| Ciliary Dyskinesia, Primary, 7 |
|
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... |
OMIM:611884 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries |
OMIM:614779 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Abdominal situs ambiguus, Ventr... |
OMIM:208530 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... |
OMIM:270100 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Dextrocardia, Double outlet right ... |
OMIM:605376 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections |
OMIM:215520 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Asplenia, Situs inversus totalis |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 25 |
|
Chronic pulmonary obstruction, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurr... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... |
OMIM:608644 |
| 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 |
| Ciliary Dyskinesia, Primary, 16 |
|
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Pulmonary insufficiency, Cilia... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... |
OMIM:616037 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Nephronophthisis 14 |
|
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia |
OMIM:614844 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... |
OMIM:612444 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Abnormal heart morphology |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 18 |
|
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... |
OMIM:614679 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 10 |
|
Ciliary dyskinesia, Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis |
OMIM:612518 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... |
OMIM:615382 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 6 |
|
Recurrent sinusitis, Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent respirat... |
OMIM:610852 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... |
OMIM:306955 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis |
OMIM:616481 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... |
OMIM:618063 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomega... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... |
OMIM:613808 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... |
OMIM:615444 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia, Situs inversus totalis |
OMIM:612776 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... |
OMIM:617092 |
| Dextrocardia |
|
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... |
ORPHA:1666 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... |
OMIM:231060 |
| Scimitar Syndrome |
|
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior... |
ORPHA:185 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis, Hypoplastic left heart |
OMIM:236110 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Abnormal sperm head morphology, Oligospermia, Abnormal axonemal organizati... |
OMIM:618433 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia, Primary, 21 |
|
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... |
OMIM:615294 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615994 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyr... |
ORPHA:171703 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... |
ORPHA:261183 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Growth delay, Cerebral atrophy, Respiratory insufficiency, Hearing impairment, Cerebell... |
OMIM:617899 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Sinusitis... |
OMIM:244400 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... |
ORPHA:2257 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... |
ORPHA:3097 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Decreased nasal nitric oxide, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... |
ORPHA:70589 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Cerebral atrophy, Diffuse s... |
OMIM:613925 |
| Nephronophthisis 2 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Respiratory insufficiency, Absence of ... |
OMIM:602088 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Dextrocardia, Polycyst... |
OMIM:613095 |
| Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Aglossia, Laryngeal hypoplasia,... |
OMIM:202650 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Aminoaciduria, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pu... |
OMIM:268500 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, P... |
ORPHA:210122 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Congenital unilateral pulmonary hypoplasia |
|
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... |
ORPHA:2258 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Familial Nasal Acilia |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Abn... |
ORPHA:922 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Dextrocardia, Restrictive ventilatory defect, Situs inver... |
OMIM:613686 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Hyperactivity, M... |
OMIM:613402 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... |
OMIM:619123 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Short statur... |
OMIM:616192 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Depressed nasal tip, Pa... |
ORPHA:2863 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal resp... |
OMIM:612649 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... |
OMIM:612474 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Cerebella... |
OMIM:617862 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... |
ORPHA:2184 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Recurrent bronchitis, Nasal polyposis, Abnormal respiratory motile cilium morphology, Sinusitis |
OMIM:242680 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... |
ORPHA:1727 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... |
ORPHA:1120 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:615268 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Persistent left superior vena ca... |
OMIM:609008 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Renal... |
