| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... |
OMIM:208530 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 7 |
|
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... |
OMIM:611884 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... |
OMIM:270100 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Nephronophthisis 14 |
|
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia |
OMIM:614844 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurr... |
OMIM:615482 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries |
OMIM:614779 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... |
OMIM:615067 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... |
OMIM:608644 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... |
OMIM:615505 |
| Megalencephaly, Autosomal Dominant |
|
Megalencephaly, Hydrocephalus |
OMIM:155350 |
| Ciliary Dyskinesia, Primary, 18 |
|
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... |
OMIM:614874 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 16 |
|
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent out... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... |
OMIM:613807 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys |
OMIM:617610 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... |
OMIM:606763 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus |
OMIM:615938 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aor... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis, Abnormal resp... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... |
OMIM:617577 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... |
OMIM:618254 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... |
OMIM:614935 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Asplenia, Situs inversus totalis |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 40 |
|
Cough, Situs inversus totalis, Rhinitis, Abnormal heart morphology |
OMIM:618300 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... |
OMIM:613808 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... |
OMIM:612474 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... |
OMIM:306955 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... |
OMIM:615444 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... |
ORPHA:210122 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Recurrent urinary tract infections, Dextrocardia, Polycystic kidney dyspl... |
OMIM:613095 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia, Mi... |
OMIM:612776 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... |
ORPHA:1727 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:615994 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... |
OMIM:615937 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... |
ORPHA:1913 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Situs inversus totalis, Hypospadias |
OMIM:615985 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... |
ORPHA:3097 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Broad nasal tip, Overr... |
OMIM:601927 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glossoptosis, Overri... |
OMIM:616145 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Restrictive ventilatory defect, Situs inversus totalis, Unilateral vertebral artery hypoplasia, D... |
OMIM:613686 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... |
ORPHA:3304 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Nephronophthisis 2 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Respiratory insufficiency, Absence of ... |
OMIM:602088 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... |
ORPHA:3384 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypoplasia of the ... |
ORPHA:3426 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... |
OMIM:314390 |
| Dextrocardia |
|
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... |
ORPHA:1666 |
| Alexander Disease |
|
Increased CSF protein, Hydrocephalus, Diffuse demyelination of the cerebral white matter |
OMIM:203450 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
| Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheoma... |
OMIM:202650 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Cleft palate,... |
ORPHA:1926 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Patent ductus arte... |
OMIM:208540 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... |
ORPHA:1330 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mandibular prognathia, Pulmonic stenosis, Aortic root aneurysm, Persisten... |
OMIM:609008 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... |
OMIM:619123 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... |
ORPHA:477817 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis |
OMIM:616481 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... |
OMIM:604213 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Sinusitis... |
OMIM:244400 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiom... |
OMIM:617022 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Dilation of lateral ventricles |
ORPHA:141091 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... |
ORPHA:99050 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus |
OMIM:300864 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... |
OMIM:600348 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term |
OMIM:618782 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... |
OMIM:618845 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... |
OMIM:601186 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Inflammation of the large intestine, Chronic gastritis, Corpus callosum atrophy, Dysphagia, Ventr... |
OMIM:608809 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Normal pressure hydrocephalus |
OMIM:611808 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... |
OMIM:618164 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Ventricular septal d... |
ORPHA:79243 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... |
OMIM:615760 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Ventriculomegaly, Cerebral atrophy, CNS hypomyelination, Cerebral hypomyelination |
