| 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 |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
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 |
|
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... |
OMIM:618734 |
| Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... |
OMIM:619897 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
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 |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... |
OMIM:160800 |
| Familial Cervical Artery Dissection |
|
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... |
ORPHA:36382 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Tran... |
OMIM:115197 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Ce... |
ORPHA:284388 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... |
ORPHA:684 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... |
OMIM:202400 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... |
ORPHA:326 |
| Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603284 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Arrhythmia, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
| Moderate Hemophilia A |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Joint swellin... |
ORPHA:169805 |
| Rippling Muscle Disease 1 |
|
Muscle mounding, Percussion-induced rapid rolling muscle contractions |
OMIM:600332 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... |
OMIM:273800 |
| Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... |
ORPHA:231160 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... |
ORPHA:2414 |
| Dural Sinus Malformation |
|
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Hydrocephalus, Cerebel... |
ORPHA:97339 |
| Severe Hemophilia A |
|
Epidural hemorrhage, Bruising susceptibility, Subdural hemorrhage, Persistent bleeding after trau... |
ORPHA:169802 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Hemophilia A |
|
Joint swelling, Intracranial hemorrhage, Joint hemorrhage, Intraventricular hemorrhage, Spontaneo... |
ORPHA:98878 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
OMIM:613225 |
| Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Post-partum hemorrhage, I... |
ORPHA:325 |
| Snakebite Envenomation |
|
Stroke, Gingival bleeding, Hypotension, Edema, Angioedema, Cardiogenic shock, Intracranial hemorr... |
ORPHA:449285 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibility, Cerebral ... |
ORPHA:331 |
| Cantu Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... |
OMIM:239850 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon |
OMIM:255700 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... |
ORPHA:136 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
| Familial Afibrinogenemia |
|
Gingival bleeding, Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Epistaxis |
ORPHA:98880 |
| Factor Vii Deficiency |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... |
OMIM:227500 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... |
ORPHA:3002 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... |
ORPHA:853 |
| Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... |
ORPHA:327 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding after trauma... |
ORPHA:465 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... |
OMIM:261740 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis, Hypertension |
ORPHA:820 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... |
ORPHA:35909 |
| Fetal Gaucher Disease |
|
Stillbirth, Intracranial hemorrhage, Hydrops fetalis, Neonatal death |
ORPHA:85212 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites |
OMIM:608776 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Azoospermia, Coronary ar... |
ORPHA:280679 |
| Sneddon Syndrome |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Bicuspid aortic valve |
OMIM:182410 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia |
OMIM:168300 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Factor X Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Intracranial hemorrhage, Joint hemorrhage, Prolong... |
OMIM:227600 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... |
ORPHA:328 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
ORPHA:79 |
| Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... |
ORPHA:99147 |
| Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... |
ORPHA:98879 |
| Fibronectin Glomerulopathy |
|
Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
| Primary Angiitis Of The Central Nervous System |
|
Stroke, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic attack |
ORPHA:140989 |
| Familial Multiple Nevi Flammei |
|
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... |
ORPHA:624 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... |
ORPHA:555874 |
| Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... |
ORPHA:53719 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Aortic aneurysm, Polyhydramnios, Pericardial effusion, Multiple muscular ve... |
OMIM:620070 |
| Congenital Enterovirus Infection |
|
Myocarditis, Hypotension, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pericar... |
ORPHA:292 |
| Methanol Poisoning |
|
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Permanent ... |
ORPHA:31825 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion, Petechiae |
ORPHA:231111 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Ventricular septal defect, Atrial septal defect, Pleural lymphangiecta... |
OMIM:235510 |
| Dengue Fever |
|
Gingival bleeding, Bruising susceptibility, Hypotension, Cerebral hemorrhage, Gastrointestinal he... |
ORPHA:99828 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, Transient i... |
ORPHA:91387 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Hydrocephalus, Left ventricular hypertrophy, Syncope... |
ORPHA:90065 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Pericardial effusion, Pleur... |