OMIM:228940 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate, Micrognathia, Prominent nose |
OMIM:221950 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Hydrocephalus,... |
OMIM:314390 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... |
ORPHA:1913 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... |
ORPHA:401935 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... |
OMIM:618021 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... |
OMIM:249270 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... |
OMIM:604213 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent respiratory ... |
OMIM:612650 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased proportion of CD8-positive T cells, Pulmonary fibrosis, Secundum atrial... |
OMIM:611926 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... |
OMIM:234810 |
| Megalencephaly, Autosomal Dominant |
|
Macrocephaly, Megalencephaly, Hydrocephalus |
OMIM:155350 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Ciliary Dyskinesia, Primary, 27 |
|
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... |
OMIM:615504 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Wide nasal b... |
ORPHA:1908 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:115210 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... |
OMIM:613426 |
| Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic s... |
OMIM:618699 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Respiratory distress, Hypoplasia of the corpus callosum, Mandibular prognathia... |
OMIM:618006 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnormality of the panc... |
ORPHA:1926 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... |
ORPHA:99125 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus |
OMIM:615938 |
| Seckel Syndrome 9 |
|
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia,... |
OMIM:616777 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology |
OMIM:617744 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebral white... |
OMIM:618730 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... |
OMIM:611555 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palat... |
OMIM:261800 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Intestinal malro... |
ORPHA:3426 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... |
OMIM:611556 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... |
OMIM:612946 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys |
OMIM:617610 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... |
OMIM:208540 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... |
OMIM:253700 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Respiratory distress, Renal dysplasia, Renal cyst, Renal agenesis, Abnormali... |
OMIM:615993 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... |
OMIM:616726 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Microglossia, Hypoplasia of pen... |
ORPHA:990 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Vesi... |
OMIM:614261 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... |
ORPHA:216694 |
| Diamond-Blackfan Anemia 7 |
|
Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Choanal atresia, Neutropen... |
OMIM:612562 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Macrocephaly, ... |
OMIM:618709 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Intestinal malrotation... |
OMIM:156810 |
| Ciliary Dyskinesia, Primary, 24 |
|
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... |
OMIM:608647 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... |
OMIM:267010 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Increased muscle lipid content, Microretrognathia, Congenital mus... |
ORPHA:324604 |
| Pulmonary Hypertension, Primary, 1 |
|
Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Increased pul... |
OMIM:178600 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation |
OMIM:614023 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Cerebral atrophy, Ataxia, Respiratory insufficiency, Wide nasal bridge, Cerebellar atrophy... |
OMIM:610127 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Periv... |
OMIM:618468 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Ventriculomegaly, Patent ductus arteriosus, Pulmonic stenosis, Neonata... |
OMIM:618164 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... |
ORPHA:392 |
| Mosaic Trisomy 9 |
|
Spina bifida, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve... |
ORPHA:99776 |
| Extracranial Carotid Artery Aneurysm |
|
Arterial fibromuscular dysplasia, Arteritis, Arteriosclerosis, Atherosclerosis, Vasculitis, Total... |
ORPHA:494424 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... |
OMIM:615937 |
| Alexander Disease |
|
Increased CSF protein, Progressive macrocephaly, Hydrocephalus, Ataxia |
OMIM:203450 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment |
OMIM:117210 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic gait, Cerebellar... |
OMIM:611252 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Cat Eye Syndrome |
|
Abnormal heart morphology, Micrognathia, Intestinal malrotation, Absent radius, Anal atresia, Cle... |
OMIM:115470 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Abnormal respiratory system physiology, Ciliary dyskinesia, Sinusitis, Immotile cilia, Chronic rh... |
OMIM:242670 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... |
OMIM:601493 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, High-frequency hearing impairment, Atelectasis, Chronic sinusitis, Otitis m... |
OMIM:300455 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent sinusitis, Neonatal resp... |
OMIM:617091 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... |
ORPHA:1909 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Hearing impairment, Cerebellar atrophy, Waddling gait, Short stature, Microcephaly |
OMIM:619090 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Respiratory... |
ORPHA:1759 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Bronchiectasis |
OMIM:618801 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Alveolar c... |
OMIM:265380 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... |