OMIM:601170 |
| Ciliary Dyskinesia, Primary, 21 |
|
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... |
OMIM:615294 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... |
OMIM:600001 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus |
OMIM:617244 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia, High palate |
ORPHA:2863 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... |
OMIM:612649 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... |
OMIM:615112 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... |
ORPHA:1110 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, High palate, Anteverted ... |
OMIM:617877 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex |
ORPHA:101071 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Microgastria-Limb Reduction Defects Association |
|
Secundum atrial septal defect, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megac... |
OMIM:156810 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Bulbous nose, Patent foramen ovale, Transposition of the great arteries, Depressed ... |
OMIM:616789 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... |
OMIM:618709 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:618316 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... |
ORPHA:1461 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... |
ORPHA:300573 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... |
OMIM:192430 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... |
OMIM:618280 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Gastroesophageal reflux, Wide nasal bridge, H... |
OMIM:616920 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles |
ORPHA:363654 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Delayed myelination, Gliosis, Cerebral atrophy, Small for gestational age, Microcephaly, CNS hypo... |
OMIM:615095 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydronephrosis, Hydroureter |
OMIM:264140 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Wide nasal b... |
ORPHA:1908 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... |
ORPHA:1909 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Dandy-Walker Syndrome |
|
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
| 8P23.1 Microdeletion Syndrome |
|
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... |
ORPHA:251071 |
| Pineocytoma |
|
Increased CSF protein, Hydrocephalus |
ORPHA:251912 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology |
OMIM:617744 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect |
OMIM:249270 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... |
ORPHA:2257 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... |
OMIM:277740 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Decreased nasal nitric oxide, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve morphology, E... |
ORPHA:99776 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia, Prominent nose |
OMIM:221950 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Alveolar c... |
OMIM:265380 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... |
OMIM:253300 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral cortex, Diffuse demyelinatio... |
ORPHA:168486 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... |
ORPHA:2255 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... |
OMIM:179613 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... |
ORPHA:99125 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Pachygyria, Delayed myelination, Ventriculomegaly, Microcephaly |
OMIM:617613 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Ventricular septal defect |
OMIM:616816 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Ververi-Brady Syndrome |
|
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... |
OMIM:617982 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microcephaly, Cerebral atrophy, Delayed myelination, Hydrocephalus |
OMIM:300884 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Ciliary Dyskinesia, Primary, 27 |
|
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Sinusitis,... |
OMIM:615504 |
| Thoraco-Abdominal Enteric Duplication |
|
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Duodenal... |
ORPHA:1759 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia, Neonatal respiratory distress, Upper airway obstruction |
OMIM:261800 |
| Orofaciodigital Syndrome Xvii |
|
Ventriculomegaly, High, narrow palate, Decreased body weight, Tetralogy of Fallot, CNS hypomyelin... |
OMIM:617926 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... |
ORPHA:2703 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter, Microcephaly, Diffus... |
ORPHA:77299 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... |
ORPHA:363444 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Respiratory di... |
ORPHA:990 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral atrophy, Cerebral hypomyelination, Failure to thrive, Microcephaly, CNS hypomyelination |
OMIM:300475 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Hydrocephalus |
ORPHA:99966 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... |
OMIM:267010 |
| Glutamine Deficiency, Congenital |
|
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, CNS hypomyelination, Dilat... |
OMIM:610015 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Delayed myelination, Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of later... |
OMIM:617296 |
| Thakker-Donnai Syndrome |
|
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... |
ORPHA:1780 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... |
ORPHA:2306 |
| Familial Visceral Myopathy |
|
Micrognathia, Prominent nasal bridge, Abdominal situs inversus, Anteverted nares |
ORPHA:2604 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral hypom... |
ORPHA:369939 |
| Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... |
OMIM:618619 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed CNS myelination, Periventricular leu... |
