Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Pulmonary edema, My... |
OMIM:115197 |
Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Lymphedema, Patent d... |
OMIM:239850 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... |
ORPHA:2414 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... |
ORPHA:1131 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Short neck, Edema, Cerebellar atrophy, Ascites, Pericardial e... |
OMIM:608776 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, P... |
OMIM:249670 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... |
OMIM:211960 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Lower eyelid ed... |
ORPHA:363705 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Thickened nuchal skin fold, Pulmonic steno... |
OMIM:618164 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm, Fronta... |
ORPHA:261102 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Severe postnatal growth retardation, Camptodactyly, Knee flexion contr... |
ORPHA:435938 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Camptodactyly, Cystic hygroma, Cerebellar dysplasia, Arthro... |
OMIM:617822 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplast... |
OMIM:616276 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Atrioventricu... |
ORPHA:453499 |
Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia, Na... |
ORPHA:99811 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... |
ORPHA:199241 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... |
ORPHA:2345 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Delayed eruption of teeth, Spina bifida occu... |
OMIM:235510 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval |
ORPHA:231111 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion |
ORPHA:36412 |
Congenital Enterovirus Infection |
|
Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion... |
ORPHA:292 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Camptodactyly of finger, Ventricular sept... |
ORPHA:261330 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Tachycardia, Arrhythmia, Ventricular septal defect, Dilated cardiomyopathy,... |
ORPHA:26793 |
Atrial Standstill |
|
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy,... |
ORPHA:1344 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Neonatal death, Coarctation of aorta |
OMIM:601612 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosence... |
ORPHA:2162 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Nonimmune hydrops fetalis, Dilated fourth ventricle, Cerebellar hypoplasia, ... |
OMIM:212065 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial... |
OMIM:618775 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Hydrocephalus, Macroglossia, Camptodactyly of toe, Branchial fistula, C... |
ORPHA:261337 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Short neck, Ventricular septal defect, Lissencephaly, Patent ductus arteriosus, Um... |
OMIM:612938 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Aymé-Gripp Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Chiari type I malformation, Camptodactyly, Patent... |
ORPHA:1272 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Aortic aneury... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Aortic aneury... |
ORPHA:352665 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Edema, Lower limb hypertonia, Pericarditis, Ascites, Pericardial ef... |
OMIM:619487 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion |
ORPHA:92 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis |
OMIM:614432 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pleural effusion, Ascites, Pericardial effusion |
ORPHA:93552 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus, Broad n... |
OMIM:300963 |
Noonan Syndrome 8 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Short neck,... |
OMIM:615355 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Webbed ne... |
ORPHA:536532 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion |
OMIM:618183 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Alg9-Cdg |
|
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Thickened nuchal skin fold, Sho... |
ORPHA:79328 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... |
OMIM:619167 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Edema, Generalized edema, Ascites, Pericardial effusion |
ORPHA:90362 |
Alg3-Cdg |
|
Macroglossia, Coarctation of the descending aortic arch, Hypoplasia of the pons, Neural tube defe... |
ORPHA:79321 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Abnormal myocardium morphology, Ascites |
ORPHA:77259 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis |
OMIM:108050 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:617044 |
Poems Syndrome |
|
Pleural effusion, Ascites, Pericardial effusion, Edema |
ORPHA:2905 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Aortic valve stenosis, Atrial septal defect, Skeletal muscle hype... |
OMIM:139210 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Tachyc... |
ORPHA:99827 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Short neck, Patent ductus arteriosus, Hypoplastic left heart, Abnormal aortic morphology |
ORPHA:2001 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Limb muscle weakness, Spina bifida, Cer... |
OMIM:207950 |
Familial Aortic Dissection |
|
Peripheral arterial stenosis, Mucoid extracellular matrix accumulation, Ascending aortic dissecti... |
ORPHA:229 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Camptodactyly of finger, Short neck, Hydrops fetalis, Oligohydramnios, Endo... |
