| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... |
OMIM:618300 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... |
OMIM:608644 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Cili... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Neonatal respiratory distress, Wheezing, Situs inversus totalis, ... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Abnormal respiratory motile cilium morphology, Ciliary dysk... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Recurr... |
OMIM:612518 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615500 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... |
OMIM:614874 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:614017 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Situs inversus totalis, ... |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 9 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Chronic sinusitis, Ciliary ... |
OMIM:612444 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Immoti... |
OMIM:606763 |
| Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern |
OMIM:615752 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... |
OMIM:612650 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, Polysplenia... |
OMIM:612776 |
| Ciliary Dyskinesia, Primary, 35 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polypos... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Cough, Situs inversus totalis, Wheezing, Chronic sinusitis, Recurrent pneumon... |
OMIM:613808 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Neonatal respiratory distress, Br... |
OMIM:618063 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... |
OMIM:618254 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Asplenia, Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Chroni... |
OMIM:244400 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Situs inversus totalis, Dextrocardia, Missing ribs, Restr... |
OMIM:613686 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular s... |
OMIM:306955 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... |
OMIM:615382 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Abdominal situs inversus, Ventric... |
OMIM:619123 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the spleen, Abnormal lung lobation,... |
ORPHA:1666 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Mandibula... |
OMIM:609008 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia, Absent/sh... |
OMIM:610852 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... |
OMIM:619608 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus tot... |
OMIM:249270 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... |
OMIM:215520 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Familial Visceral Myopathy |
|
Anteverted nares, Micrognathia, Prominent nasal bridge, Abdominal situs inversus |
ORPHA:2604 |
| Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... |
OMIM:612649 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Micrognathia, Situs inversus... |
OMIM:202650 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Ven... |
ORPHA:1908 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Abdominal situs inversus |
ORPHA:2062 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Abnormal respiratory motile cilium morphology, Recurrent bronchitis, Ciliary dyskinesia, Immotile... |
OMIM:242680 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Mandibular a... |
ORPHA:990 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Ventriculomegaly |
OMIM:615763 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, Depressed nasal tip, Delayed eruption of teeth, Dextrocardia, Patent ductus arterio... |
ORPHA:2863 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly |
ORPHA:329228 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Microretrognathia, Wide nose, Patent foramen ovale, H... |
ORPHA:89844 |
| Hallermann-Streiff Syndrome |
|
Convex nasal ridge, Supernumerary tooth, Malar flattening, Short ribs, Small hand, Micrognathia, ... |
ORPHA:2108 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia, Prominent nose |
OMIM:221950 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory distress, Bronch... |
OMIM:615294 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia |
OMIM:218010 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:617091 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Hypoxemia, Micrognathia, Tachypnea, Dextrocardia, P... |
ORPHA:2257 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly |
OMIM:612691 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Depressed n... |
ORPHA:3426 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares |
OMIM:614069 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent... |
OMIM:106700 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... |
OMIM:616726 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly |
ORPHA:1084 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Depressed nasal ridge, Retrognathia, Micrognathia, Short nose, Mandibular a... |
ORPHA:1832 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly |
OMIM:618383 |
| Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Respiratory insufficiency, Dextrocardia, Missing ribs, Abnormal tricuspid valve mor... |
ORPHA:1759 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Bardet-Biedl Syndrome 17 |
|
Short fourth metatarsal, Hyposmia, Situs inversus totalis, Dextrocardia, Anosmia |
OMIM:615994 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial sp... |
OMIM:242670 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly |
ORPHA:2732 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ... |
OMIM:618433 |
| Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly |
ORPHA:1568 |
| Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure |
OMIM:602088 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Increased CSF protein, Astrocytosis |
ORPHA:204 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Ventriculomegaly, Astrocytosis |
OMIM:611087 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Micrognathia, Short nose, Malar flattening |
ORPHA:217340 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly |
ORPHA:171703 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... |
OMIM:220210 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased CSF lactate, Ventriculomegaly |
OMIM:618397 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Situs inversus totalis, Anteverted nares, Abnormal pattern of respirat... |
ORPHA:475 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... |
ORPHA:922 |
| Ventriculomegaly And Arthrogryposis |
|
Ventriculomegaly |
OMIM:619501 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Jaundice |
OMIM:613095 |
| Renpenning Syndrome |
|
Malar flattening, Heterotaxy, Broad columella, Prominent nose, Mandibular prognathia |
ORPHA:3242 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Micrognathia, Short hallux, Short thumb... |
ORPHA:280 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Patent ductus arteri... |
ORPHA:261120 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect |
OMIM:314390 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Ventriculomegaly |
OMIM:618677 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... |
ORPHA:1200 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Masa Syndrome |
|
Ventriculomegaly |
ORPHA:2466 |
| Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly |
OMIM:613402 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Vascular dilatation, Anteverted nares, Wide nasal bridge |
OMIM:616430 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Ventriculomegaly |
ORPHA:1261 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... |
ORPHA:99125 |
| Lissencephaly 1 |
|
Ventriculomegaly |
OMIM:607432 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
| Bowen-Conradi Syndrome |
|
Ventriculomegaly |
ORPHA:1270 |
| Distal Trisomy 5Q |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Carious teeth, Ventricular septal defect, D... |
ORPHA:96097 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Catel-Manzke Syndrome |
|
Micrognathia, Coarctation of aorta, Ventricular septal defect, Dextrocardia, Overriding aorta |
OMIM:616145 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly |
OMIM:616540 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... |
OMIM:155050 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
| Short Rib-Polydactyly Syndrome |
|
Short ribs, Depressed nasal bridge, Short tibia, Micromelia, Hepatic cysts, Situs inversus totali... |
ORPHA:1505 |
| Mental Retardation, X-Linked 91 |
|
Small hand, Short nose, Short 5th finger, Short foot |
OMIM:300577 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Peripheral arterial stenosis, Concave nasal ridge, Retinal arteriolar constriction |
OMIM:124950 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctation of aorta, ... |
OMIM:264480 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Ventriculomegaly |
ORPHA:3207 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... |
OMIM:601612 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Conical incisor, Atrial septal defect, Atrioventricular canal def... |
ORPHA:289 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Ventriculomegaly |
ORPHA:500166 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Laryngeal Abductor Paralysis |
|
Congenital laryngeal stridor |
OMIM:308850 |
| Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Pulmonary artery hypoplasia, Pulmonary hypoplasia... |
ORPHA:991 |
| Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly |
OMIM:618730 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Poland Syndrome |
|
Dextrocardia, Unilateral oligodactyly, Short ribs |
OMIM:173800 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Wide nasal bridge, Short thumb, Pulmonary artery atresia, Ventricular septa... |
ORPHA:401935 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly |
OMIM:616486 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ventriculomegaly |
OMIM:617862 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly |
OMIM:613925 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... |
ORPHA:2306 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Increased CSF lactate, Ventricular septal hypertrophy |
OMIM:614947 |
| Bilateral Striopallidodentate Calcinosis |
|
Ventriculomegaly |
ORPHA:1980 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Ventriculomegaly |
OMIM:619323 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Ventriculomegaly, Increased CSF protein |
OMIM:611722 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Ventriculomegaly |
OMIM:617613 |
| Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Abnormality of the nares, ... |
ORPHA:2315 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tracheomalacia, Accessory spleen,... |
OMIM:618280 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Tetralogy of Fallot, Short nose, Ventricular hypertrophy, Pulmonary arteria... |
OMIM:300887 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly |
OMIM:617977 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Short nose, Pulmonary hypoplasia, A... |
OMIM:241800 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, Micrognathia, Abnormality of dental eruption, Tetralogy of Fallot, Aplasia/Hypoplas... |