OMIM:618845 |
| 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 |
| White Forelock With Malformations |
|
Bronchomalacia, Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... |
OMIM:618280 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Microcephaly, Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy |
OMIM:618741 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... |
OMIM:253300 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... |
OMIM:265450 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Gait ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Central apnea, Cerebellar atrop... |
ORPHA:320385 |
| Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium |
OMIM:619143 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... |
OMIM:611726 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Microcephaly |
OMIM:614322 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Dyspnea, Respiratory distress, Short nose, Posteriorly rotated ears, Respirat... |
ORPHA:1832 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary... |
OMIM:616866 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Short nose, Macrotia, Growth delay, Cerebellar atrophy, Short stature, Progres... |
ORPHA:438178 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Secundum atrial septal defect, Anemia |
OMIM:223350 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Hypoplasia of the corpus callosum, Abnormal pons morphology, Cerebellar corti... |
ORPHA:171622 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... |
OMIM:613424 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... |
OMIM:604169 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology |
DECIPHER:39 |
| 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 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Obstructive sleep apnea, Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect,... |
OMIM:617877 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalaci... |
OMIM:615889 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly |
OMIM:618276 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Gastroesophageal reflux, Patent ductus arteriosus, Right ventricular hypertrophy, Pulmonary arter... |
OMIM:613623 |
| Aminoacylase 1 Deficiency |
|
Cerebral atrophy, Wide nasal bridge, Cerebellar atrophy, Sensorineural hearing impairment, Hypera... |
OMIM:609924 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Respiratory insuffici... |
OMIM:610333 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Patent ductus arteriosus, Pulm... |
OMIM:179613 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, High, narrow palate, Antev... |
OMIM:616920 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Microphallus, Abnormal heart morphology, Trismus, Abnormal tracheobronchial morphology, Micrognat... |
OMIM:218450 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:618316 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Abnormal paranasal sinus morphology, Abnormal periventricular white matter morphology, ... |
ORPHA:306741 |
| Atypical Teratoid Rhabdoid Tumor |
|
Macrocephaly, Cerebral calcification, Hydrocephalus, Ataxia |
ORPHA:99966 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... |
OMIM:600001 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Fragile X Syndrome |
|
Mandibular prognathia, Chronic otitis media, Cerebral cortical atrophy, Protruding ear, Sinusitis... |
ORPHA:908 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly |
OMIM:608278 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... |
ORPHA:217563 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Nescav Syndrome |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Microcephaly |
OMIM:614255 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Prominent nose, Secundum atrial septal defect, Broad nasal tip |
OMIM:618665 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Respiratory insufficiency, Pulmonic ... |
ORPHA:1461 |
| Monosomy 18Q |
|
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Hydroceph... |
ORPHA:1600 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Chronic kidney disease, Hypoplastic left heart |
OMIM:617661 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... |
ORPHA:991 |
| Poland Syndrome |
|
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... |
OMIM:173800 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... |
ORPHA:2255 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Cough, Lethargy, Sinusitis |
ORPHA:163703 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellar vermis, Macr... |
OMIM:300864 |
| Keutel Syndrome |
|
Short hallux, Recurrent bronchitis, Ventricular septal defect, Emphysema, Peripheral pulmonary ar... |
OMIM:245150 |
| Pancreatic And Cerebellar Agenesis |
|
Apnea, Secundum atrial septal defect, Death in infancy, Pancreatic hypoplasia, Anemia |
OMIM:609069 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Epistaxis, Pulmonic stenosis, Broad nasal tip, Prominent nasal bridge, Common ... |
ORPHA:96168 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Gait ataxia, Spastic ataxia, Mild hearing impairment, Cerebral cortical atrophy, Hearin... |
OMIM:611390 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus, Cerebellar agenesis |
OMIM:307010 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
| Spinocerebellar Ataxia Type 31 |
|
Hearing impairment, Gait ataxia, Cerebellar atrophy |
ORPHA:217012 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
| 8P23.1 Microdeletion Syndrome |
|
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... |
ORPHA:251071 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... |
OMIM:253240 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... |
OMIM:612158 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... |
OMIM:614069 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Microretrognathia, Short nose |
OMIM:218010 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Jaw swelling, Ventriculomegaly, Gait ataxia, Cerebellar atrophy |
OMIM:619323 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glossoptosis, Overri... |