OMIM:618875 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Dysphagia, Wide nasal bridge, Patent foramen ovale, Hypoplastic spleen, Wid... |
ORPHA:89844 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Respiratory distress, Renal dysplasia, Renal cyst, Renal agenesis, Abnormali... |
OMIM:615993 |
| Hemimegalencephaly |
|
Pachygyria, Gliosis, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on... |
ORPHA:99802 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Delayed CNS myelination, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral ... |
OMIM:600721 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function, Ventricular septal defect |
ORPHA:306550 |
| Developmental And Epileptic Encephalopathy 14 |
|
Delayed myelination, Gliosis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Micro... |
OMIM:614959 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Abnormal nasal morphology |
ORPHA:3303 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Transposition of th... |
OMIM:313850 |
| 16P13.2 Microdeletion Syndrome |
|
Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, G... |
ORPHA:500055 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation |
ORPHA:1705 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... |
OMIM:610852 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Delayed myelination, Abnormal periventricular white matter morphology, Failure to... |
OMIM:616881 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure... |
ORPHA:284417 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... |
OMIM:608647 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, High palate, Microcephaly |
OMIM:612936 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... |
OMIM:614886 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... |
OMIM:300712 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Mitral valve prolapse |
OMIM:173900 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Gastrointestinal atresia, Interrupted aortic arch, Abnormal heart morphology, ... |
ORPHA:391641 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Microcephaly, Ventriculomegaly, Delayed myelination, CNS hypomyelination |
OMIM:618367 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... |
ORPHA:2248 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Micrognathia, Abdominal situs inversus, Wide nasal bridge, Depressed nasal bridge |
ORPHA:2062 |
| Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Hydrocephalus, Failure to thrive |
ORPHA:26 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, Recurrent pneumonia |
OMIM:616726 |
| Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... |
OMIM:617091 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Abnormal corti... |
ORPHA:2185 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Cerebral cortical hemiatrophy, Dilation of lateral ventricles |
ORPHA:306669 |
| Developmental And Epileptic Encephalopathy 86 |
|
Microcephaly, CNS hypomyelination, Small for gestational age |
OMIM:618910 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Micrognathia, Malar flattening, Hypoplasia of the... |
OMIM:241310 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Leukoencephalopathy, Hypoplasia of the corpus callosum, CNS hypomyelination, Spina bifida occulta |
OMIM:615281 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Diffuse white matter abnormalities, Microcephaly, Secondary microcephaly, Leukodystrophy |
OMIM:616763 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Leukodystrophy, Ventriculomegaly, Cerebral atrophy, Failure to thrive, Microcephaly |
OMIM:616034 |
| Maternal Phenylketonuria |
|
Abnormal heart morphology, Ventricular septal defect, Esophageal atresia, Wide nasal bridge, Doub... |
ORPHA:2209 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Hallermann-Streiff Syndrome |
|
Underdeveloped nasal alae, Natal tooth, Abdominal situs inversus, Choanal atresia, Tracheomalacia... |
ORPHA:2108 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Pulmonic ... |
OMIM:201000 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, High palate, Failure to thrive, Volvu... |
OMIM:618606 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... |
OMIM:242680 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... |
OMIM:618736 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Cessation of head growth, Leukoencephalopathy, Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect |
ORPHA:251076 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... |
OMIM:601612 |
| Developmental And Epileptic Encephalopathy 79 |
|
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Se... |
OMIM:618559 |
| Mungan Syndrome |
|
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmonic stenosis, Perimembranous v... |
OMIM:611376 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Ventriculomegaly, Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy |
OMIM:614946 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Abnormal respiratory system physiology, Ciliary dyskinesia, Sinusitis, Immotile cilia, Chronic rh... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 24 |
|
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis |
OMIM:615481 |
| Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
| Frontal Encephalocele |
|
Leukodystrophy, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, ... |
ORPHA:1931 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Transaldolase Deficiency |
|
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation... |
ORPHA:101028 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, High palate, Muscular ventricular septal defect, Wide n... |
OMIM:618804 |
| Developmental And Epileptic Encephalopathy 5 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, CNS hypomyelination, Progressi... |
OMIM:613477 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... |
ORPHA:163979 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles |
OMIM:618890 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... |
OMIM:614954 |
| Slc35A2-Cdg |
|
