| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:363705 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... |
ORPHA:449285 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ... |
OMIM:239850 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Cryptorchidism |
OMIM:614684 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hypertension, Ischemic stroke, Coronary... |
ORPHA:280679 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Fetal Gaucher Disease |
|
Neonatal death, Stillbirth, Hydrops fetalis, Intracranial hemorrhage |
ORPHA:85212 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... |
OMIM:620070 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops feta... |
ORPHA:292 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae |
ORPHA:231111 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... |
ORPHA:99828 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... |
ORPHA:36412 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... |
OMIM:617397 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... |
OMIM:614424 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... |
ORPHA:90362 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia |
ORPHA:284227 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Increased blood pre... |
OMIM:619487 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema |
OMIM:617822 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gingival bleeding, Abnormal m... |
ORPHA:77259 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Polyhydramnios |
OMIM:241500 |
| Myofibrillar Myopathy 10 |
|
Percussion myotonia, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
| Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Cardio... |
OMIM:212065 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
| Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Unilateral cryptorchidism, Ventricu... |
OMIM:618280 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... |
ORPHA:324636 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Pleural effusion, A... |
OMIM:618183 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul... |
ORPHA:781 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
| Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation |
OMIM:309400 |
| Mirage Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Intrauterine gr... |
OMIM:617053 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke |
ORPHA:1163 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Tarp Syndrome |
|
Subdural hemorrhage, Neonatal death, Atrial septal defect, Intrauterine growth retardation, Tetra... |
OMIM:311900 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:606054 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios |
OMIM:615368 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Myotonic Dystrophy 1 |
|
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... |
ORPHA:1120 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... |
OMIM:602668 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:251000 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1272 |
| Alg9-Cdg |
|
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnorm... |
ORPHA:79328 |
| Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr... |
OMIM:615846 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Polyhydramnios, Edema, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Gingival bleeding, Pleural effusion, B... |
ORPHA:167 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Hydrops fetalis, Chylothorax, Arter... |
ORPHA:2136 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility |
OMIM:185070 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios |
OMIM:618480 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,... |
ORPHA:109 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct... |
OMIM:139210 |
| Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion... |
ORPHA:244242 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, P... |
ORPHA:538 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, ... |
ORPHA:79282 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Heart murmur,... |
ORPHA:163979 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... |
ORPHA:261 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intrauterine growth retardation, Prolonged prothrombin time, Intraventricular hem... |
OMIM:619055 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Dilated c... |
ORPHA:98855 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Myotonia |
ORPHA:682 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... |
OMIM:232300 |
| Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Atriovent... |
ORPHA:98863 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
| Gitelman Syndrome |
|
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-normal blood pressure, Va... |
ORPHA:358 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Chylothorax, Cerebral hemorrhage |
OMIM:620278 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Triploidy |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, H... |
ORPHA:3376 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohydram... |
OMIM:608836 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morphology |
ORPHA:79284 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, First degree atrioventricular block |
ORPHA:589821 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios |
OMIM:613603 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,... |
ORPHA:90062 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
| Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage |
ORPHA:2356 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia |
ORPHA:324442 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Abnormal heart valve morph... |
ORPHA:99776 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida oc... |
ORPHA:2311 |
| Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:600901 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Testicular adrenal rest tumor |
ORPHA:90795 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Cryptorchidism, Prolonged G2 phase of cell cycle, Intrauterine growth ... |
OMIM:227645 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Prolonged G2 phase of cell cycle, Abnorm... |
OMIM:227646 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:227650 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... |
OMIM:306955 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydro... |
OMIM:130720 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
| Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... |
ORPHA:2177 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... |
ORPHA:90324 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Cryptorchidi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Cryptorchidi... |
ORPHA:363958 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncom... |
ORPHA:666 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
| Dpagt1-Cdg |
|
Intracranial hemorrhage, Anasarca, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningocele, Pulmonary... |
ORPHA:991 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... |
ORPHA:63259 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Cryptorchidism, Arrhythmia |
ORPHA:2874 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Testicular neoplasm |
ORPHA:199244 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Myotonia, Shortened PR interval, Impaired myocardial contractility, Second... |
ORPHA:79102 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus... |
OMIM:256520 |
| 22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Atrial septal defect, Spina bifida, Cryptorchidi... |
ORPHA:567 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect, Cryptorchidism |
ORPHA:2789 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Hydrocele testis, Umbilical hernia, Oligohydramnios |
OMIM:613776 |
| Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Atrial s... |
ORPHA:3380 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Meningioma |
|
Hydrocephalus, Syncope, Cerebral hemorrhage |
ORPHA:2495 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele |
ORPHA:1827 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine gr... |
ORPHA:3412 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Oligohydramnios, Tetralogy... |
ORPHA:84 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Unilateral cryptorchidism, Polyhydramnios, Intracranial hemorrhage, Intrauteri... |
OMIM:613406 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| Focal Dermal Hypoplasia |
|
Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Ab... |
ORPHA:2092 |
| Trisomy 20P |
|
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism |
ORPHA:261318 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni... |
OMIM:616546 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Spina bifida, Edema of the dorsum of hand... |
OMIM:274000 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
| Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
| Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Polyhydramnios, Spina bifida |
ORPHA:2671 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension |
OMIM:234100 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Marfan Syndrome |
|
Mitral valve calcification, Congestive heart failure, Descending aortic dissection, Meningocele, ... |
ORPHA:558 |
| Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... |
ORPHA:79318 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Bilateral cryptorchidism, Cryptorchidism... |
OMIM:180849 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Myotonia |
OMIM:601559 |
| Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
| Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Coarctation of aorta, Hypoplastic left h... |
ORPHA:2308 |
| Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele, Hydrops fetalis, Cryptorchidism |
ORPHA:2879 |
| Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
| Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Coarctation of aorta |
OMIM:277170 |
| Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Arrhythmia, Myotonia |
ORPHA:800 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Coarctation of aorta |
OMIM:619480 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
| Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
| Campomelic Dysplasia |
|
Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism |
OMIM:114290 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... |
ORPHA:573278 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia, ... |
OMIM:304120 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Arima Syndrome |
|
Occipital meningocele, Hypertension |
OMIM:243910 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Cryptorchidism |
OMIM:276820 |