OMIM:616145 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Gait disturbance, Macrocephaly, Normal pressure hydrocephalus |
OMIM:611808 |
| Dystonia 23 |
|
Axial dystonia, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Torticollis, Cerebel... |
OMIM:614860 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Pulmonary arterial hypertension, ... |
ORPHA:99105 |
| Pulmonary Capillary Hemangiomatosis |
|
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... |
ORPHA:199241 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, C... |
ORPHA:168486 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia, Wide nasal bridge |
OMIM:618302 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar atrophy, Atroph... |
OMIM:611523 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Pulmo... |
OMIM:616733 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Anomalous pulmonary venous return, Respiratory insufficiency, Abnormalit... |
ORPHA:2311 |
| Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis |
OMIM:312863 |
| 14Q11.2 Microdeletion Syndrome |
|
Short nose, Ventricular septal defect, Patent ductus arteriosus, High palate, Micrognathia, Depre... |
ORPHA:261120 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Dyspnea, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613873 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo... |
OMIM:612692 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Cerebellar hypoplasia, Cerebellar a... |
ORPHA:488635 |
| Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... |
OMIM:618973 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Hepatomegaly, Jaundice, Glossoptosis, Elevated circu... |
OMIM:614876 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... |
ORPHA:86812 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Short stature, Macrocephaly, Microcephaly, Agenesis of corpus ca... |
OMIM:303350 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Pineocytoma |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251912 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... |
OMIM:264480 |
| Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares, Ventricular septal defect, Ventriculomegaly, Left ventricular hyper... |
OMIM:618619 |
| Desmosterolosis |
|
Anomalous pulmonary venous return, Short nose, Micromelia, Abnormality of the nose, Patent ductus... |
ORPHA:35107 |
| Dandy-Walker Syndrome |
|
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... |
OMIM:220200 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Microphthalmia, Syndromic 9 |
|
Single ventricle, Patent ductus arteriosus, Respiratory insufficiency, Pelvic kidney, Congenital ... |
OMIM:601186 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615957 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... |
OMIM:600348 |
| Cleft Lip With Or Without Cleft Palate |
|
Hearing impairment, Recurrent otitis media, Chronic sinusitis |
ORPHA:1991 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... |
OMIM:614886 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy |
ORPHA:98766 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Burn-Mckeown Syndrome |
|
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... |
ORPHA:1200 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... |
ORPHA:353 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Unsteady gait, Spastic gait, Scissor gait |
ORPHA:101010 |
| Immunodeficiency 51 |
|
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Rhizomelia, Camptodactyly, High palate, Wide nasal bridge, Cleft palate, Sma... |
OMIM:611209 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Wide nose |
ORPHA:251076 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Hematuria, Renal hypoplasia, Renal tubular acidosis, Pulmonic stenosis, Ren... |
OMIM:610205 |
| Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Lethargy, Gait disturbance, Microcephaly, Hydrocephalus |
ORPHA:26 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
ORPHA:211017 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Ventriculomegaly, Abnormal cerebral white matter morphology, Ataxia, Brady... |
ORPHA:248111 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, Increased urine succi... |
OMIM:619048 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... |
ORPHA:2703 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Respiratory insuffic... |
ORPHA:1166 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:212780 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Anteverted nares, Short nose, Cleft palate |
ORPHA:2015 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... |
OMIM:192430 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... |
ORPHA:163979 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Micrognathia... |
OMIM:208085 |
| Lissencephaly 5 |
|
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... |
OMIM:615191 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Difficulty walking, Progressive gait ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, C... |
ORPHA:284332 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Left ventricular hypertrophy |
OMIM:616974 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... |
ORPHA:300573 |
| Fried Syndrome |
|
Macrotia, Gait disturbance, Hearing impairment, Abnormal cerebellum morphology, Cerebral calcific... |
ORPHA:85335 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Hydroc... |
OMIM:313850 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... |
ORPHA:3304 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... |
OMIM:601495 |
| Transaldolase Deficiency |
|
Cirrhosis, Atrial septal defect, Abnormal respiratory system physiology, Biventricular hypertroph... |
ORPHA:101028 |
| 17Q21.31 Microduplication Syndrome |
|
Short nose, Malar flattening, High palate, Micrognathia, Anteverted nares |
ORPHA:217340 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Respiratory distress, Increased CSF lactate, Neuronal loss in basal gangli... |
OMIM:604377 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia |
ORPHA:3316 |
| Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Wheezing, Anomalous origin of left pulmo... |