Delayed myelination, Cerebral white matter atrophy, Abnormal heart morphology, Hypoplasia of the ... |
ORPHA:356961 |
| Apert Syndrome |
|
Anomalous tracheal cartilage, Narrow palate, Ventricular septal defect, Choanal atresia, Esophage... |
OMIM:101200 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Hypoplasia of the corpus callosum, Increased CSF lactate, Microcephaly, CNS hypomyelinat... |
OMIM:616239 |
| Mental Retardation, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... |
OMIM:617751 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Renal... |
OMIM:228940 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... |
OMIM:145001 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality of the pulmonary... |
ORPHA:1166 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral cortical atrophy, F... |
OMIM:616420 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Anal ... |
OMIM:612946 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... |
OMIM:614300 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... |
ORPHA:3405 |
| Johnson Neuroectodermal Syndrome |
|
Cleft palate, Right aortic arch, Patent ductus arteriosus, Ventricular septal defect |
OMIM:147770 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... |
ORPHA:178469 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Macrocytic anemia, Cleft palate |
OMIM:614294 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Bronchiectasis |
OMIM:618801 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids |
|
Abnormal cerebral white matter morphology, CNS demyelination, Gliosis, Leukoencephalopathy |
OMIM:221820 |
| Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Abnormality of the larynx, Patent ductus arteriosus, Intestinal malrotation, Va... |
OMIM:249000 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Ventricular septal defect, Anal atresia, Overriding aorta, Anteriorly place... |
OMIM:309801 |
| Adducted Thumbs Syndrome |
|
Dysphagia, Myelin-dependent gliosis, High palate, Cerebral dysmyelination, Cleft palate, Microcep... |
OMIM:201550 |
| Short Rib-Polydactyly Syndrome |
|
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Hepatic cysts, Abnor... |
ORPHA:1505 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperintensity of cerebral w... |
ORPHA:527497 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, High palate, Depressed nasal b... |
OMIM:618929 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:264480 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... |
ORPHA:544488 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... |
ORPHA:2516 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Hepatocellular carcinom... |
ORPHA:88618 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Microcephaly, Gliosis, Cardiomyopathy |
OMIM:615119 |
| Masa Syndrome |
|
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:303350 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Open operculum, Absent septum pellucidum, Ventriculomegaly, Gastroesophageal reflux, Dandy-Walker... |
ORPHA:397715 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... |
ORPHA:208447 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia |
ORPHA:3316 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... |
OMIM:217085 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy, Abnormal periventricular white matter morphology |
OMIM:616370 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Dysphagia, Cerebral atrophy, Gliosis |
OMIM:618369 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:613154 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles |
OMIM:602200 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... |
ORPHA:449400 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Abnormal tracheobronchial morphology, Micrognathia, Trismus, Abnormal heart morphology |
OMIM:218450 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:249670 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination, Abnormal cerebral white matter morphology, Type II lissencephaly, Hydroceph... |
ORPHA:352682 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukodystrophy, Cerebral calcification, Leukoencephalopathy |
OMIM:614561 |
| Epilepsy, Hearing Loss, And Mental Retardation Syndrome |
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Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Failure to thrive |
OMIM:616577 |
| Ciliary Dyskinesia, Primary, 12 |
|
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... |
OMIM:612650 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal CNS myelination, Obesity |
ORPHA:521390 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... |
ORPHA:2876 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... |
OMIM:619313 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... |
ORPHA:84085 |
| Joubert Syndrome |
|
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, Polymic... |
ORPHA:475 |
| Kaya-Barakat-Masson Syndrome |
|
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral atrophy, Microcephaly |
OMIM:619125 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Aicardi Syndrome |
|
Cavum septum pellucidum, Spina bifida, Hiatus hernia, Pachygyria, Delayed CNS myelination, Choroi... |
OMIM:304050 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Dilation of lateral ventricles, Dilated fourth ventricle, Small for ge... |
ORPHA:3078 |
| Facial Dysmorphism With Multiple Malformations |
|
Short nose, Bulbous nose, Ventricular septal defect, Wide nasal bridge, Rectovaginal fistula, Ana... |
OMIM:227255 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Bicuspid aortic valve, ... |
ORPHA:397951 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate a... |
OMIM:614876 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... |
ORPHA:1667 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventr... |
OMIM:300952 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination, Cerebral atrophy |
OMIM:614482 |
| Aicardi-Goutieres Syndrome 4 |
|
Leukodystrophy, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcif... |
OMIM:610333 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Delayed myelinati... |