ORPHA:96092 |
| Non-Distal Trisomy 10Q |
|
Depressed nasal bridge, Short nose, Micrognathia, Convex nasal ridge |
ORPHA:1695 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Micrognathia, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1913 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Broad nasal tip, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, ... |
OMIM:615524 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Ventriculomegaly |
OMIM:617290 |
| Mosaic Trisomy 9 |
|
Bulbous nose, Atrial septal defect, Abnormal liver lobulation, Micrognathia, Micromelia, Endocard... |
ORPHA:99776 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short... |
OMIM:613458 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Odontochondrodysplasia |
|
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Micromelia... |
ORPHA:166272 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:83473 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Anemia, Abnormal aortic valve morphology, Vasculitis, Pulmonary arte... |
ORPHA:3287 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Short nose, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Abnormality of the... |
ORPHA:1248 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Broad nasal tip, Short nose, Malar flattening |
OMIM:613670 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Inherited Creutzfeldt-Jakob Disease |
|
Increased CSF protein, Astrocytosis |
ORPHA:282166 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Pulmonary hypoplasia, Spina ... |
ORPHA:2437 |
| Microlissencephaly |
|
Ventriculomegaly |
ORPHA:1083 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Ventriculomegaly |
ORPHA:1388 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Asthma, Mucoid extracellular matrix accumulation, Micrognathia, Myxomatous mitral valve degenerat... |
OMIM:130090 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Short palm, Patent ductus arteriosus |
ORPHA:79094 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia, Recurrent respiratory infections |
ORPHA:1882 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Supernumerary maxillary incisor |
ORPHA:199302 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:2515 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Cerebral artery atherosclerosis, Arterial stenosis, Coronary ar... |
ORPHA:1192 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short ribs, Depressed nasal bridge, Micromelia, Tachypnea, Short nose, Wide nose, Vascular dilata... |
OMIM:613320 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Micrognathia, Short nose, Short foot, Short metacarpal, Wide nasal bridge |
OMIM:614078 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Retrognathia, Micrognathia, Short nose, Anteverted na... |
ORPHA:2849 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Meckel Syndrome |
|
Depressed nasal ridge, Micrognathia, Pancreatic fibrosis, Accessory spleen, Congenital hepatic fi... |
ORPHA:564 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Depressed nasal bridge, Coarctation of aorta, Atrioventricular canal defect |
OMIM:618929 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly |
ORPHA:168624 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Depressed nasal bridge, Limb undergrowth, Short nose, Patent ductus arteriosus, Neona... |
OMIM:618961 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ventriculomegaly |
OMIM:225755 |
| Diabetic Embryopathy |
|
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Spinal dysraphism, Transposition o... |
ORPHA:1926 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Bulbous nose, Pulmonic stenosis, Depressed nasal bridge, Coarctation of ao... |
ORPHA:284169 |
| Marden-Walker Syndrome |
|
Hydrocephalus, Abnormal anatomic location of the heart, Ventricular septal defect, Dextrocardia, ... |
ORPHA:2461 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Ventriculomegaly |
OMIM:608716 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Ventriculomegaly |
ORPHA:85179 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
| Phaver Syndrome |
|
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... |
ORPHA:2876 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Dilated fourth ventricle, Coarctation of aorta, Tetralogy of Fallot, Ventri... |
ORPHA:261183 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Patent ductus arteriosus, Vascula... |
OMIM:220220 |
| Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
| Renpenning Syndrome 1 |
|
Bulbous nose, Atrial septal defect, Low hanging columella, Malar flattening, Micrognathia, Tetral... |
OMIM:309500 |
| Macdermot-Winter Syndrome |
|
Ventriculomegaly |
OMIM:247990 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Micrognathia, Short nose, Recurrent pneumonia |
ORPHA:1495 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ventriculomegaly |
OMIM:612936 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
| Lissencephaly 3 |
|
Ventriculomegaly |
OMIM:611603 |
| Gabriele-De Vries Syndrome |
|
Ventriculomegaly |
OMIM:617557 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose |
ORPHA:1450 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Micrognathia, Short nose |
ORPHA:2598 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Ventriculomegaly, Dandy-Walker malformation |
ORPHA:262767 |
| Prolidase Deficiency |
|
Asthma, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Micrognathia, Chronic lung disease, T... |
OMIM:170100 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Wide nose, Patent du... |
OMIM:613457 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Marden-Walker Syndrome |
|
