Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... |
OMIM:618300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dy... |
OMIM:611884 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Situs inversus totalis, Dextrocard... |
OMIM:615482 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:615451 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 16 |
|
Pulmonary insufficiency, Situs inversus totalis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... |
OMIM:614017 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615504 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Hydrocephalus, Chronic sinusitis, Polysple... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Ciliary dyskinesia, Chronic sinusitis, Situs inversus totalis |
OMIM:612518 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Respiratory distress, Hydrocephalus, Hepatomegaly, Atrioventricular cana... |
OMIM:306955 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615500 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of respi... |
OMIM:613807 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... |
OMIM:614679 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... |
OMIM:613193 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 9 |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary ... |
OMIM:612444 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:608647 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... |
OMIM:618063 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... |
OMIM:612650 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... |
OMIM:608978 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:620032 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Cough, Situs inversus totalis, Wheezing, Chronic sinusitis, Recurrent pneumon... |
OMIM:613808 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Polysplenia, Asplenia |
OMIM:612776 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polypos... |
OMIM:617092 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Hypoplastic left heart |
OMIM:236110 |
Glycogen Storage Disease 0, Muscle |
|
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... |
OMIM:611556 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Total anomalous pulmonary venous return, Erythroid hypoplasia |
OMIM:618313 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the spleen, Abnormal lung lobation,... |
ORPHA:1666 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Ventriculomegaly, Agenesis of ... |
ORPHA:171703 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms |
OMIM:610852 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... |
OMIM:615294 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Communicating hydrocephalus, Situs inversus totalis, Chronic rhinitis, Recurrent... |
OMIM:244400 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... |
OMIM:208540 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Tachypnea, Dextrocardia, P... |
ORPHA:2257 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia, Restrictive ventila... |
OMIM:613686 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... |
OMIM:619608 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... |
OMIM:619123 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... |
ORPHA:70589 |
Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... |
OMIM:609008 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus tot... |
OMIM:249270 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia |
OMIM:615872 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Dias... |
ORPHA:1686 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Micrognathia, Depressed nasal tip, Camptodactyly... |
ORPHA:2863 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Ventricular septal defect, Renal cyst, Renal hypoplasia, Respiratory f... |
OMIM:228940 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Long nose, Tetralogy of Fallot, Wide nose, Patent ductus arter... |
ORPHA:2184 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Cleft palate, Tracheomalacia, Holoprosenceph... |
OMIM:202650 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Wide nasal bridge, Short thumb, Pulmonary artery at... |
ORPHA:401935 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism,... |
OMIM:314390 |
Seckel Syndrome 9 |
|
Asthma, Convex nasal ridge, Atrial septal defect, Congenital diaphragmatic hernia, Micrognathia, ... |
OMIM:616777 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:1727 |
Aminopterin/Methotrexate Embryofetopathy |
|
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... |
ORPHA:1908 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Hepatomegaly, Secundum atrial septal defect, Cerebral hemorr... |
OMIM:617397 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t... |
OMIM:611926 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, V... |
OMIM:617862 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Total anomalous pulmonary venous return, Atheroscler... |
ORPHA:494424 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Cor pulmonale, Micrognathia, Upper airway obstruction, Neonatal respi... |
OMIM:261800 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pulm... |
ORPHA:95430 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Tracheoma... |
OMIM:618280 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... |
OMIM:618021 |
Diabetic Embryopathy |
|
Hydrocephalus, Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal... |
ORPHA:1926 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Low-set ears, Po... |
OMIM:300864 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Respiratory insufficiency, Microcephaly, Cerebellar atrophy, Growth delay, Hear... |
OMIM:617899 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia, Prominent nose, Cleft palate |
OMIM:221950 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... |
OMIM:618699 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar verm... |
ORPHA:2703 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... |
OMIM:600987 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... |
OMIM:615993 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... |
OMIM:604213 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Muscle fiber atrophy, Microretrognathia, Right ventricu... |
ORPHA:324604 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia |
OMIM:242680 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, Bronchi... |
OMIM:612649 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy, Arterial intimal fibrosis, Cou... |
OMIM:178600 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... |
OMIM:613095 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... |
ORPHA:3426 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Situs inversus ... |
ORPHA:990 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Progressive microcephaly |
OMIM:613402 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Reduced respiratory ciliary beating freque... |
