul... |
OMIM:243800 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus, Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral steno... |
OMIM:231005 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Hydrocephalus, Short stature, Ventriculomegaly, Sleep apnea, Asthma, Dil... |
ORPHA:500055 |
| Apert Syndrome |
|