Anteverted nares, Dextrocardia, Micrognathia, Pulmonary hypoplasia |
OMIM:248700 |
| Peho-Like Syndrome |
|
Retrognathia, Short nose |
OMIM:617507 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Short nose |
ORPHA:2370 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Short distal phalanx of toe, Micrognathia, ... |
OMIM:619356 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia |
OMIM:614744 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Chronic bronchitis, Malar flattening, Depressed nasal bridge, Micrognathia, T lymphocy... |
OMIM:242860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Microg... |
ORPHA:251071 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, Ventricular septal defect, Short nose, Thick nasal alae, ... |
ORPHA:79345 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... |
OMIM:619895 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aor... |
ORPHA:1166 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
| Diets-Jongmans Syndrome |
|
Low hanging columella, Heterotaxy, Broad nasal tip, Ventricular septal defect, Interrupted inferi... |
OMIM:618846 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegal... |
ORPHA:93274 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Abnormality of the abdominal organs, Atrioventricular canal defect, Retrognat... |
ORPHA:2409 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Dandy-Walker malformation |
ORPHA:217 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Short nose, Mandibul... |
ORPHA:391372 |
| Achondrogenesis Type 1A |
|
Micrognathia, Micromelia, Short nose, Short foot, Anteverted nares, Aplasia/Hypoplasia of the lun... |
ORPHA:93299 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... |
OMIM:313850 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
| Achondrogenesis |
|
Micrognathia, Micromelia, Short nose, Anteverted nares, Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Atrioventricular canal defect, Depressed nasal bridge, Cholestasis, Ventricular sep... |
OMIM:619534 |
| Alg3-Cdg |
|
Coarctation of the descending aortic arch, Neural tube defect, Pulmonary hypoplasia, Cardiomyopat... |
ORPHA:79321 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Short nose,... |
ORPHA:1529 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Small hand, Depressed nasal bridge, Micrognathia, Ventricular septal defect... |
OMIM:145420 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Ventriculomegaly, Abnormal ... |
ORPHA:261197 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1727 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Malar flattening, Depressed nasal bridge, Micrognathia, Short nose, Patent ductus arteriosus, Ant... |
ORPHA:171839 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Hydrocephalus, Azoospermia |
ORPHA:2183 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Broad nasal tip, Micrognathia, Mesomelia, Short nose, Anteverted nares, Wi... |
OMIM:618529 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
| Mirage Syndrome |
|
Lymphopenia, Aspiration pneumonia, Intracranial hemorrhage, Leukopenia, Patent ductus arteriosus,... |
OMIM:617053 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ventriculomegaly |
OMIM:618228 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Aqueductal stenosis, Ventriculomegaly |
OMIM:600907 |
| Achondrogenesis Type 1B |
|
Micrognathia, Micromelia, Short nose, Short foot, Anteverted nares, Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Short nose, Recurrent respiratory infections, Inspiratory stridor |
OMIM:618618 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Acromicric Dysplasia |
|
Bulbous nose, Small hand, Short nose, Anteverted nares, Short palm, Short metacarpal |
ORPHA:969 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Wide nose, Short nose, Pneumonia, Anteverted nares,... |
OMIM:300209 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Pulmonic stenosis, 11 pairs of ribs, Anterior open-bite malocclusion, Short nose, Tran... |
OMIM:617877 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Increased CSF protein, Astrocytosis |
OMIM:203700 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... |
ORPHA:2184 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Long nose, Narrow nose, Coarctation of aorta, Carious teeth, Ventricular se... |
OMIM:617602 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2516 |
| Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
| Autosomal Dominant Omodysplasia |
|
Malar flattening, Depressed nasal bridge, Micrognathia, Short humerus, Short 1st metacarpal, Shor... |
ORPHA:93328 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Atrial septal defect, Ventricular septal defect, Short nose, Patent ductus arterios... |
OMIM:613870 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Pulmonic stenosis, Pulmonary artery atresia, Ventricular septal de... |
OMIM:301056 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Ventriculomegaly, Tetralogy of Fallot |
OMIM:618624 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Ventriculomegaly |
OMIM:300699 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Ventriculomegaly |
OMIM:617090 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Ventriculomegaly |
OMIM:614946 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Joubert Syndrome With Ocular Defect |
|
Apnea, Dextrocardia, Anteverted nares, Abnormal pattern of respiration, Prominent nasal bridge |
ORPHA:220493 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Micrognathia, Short nose, Neonatal respiratory distress |
OMIM:615042 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Pierpont Syndrome |
|