ORPHA:99776 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pleural effusion, Subconjunctival hemorrhage, Epistaxis, Pericardial effusion |
ORPHA:464329 |
Q Fever |
|
Endocarditis, Myocarditis, Pleural effusion, Abnormal heart valve morphology, Pericarditis, Peric... |
ORPHA:781 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta, Aplasia of the... |
ORPHA:2437 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Ectopia cordis, Cystic hygroma, Pate... |
OMIM:313850 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Atrial septal defect, Ventricular septal defect, Patent ductus arte... |
OMIM:619769 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Congenital diaphragmatic hernia |
ORPHA:63862 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... |
ORPHA:77261 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Kapur-Toriello Syndrome |
|
Short neck, Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arterio... |
ORPHA:2328 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short stature, Abnormality of dental eruption, Camptodactyly of finger, Scapular winging, Spina b... |
ORPHA:1327 |
Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Encephalocele |
ORPHA:861 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pulmonary edema, Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive h... |
ORPHA:73224 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Short stature, Hydranencephaly, Ventricular septal defect, Meningocele, Webbed ... |
ORPHA:1393 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Thoracic aortic aneurysm, Coronary artery atherosclerosis, Ascending aorti... |
OMIM:132900 |
Pagod Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Short stature, Situs inversus totalis, P... |
ORPHA:991 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Spina bifida, Lissencephaly |
ORPHA:99742 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Hennekam Syndrome |
|
Chylothorax, Camptodactyly of finger, Hydrops fetalis, Delayed eruption of teeth, Lymphedema, Asc... |
ORPHA:2136 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Aicardi-Goutieres Syndrome 7 |
|
Hypertrophic cardiomyopathy, Limb hypertonia, Edema, Cerebellar atrophy, Oligohydramnios, Pericar... |
OMIM:615846 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of medium-sized arteries, Arterial calcification, Calcification of the aorta... |
ORPHA:51608 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertr... |
OMIM:616564 |
Chédiak-Higashi Syndrome |
|
Pleural effusion, Pericardial effusion, Edema, Cerebellar atrophy |
ORPHA:167 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... |
ORPHA:2847 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Growth delay, Cervical spina bifida, Short neck, Postnatal growth retardation, Low posterior hair... |
OMIM:600122 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Coarctation of the descendin... |
ORPHA:1457 |
Craniofacial Microsomia |
|
Hydrocephalus, Hypoplasia of facial musculature, Coarctation of aorta, Tetralogy of Fallot, Ventr... |
OMIM:164210 |
Gitelman Syndrome |
|
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... |
ORPHA:358 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... |
ORPHA:2306 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short stature, Short neck, Coarctation of aorta, Spina bifida occu... |
ORPHA:508488 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Short umbilical cord, Short neck, Cerebellar hypoplasia, Hydranenc... |
OMIM:256520 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Per... |
ORPHA:91347 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion |
ORPHA:101096 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium, Chylothorax, Lymphedema, Ascites |
ORPHA:538 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,... |
ORPHA:63259 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Flexion contracture, Muscular dystrophy, Polymicrogyria, Abnorma... |
ORPHA:2671 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Dextrotransposition of the great arteri... |
OMIM:619702 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
Trisomy 18 |
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Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Holoprosencephaly, Camptoda... |
ORPHA:3380 |
Scimitar Syndrome |
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Tricuspid atresia, Double outlet right ventricle, Hypoplasia of the diaphragm, Anomalous pulmonar... |
ORPHA:185 |
Focal Dermal Hypoplasia |
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Diastasis recti, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Camptodacty... |
ORPHA:2092 |
Limb Body Wall Complex |
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Myelomeningocele, Diastasis recti, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic ... |
ORPHA:2369 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Patent... |
OMIM:619480 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Fountain Syndrome |
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Spina bifida, Spina bifida occulta, Short stature |
ORPHA:3219 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Atrial septal defect, Atrioventricular canal defect, Shoulder muscle... |
OMIM:274000 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Short stature, Neonatal short-trunk short stature, Camptodactyly of finger, Mesome... |
ORPHA:2839 |
Truncus Arteriosus |
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Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Anom... |