OMIM:617091 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic ki... |
ORPHA:1909 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Rec... |
OMIM:612541 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Anal atresia, Micro... |
OMIM:115470 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... |
OMIM:242670 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Bronchiectasis |
OMIM:618801 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... |
OMIM:619343 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Respiratory insufficiency, Patent ductus arteriosus, Secundum atrial s... |
OMIM:619909 |
Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Cleft palate, Dandy-Walker malformation, Abnormal liver lobula... |
ORPHA:99776 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Hypoplasia of the pons, Cere... |
OMIM:618276 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Microlissencephaly |
|
Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Pneumonia |
ORPHA:1083 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia,... |
OMIM:616726 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Respiratory insufficiency, Dextroc... |
ORPHA:1759 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ataxia, Macrocephaly, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy |
OMIM:613925 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Pulmonary artery hypoplasia, Anomalous o... |
ORPHA:2326 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect |
OMIM:619143 |
Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... |
OMIM:612562 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Respiratory insufficiency, Death in childhood, Ventricular septal defect, R... |
OMIM:253300 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect, Acute myeloid leukemia |
OMIM:223350 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... |
OMIM:220210 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Splenogonadal f... |
OMIM:156810 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Secundum atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Pulmo... |
OMIM:616866 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Abnormal epiglottis morphology, Aspirati... |
ORPHA:141152 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Bulbous nose, Hepatomegaly, Micrognathia, Diaphragmatic eventration, 11 pairs of ribs, Aplasia of... |
OMIM:620025 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Chops Syndrome |
|
Sleep apnea, Anomalous pulmonary venous return, Gastroesophageal reflux, High, narrow palate, Spl... |
OMIM:616368 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Bardet-Biedl Syndrome 17 |
|
Short fourth metatarsal, Hyposmia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Re... |
OMIM:615994 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Macrocephaly, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
High palate, Gastroesophageal reflux, Right ventricular hypertrophy, Patent ductus arteriosus, An... |
OMIM:613623 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615938 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Short stature, Microcephaly, Waddling gait, Cerebellar atrophy, Hearing impairment |
OMIM:619090 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis |
OMIM:616833 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Sensorineural hearing impairment, Microcephaly, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... |
ORPHA:1461 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Depressed nasal bridge, Hypospadias, Tetralo... |
OMIM:618316 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... |
OMIM:619534 |
Lissencephaly 4 |
|
Short stature, Cerebellar hypoplasia, Primary microcephaly, Growth delay, Colpocephaly, Agenesis ... |
OMIM:614019 |
Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
Spinocerebellar Ataxia Type 31 |
|
Hearing impairment, Gait ataxia, Cerebellar atrophy |
ORPHA:217012 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Chronic bronchitis, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Ant... |
OMIM:614069 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
Atrial Septal Defect, Sinus Venosus Type |
|
Airway obstruction, Anomalous pulmonary venous return, Stroke, Dyspnea, Exertional dyspnea, Pulmo... |
ORPHA:99105 |
Keutel Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Sinusitis, Airway obstructi... |
OMIM:245150 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Jaw swelling, Ventriculomegaly, Cerebellar atrophy, Gait ataxia |
OMIM:619323 |
Poland Syndrome |
|
Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis ... |
OMIM:173800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial sept... |
ORPHA:2255 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Masa Syndrome |
|
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Shuffling gait, Ventriculomegaly, Agene... |
OMIM:303350 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Macrocephaly, Ataxia, Microcephaly, Ventriculomegaly |
OMIM:618709 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Microcephaly, Gait ataxia, Cerebellar atrophy, Growth delay |
OMIM:614322 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Retrognathia, Micrognathia, Microcephaly, ... |
ORPHA:1832 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion |
OMIM:265450 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal... |
ORPHA:2311 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Pagod Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Multicystic kidney dysplasia, Situs inve... |
ORPHA:991 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... |
ORPHA:86812 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale, Macroglossia |
OMIM:616789 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Microcephaly, Cerebellar atrophy, Spastic gait, Chiari type I malformation |
OMIM:619742 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... |
OMIM:614876 |
Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:616145 |
Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Patent ... |
ORPHA:261120 |
Cleft Lip With Or Without Cleft Palate |
|
Hearing impairment, Chronic sinusitis, Recurrent otitis media |
ORPHA:1991 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perime... |
OMIM:617877 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Scissor gait, Unsteady gait, Spastic gait |
ORPHA:101010 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic gait, Difficulty walking, Cerebral atrophy, Cerebellar atrophy |
OMIM:611252 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy |
ORPHA:98766 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, High, narrow palate, Dandy-Walker malformation |
OMIM:616920 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:264480 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Monosomy 18Q |
|
Absence of the pulmonary valve, High palate, Hydrocephalus, Aortic valve stenosis, Secundum atria... |