Short toe, Malar flattening, Broad nasal tip, Short nose, Wide nose, Short foot, Short palm, Shor... |
OMIM:602342 |
| Glutamine Deficiency, Congenital |
|
Apnea, Depressed nasal bridge, Wide nasal bridge, Micromelia, Short nose, Neonatal respiratory di... |
OMIM:610015 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short nose, Thick nas... |
ORPHA:163961 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Micrognathia, Micromelia, Short nose, Aplasia/Hypoplasia of... |
ORPHA:2145 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ventriculomegaly |
OMIM:206570 |
| Codas Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, Short nose, Extrahe... |
ORPHA:1458 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Skraban-Deardorff Syndrome |
|
Ventriculomegaly |
OMIM:617616 |
| Distal Tetrasomy 15Q |
|
Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Hypoplastic ... |
ORPHA:314588 |
| Ring Chromosome 7 Syndrome |
|
Malar flattening, Small hand, Short 5th finger, Situs inversus totalis, Short nose, Anteverted na... |
ORPHA:1449 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventriculomegaly |
OMIM:618974 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Macrocytic anemia, Ventricular septal defect, Dextrocardia, C... |
OMIM:614294 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
| Hemimegalencephaly |
|
Gliosis, Ventriculomegaly |
ORPHA:99802 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... |
ORPHA:95430 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose |
ORPHA:2429 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Respiratory distress, Atrial se... |
ORPHA:210122 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Neuronal Intranuclear Inclusion Disease |
|
CSF pleocytosis, Ventriculomegaly, Increased CSF protein |
OMIM:603472 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose |
ORPHA:438178 |
| Fryns Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Pulmona... |
ORPHA:2059 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Microretrognathia, Recurrent respiratory infections |
ORPHA:1389 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Ventriculomegaly |
ORPHA:255182 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Depressed nasal bridge, Micrognathia, Short no... |
ORPHA:314655 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Dandy-Walker malformation |
OMIM:616901 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Short nose, Patent ductus arteriosus |
ORPHA:2547 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Short humerus, Wide nose, Short nose, Rhizomelia, Mandibular prognathia, S... |
ORPHA:2831 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Ventriculome... |
ORPHA:2655 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Ventriculomegaly |
OMIM:613151 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
| Kohlschutter-Tonz Syndrome |
|
Ventriculomegaly |
OMIM:226750 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Tracheomalacia, Retrognathia, Micrognath... |
OMIM:612561 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... |
ORPHA:2326 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly |
OMIM:218350 |
| Joubert Syndrome 31 |
|
Ventriculomegaly |
OMIM:617761 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Ventriculomegaly |
ORPHA:168486 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Trisomy 5P |
|
Ventriculomegaly |
ORPHA:1742 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ventriculomegaly |
ORPHA:1188 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Generalized arterial calcification, Dilated cardiomyopathy, Arteria... |
OMIM:208000 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Ventriculomegaly |
OMIM:617669 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Abnormal cardiac septum morphology, Bulbous nose, Depressed nasal bridge, ... |
OMIM:618454 |
| Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis, Abnormal heart morphology |
OMIM:276950 |
| Baker-Gordon Syndrome |
|
Sleep apnea, Short nose, Prominent nasal tip |
OMIM:618218 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Abnormal heart morphology |
DECIPHER:52 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Ventriculomegaly |
OMIM:618251 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
OMIM:617991 |
| Developmental And Epileptic Encephalopathy 70 |
|
Ventriculomegaly |
OMIM:618298 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Short nose, Hypertrophic cardiomyopathy, Micrognathia |
OMIM:617183 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly |
ORPHA:2172 |
| Edinburgh Malformation Syndrome |
|
Micrognathia, Respiratory insufficiency, Short nose, Choanal atresia, Anteverted nares |
ORPHA:1895 |
| Carpenter Syndrome 2 |
|
Dental malocclusion, Atrial septal defect, Retrognathia, Depressed nasal bridge, Aplasia of the m... |
OMIM:614976 |
| L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:613443 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Ventriculomegaly |
OMIM:616531 |
| Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Short nose, Narrow nasal bridge |
ORPHA:1514 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Short nose |
OMIM:605309 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly |
OMIM:614483 |
| Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ventriculomegaly |
OMIM:618273 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short ribs, Short femur, Micrognathia, Wide nasal bridge, Ventricular septal defect, Limb undergr... |
OMIM:616897 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly |
OMIM:619150 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Increased CSF lactate, Hypertrophic cardiomyopathy |
|