ORPHA:3384 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Bicuspid aortic valve, Atrioventricular canal defect, Short stature, Short neck, Coarctation of a... |
ORPHA:508498 |
Neu-Laxova Syndrome 2 |
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Short neck, Intrauterine growth retardation, Spina bifida, Lissencephaly |
OMIM:616038 |
Branchiooculofacial Syndrome |
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Short neck, Elbow flexion contracture, Branchial anomaly, Postnatal growth retardation, Facial pa... |
OMIM:113620 |
Jacobsen Syndrome |
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Aortic valve stenosis, Hypoplastic left heart, Pachygyria, Short stature, Short neck, Coarctation... |
ORPHA:2308 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
ORPHA:2255 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pleural effusion |
OMIM:181000 |
Waardenburg Syndrome Type 1 |
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Spina bifida, Meningocele |
ORPHA:894 |
Vater/Vacterl Association |
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Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... |
OMIM:192350 |
Fanconi Anemia |
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Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopa... |
ORPHA:84 |
Fibular Hemimelia |
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Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Meacham Syndrome |
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Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
22Q11.2 Deletion Syndrome |
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Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Shor... |
ORPHA:567 |
Heterotaxy, Visceral, 5, Autosomal |
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Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Congenitally Corrected Transposition Of The Great Arteries |
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Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Witteveen-Kolk Syndrome |
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Congenital diaphragmatic hernia, Short stature, Branchial fistula, Contracture of the distal inte... |
OMIM:613406 |
Laubry-Pezzi Syndrome |
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Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Dilatation of the... |
ORPHA:99094 |
Trisomy 20P |
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Camptodactyly of finger, Short neck, Umbilical hernia, Spina bifida, Low posterior hairline |
ORPHA:261318 |
Homozygous Familial Hypercholesterolemia |
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Premature arteriosclerosis, Peripheral arterial stenosis, Premature coronary artery atheroscleros... |
ORPHA:391665 |
Nail-Patella Syndrome |
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Short stature, Quadriceps aplasia, Biceps aplasia, Triceps aplasia, Spina bifida, Absence of pect... |
OMIM:161200 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Basal Cell Nevus Syndrome |
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Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus |
OMIM:109400 |
Rubinstein-Taybi Syndrome 1 |
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Vascular ring, Atrial septal defect, Hypoplastic left heart, Flexion contracture, Postnatal growt... |
OMIM:180849 |
Posterior Meningocele |
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Occipital meningocele, Hydrocephalus, Limitation of neck motion, Neural tube defect, Chiari malfo... |
ORPHA:268810 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hand muscle atroph... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Hand muscle atroph... |
ORPHA:363958 |
Vacterl With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Campomelic Dysplasia |
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Disproportionate short-limb short stature, Neonatal short-limb short stature, Hydrocephalus, Cont... |
OMIM:114290 |
Neurofibromatosis, Type I |
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Hydrocephalus, Aqueductal stenosis, Short stature, Rhabdomyosarcoma, Spina bifida, Renal artery s... |
OMIM:162200 |
Pmm2-Cdg |
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Multiple joint contractures, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lymphedema, Ana... |
ORPHA:79318 |
Aicardi Syndrome |
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Gray matter heterotopia, Polymicrogyria, Postnatal growth retardation, Pachygyria, Spina bifida |
OMIM:304050 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Infection-Related Hemolytic Uremic Syndrome |
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Abnormality of chemokine secretion, Increased circulating interleukin 6 concentration, Abnormalit... |
ORPHA:544482 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Hallermann-Streiff Syndrome |
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Proportionate short stature, Spina bifida, Natal tooth |
OMIM:234100 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Short stature, Neural tube defect, Growth delay, Abnormal hea... |
ORPHA:93924 |
Visceral Steatosis, Congenital |
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Myocardial steatosis, Neonatal death |
OMIM:228100 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Split Cord Malformation |
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Myelomeningocele, Hydrocephalus, Cervical spina bifida, Hydromyelia, Chiari malformation, Meningo... |
ORPHA:573278 |