ORPHA:141127 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Absent pubertal growth spurt, Neurodegeneration, Hearing impairment, Cerebellar atro... |
ORPHA:438134 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Abnormal heart valve morphology, High palate, Centrally nucleated skeletal musc... |
ORPHA:169186 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Tachypnea, Elevated pulmonary artery pressure, Complete atrioventricular canal defect, ... |
ORPHA:1329 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia |
ORPHA:2111 |
| Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:270460 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Abnormal cardiac septum morphology, Renal cyst |
OMIM:615583 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis |
OMIM:615542 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect, Anemia |
OMIM:617408 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Cerebellar atrophy, Short stature, Simplified gyral pattern, Intrauterine growt... |
OMIM:616171 |
| Joubert Syndrome |
|
Apnea, Situs inversus totalis, Anteverted nares, Episodic tachypnea, Aganglionic megacolon, Abnor... |
ORPHA:475 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Limb dysmetria, Diffuse cerebellar atrophy, Gait disturbance,... |
ORPHA:363710 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Ataxia |
OMIM:600143 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| B4Galt1-Cdg |
|
Macrocephaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia... |
ORPHA:718 |
| Renpenning Syndrome |
|
Mandibular prognathia, High, narrow palate, Cleft palate, Anal atresia, Skeletal muscle atrophy, ... |
ORPHA:3242 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... |
ORPHA:2306 |
| Peho-Like Syndrome |
|
Pachygyria, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cere... |
OMIM:617507 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Flexion contracture of finger, Mandibular prognathia, Left ventricu... |
OMIM:619040 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal ... |
ORPHA:1780 |
| Desmosterolosis |
|
Arthrogryposis multiplex congenita, Short nose, Micrognathia, Rhizomelia, Patent ductus arteriosu... |
OMIM:602398 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Hypoplastic left heart, Ventricular sept... |
OMIM:142900 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Secundum atrial septal defect, Ventriculomegaly, Hypertrophic cardiomyopathy |
OMIM:619121 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophi... |
OMIM:615248 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Difficulty walking, Cerebellar cyst, Ventriculomegaly, Abnormal cerebral white matter... |
ORPHA:370980 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... |
OMIM:300712 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Cerebellar atrophy, Gait ataxia |
ORPHA:423296 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Hypoplasia of the corpus callosum, Cerebellar atrophy, Ataxia |
OMIM:616494 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia |
OMIM:614294 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:212840 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:615945 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Inability to walk, Dystonia, Ventriculomegaly, Cerebral atrophy, Ataxia, Cerebellar atrophy, Micr... |
OMIM:617804 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Pulmonic ... |
OMIM:201000 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:601494 |
| Achondroplasia |
|
Conductive hearing impairment, Rhizomelia, Recurrent otitis media, Megalencephaly, Upper airway o... |
OMIM:100800 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... |
OMIM:224050 |
| Ververi-Brady Syndrome |
|
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... |
OMIM:617982 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent respiratory infections, Chronic sinusitis |
OMIM:613502 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Ventriculomegaly, Posteriorly rotated ears, Small cerebral cortex, A... |
ORPHA:2185 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Aspergillosis |
|
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... |
ORPHA:1163 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... |
ORPHA:99104 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis |
OMIM:226990 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... |
ORPHA:477817 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microcephaly, Cerebral atrophy, Anteverted nares, Hydrocephalus |
OMIM:300884 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Secundum atrial septal defect, Pulmonic stenosis, Bifid uvula, Depresse... |
OMIM:615802 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... |
OMIM:613156 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease |
OMIM:614377 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Coarctation of aorta, Persistent left superior vena cava, Celia... |
OMIM:136140 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Myopathy, Cardiomyo... |
OMIM:617713 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... |
OMIM:601612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Brain atrophy, Cerebellar atrophy, ... |
OMIM:618226 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Pulmonary hypoplasia, Microglossia... |
OMIM:241800 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Coarctation of aorta, Abnormality of the larynx, Malformation of the hepatic du... |
OMIM:249000 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Truncal ataxia, Aplasia of the inferior half ... |
OMIM:610185 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Macrocephaly, Hydrocephalus,... |
OMIM:617967 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Exertional dyspnea, Restrictive cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Le... |
OMIM:608751 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Right ventr... |
ORPHA:275766 |
| Pettigrew Syndrome |
|
High-frequency hearing impairment, Gait ataxia, Ventriculomegaly, Mandibular prognathia, Abnormal... |
OMIM:304340 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Synaptic Congenital Myasthenic Syndromes |
|