ORPHA:2148 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Wide nasal bridge, Cleft palate,... |
OMIM:280000 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Leukodystrophy, Dysphagia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, CNS hypo... |
OMIM:607694 |
| Developmental And Epileptic Encephalopathy 93 |
|
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral atrophy, Microcephaly |
OMIM:618012 |
| Digeorge Syndrome |
|
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... |
OMIM:188400 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Delayed myelination, Dilation of lateral ventricles |
ORPHA:85290 |
| Cach Syndrome |
|
T2 hypointense thalamus, Dysphagia, Cerebral atrophy, Microcephaly, Dysmyelinating leukodystrophy... |
ORPHA:135 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, High, narrow palate, Wide nasal... |
ORPHA:96092 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... |
OMIM:612561 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Hypoplasia of the corpus callosum, Gastroesophageal reflux, Cachexia, High palate, CNS hypomyelin... |
OMIM:618186 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Polymicrogyria, CNS hypomyelination, Failure to thrive, Lissencephaly |
OMIM:614883 |
| Feingold Syndrome 1 |
|
Accessory spleen, Polysplenia, Patent ductus arteriosus, Esophageal atresia, Wide nasal bridge, D... |
OMIM:164280 |
| Wolf-Hirschhorn Syndrome |
|
Short hallux, Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, Wi... |
ORPHA:280 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... |
ORPHA:464738 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Dilation of lateral ventricles, F... |
ORPHA:488627 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect |
OMIM:300887 |
| Fried Syndrome |
|
High palate, Cerebral calcification, Hydrocephalus |
ORPHA:85335 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly,... |
OMIM:616683 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal aortic morphology, Gastroesophageal reflux, Intestinal ... |
ORPHA:2059 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy, Hyperintensity of cerebral white matter on MRI |
OMIM:619224 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Interrupted aortic arch, Hepatic steatosis, Gastroesophageal reflu... |
ORPHA:17 |
| Glutaric Acidemia I |
|
Failure to thrive, Symmetrical progressive peripheral demyelination, Delayed myelination, Dilatio... |
OMIM:231670 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Severe demyelination of... |
ORPHA:488635 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia |
OMIM:600666 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia |
ORPHA:2111 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Ventriculomegaly, Abnormal cerebral white matter morphology, Truncal obesity, Small for ... |
OMIM:300957 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed myelination, Gliosis, Failure to thrive, Microcephaly, Agenesis of corpus callosum |
OMIM:214150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hydronephrosis, Hydroureter |
OMIM:618240 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Cardiomegal... |
OMIM:601005 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum |
OMIM:304100 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Small for gestational age, Dilation of lateral ventricles |
OMIM:619278 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Situs inversus totalis, Ventricular septal defec... |
ORPHA:289 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... |
ORPHA:229 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, Bulbous nose, Interrupted aortic arch, Patent ductus arteriosus, Wide nasal bridge... |
ORPHA:250989 |
| Developmental And Epileptic Encephalopathy 75 |
|
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Secondary... |
OMIM:618437 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... |
ORPHA:371428 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia of the nose, Absent gallbladder, Tetralogy of Fallot, Overriding aorta |
ORPHA:3186 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Delayed CNS myelination, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Pa... |
OMIM:619302 |
| Holoprosencephaly 5 |
|
Semilobar holoprosencephaly, Holoprosencephaly, High palate, Alobar holoprosencephaly, Lobar holo... |
OMIM:609637 |
| Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:239711 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Short nose, Abnormal heart morphology, Ventricular sept... |
ORPHA:401935 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ventriculomegaly, Cerebral calcification, Leukoencephalopathy, Microcephaly, Abnormal CNS myelina... |
OMIM:612951 |
| Lissencephaly, X-Linked, 2 |
|
Pachygyria, Gliosis, Ventriculomegaly, High palate, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... |
OMIM:613496 |
| Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Gliosis |
OMIM:125700 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... |
ORPHA:1923 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Pachygyria, Delayed myelination, Increased CSF lactate, Hypoplasia of the corpus callosum, Cerebr... |
OMIM:614922 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... |
ORPHA:261183 |
| Transaldolase Deficiency |
|
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Patent ductus... |
OMIM:606003 |
| Malan Overgrowth Syndrome |
|
High palate, Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles |
ORPHA:420179 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Trache... |
OMIM:619227 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect |
OMIM:601355 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... |
OMIM:132900 |
| Perlman Syndrome |
|
Interrupted aortic arch, Wide nasal bridge, Volvulus, Distal ileal atresia, Pancreatic islet-cell... |
OMIM:267000 |
| Johanson-Blizzard Syndrome |
|
Short nose, Underdeveloped nasal alae, Exocrine pancreatic insufficiency, Dextrocardia, Abnormali... |
ORPHA:2315 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