ORPHA:1600 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Desmosterolosis |
|
Anomalous pulmonary venous return, Cleft palate, Splenomegaly, Intestinal malrotation, Depressed ... |
ORPHA:35107 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Microcephaly, Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly |
OMIM:618730 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Horseshoe kidney, Micro... |
OMIM:601186 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Developmental And Epileptic Encephalopathy 76 |
|
Microcephaly, Inability to walk, Cerebral atrophy, Cerebellar atrophy |
OMIM:618468 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Ventricular h... |
OMIM:619048 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Abnormal renal corticome... |
OMIM:616733 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Leukemia, Secundum atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619951 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... |
ORPHA:3092 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Primum atrial septal defect, Right ventricular hypertrophy, Crackl... |
ORPHA:1329 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Gastroesophageal reflux |
OMIM:616974 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Short stature, Cerebellar atrophy, Macrotia, Progressive microcephaly, Growth ... |
ORPHA:438178 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Apnea, Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Respiratory insufficien... |
OMIM:610127 |
Pancreatic And Cerebellar Agenesis |
|
Apnea, Secundum atrial septal defect, Pancreatic hypoplasia, Death in infancy, Anemia |
OMIM:609069 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Dysmetria, Short stat... |
ORPHA:284332 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Small hand, Left ventricular hypertrophy, Micrognathia, Hypospadias, C... |
OMIM:611209 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Cerebral atrophy, Respiratory insufficiency, Ventriculomegaly, Cerebellar atrophy,... |
OMIM:610333 |
Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Microcephaly, Cerebellar atrophy |
OMIM:614255 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly, Ataxia |
ORPHA:99966 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Microcephaly, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:611726 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia |
ORPHA:2111 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Common atrium, Epistaxis, Hepatic steatosis |
ORPHA:96168 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... |
OMIM:619040 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
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Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Hypoplastic left heart |
OMIM:617661 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615937 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... |
ORPHA:251071 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebral atrophy, Dysmetria, Short stature, Microcephaly, Central apnea, Gait ataxia, Cerebellar ... |
ORPHA:320385 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Pne... |
ORPHA:99104 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... |
OMIM:615248 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Ventriculomegaly, Cere... |
OMIM:618241 |
Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Stroke, Right ventricular dilatation, Left atrial enlargement |
OMIM:614022 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... |
ORPHA:217563 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, High palate, Hip contracture, Retrognathia, Left ventricular hypertrophy, Facial... |
ORPHA:169186 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Respiratory insufficiency, Multiple ... |
ORPHA:1166 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Abnormal coronary ... |
ORPHA:980 |
Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiado... |
ORPHA:363710 |
Verheij Syndrome |
|
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... |
ORPHA:101028 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Microcephaly, Aplasia/Hypoplasia of the external ear, Cerebellar hypo... |
ORPHA:168486 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Bifid uvula, Ventriculomegaly |
OMIM:619121 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... |
OMIM:192430 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
Desmosterolosis |
|
Joint contracture of the hand, Cleft palate, Micrognathia, Hypoplastic nasal bridge, Short nose, ... |
OMIM:602398 |
Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy, ... |
OMIM:617804 |
Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... |
ORPHA:1200 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Atrial septal defect, Cleft palate, Intracranial hemorrhage, Respiratory insuffici... |
ORPHA:163979 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy |
ORPHA:171622 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Pulmonary hyp... |
OMIM:313850 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myo... |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Exertional dyspne... |
OMIM:608751 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Hypospadias, Broad... |
ORPHA:3242 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Spina bifida occulta, ... |
OMIM:201000 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Cerebellar hypoplasia, Gait ataxia, Cerebellar atrophy, Growth delay, Abnormal la... |
ORPHA:488635 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia |
OMIM:226990 |
Fragile X Syndrome |
|
Sinusitis, Cerebral cortical atrophy, Protruding ear, Macrocephaly, Otitis media, Chronic otitis ... |
ORPHA:908 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot |
ORPHA:251076 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Situs inversus totalis, Anteverted nares, Abnormal pattern of respirat... |
ORPHA:475 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Macroglossia, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Respiratory distress, Apnea, Ataxia, Broad-based gait, Elevated... |
ORPHA:79097 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Short nos... |
OMIM:241800 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate |
OMIM:619995 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia |
OMIM:218010 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Increased CSF lactate, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Atrophy/Dege... |
OMIM:611523 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... |
ORPHA:70593 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
OMIM:617018 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
Synaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory distress, Hand muscle weakness, Sleep apnea, Right ventricular hypertrop... |
ORPHA:98915 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|