ORPHA:36412 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... |
OMIM:605714 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... |
ORPHA:199241 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Persiste... |
OMIM:618775 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Right aortic arch, Cerebral hemorrhage, Abnormal left ventricle morphology, Hypertension, Prematu... |
OMIM:300845 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... |
ORPHA:464321 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecchymosis, S... |
ORPHA:464329 |
| 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, Hydrocephalus, Meningocele, Ventricular septal defect, Intracranial hemorrhage, Hy... |
OMIM:614424 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Abnormal lymphatic vessel morphology, Pericardial effusion, Pleural effusion, Intestinal l... |
ORPHA:90362 |
| Myotonia Fluctuans |
|
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... |
ORPHA:99734 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycar... |
OMIM:617397 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites |
ORPHA:284227 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... |
OMIM:619313 |
| Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... |
OMIM:177850 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Tachycardia, Ventricular septal defect, Atrial septal defect, Arrhythmia... |
ORPHA:26793 |
| Aicardi-Goutieres Syndrome 9 |
|
Edema, Left ventricular hypertrophy, Hypertension, Intrauterine growth retardation, Portal hypert... |
OMIM:619487 |
| Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... |
ORPHA:774 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... |
ORPHA:494424 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Polyhydramnios, Intracranial hemorrhage |
OMIM:241500 |
| Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Pericardial effusion, Edema, Hydrocephalus |
OMIM:617822 |
| Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Myotonia, Handgrip myotonia |
OMIM:608390 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage |
ORPHA:49566 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Gingival bleeding, Bruising susceptibility, Abnormal myocardium ... |
ORPHA:77259 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Percussion myotonia, Increased QRS voltage |
OMIM:619040 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Lymphedema, Bruising susceptibility |
ORPHA:3226 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Polyhydramnios, Spina bifida occulta, Subdural hemorrhage |
OMIM:618291 |
| Isovaleric Acidemia |
|
Dehydration, Cerebellar hemorrhage |
OMIM:243500 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida |
ORPHA:2476 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Acute Interstitial Pneumonia |
|
Pleural effusion, Peripheral edema, Hypertension, Pericardial effusion |
ORPHA:79126 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Pericardial effusion |
OMIM:620089 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... |
OMIM:277450 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... |
ORPHA:99827 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time, Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Pericardial effusio... |
OMIM:212065 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:94080 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... |
OMIM:610655 |
| Erythrocytosis, Familial, 2 |
|
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Q Fever |
|
Myocarditis, Vasculitis, Endocarditis, Abnormal heart valve morphology, Purpura, Abnormal left ve... |
ORPHA:781 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:2905 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Autoerythrocyte Sensitization Syndrome |
|
Bruising susceptibility, Edema, Intracranial hemorrhage, Joint hemorrhage, Ecchymosis, Gastrointe... |
ORPHA:324636 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, Hydrocephalus... |
ORPHA:1908 |
| Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation |
OMIM:309400 |
| Aspergillosis |
|
Stroke, Intracranial hemorrhage, Pleural effusion |
ORPHA:1163 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:403 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tetralogy of Fallot... |
OMIM:618280 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Anasarca, Polyhydramnios, Pericardial effusion, Pleural effusion, Ascites |
OMIM:618183 |
| Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Intrauterine growth retardation, ... |
OMIM:311900 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:404 |
| Propionic Acidemia |
|
Cardiomyopathy, Dehydration, Cerebellar hemorrhage |
OMIM:606054 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... |
ORPHA:90307 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Bruising susceptibility, Aortic root aneurysm, Umbilical hernia, Varicose veins, Carotid artery s... |
ORPHA:536532 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Cerebral hemorrhage |
OMIM:133100 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa telangiect... |
OMIM:187300 |
| Myotonic Dystrophy 1 |
|
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Mirage Syndrome |
|
Hydrocephalus, Intracranial hemorrhage, Intrauterine growth retardation, Petechiae, Patent ductus... |
OMIM:617053 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida |
OMIM:211960 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus |
ORPHA:447788 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Cerebral edema, Sudden cardiac death, Congestive heart failure, Dilat... |
ORPHA:99901 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Palpitations, Myotonia, Premature ventricular contraction, Tachycardia, Right ... |
OMIM:602668 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Spina bifida, Atrial septal defect, Atrioventricular canal defect, Tricuspi... |
ORPHA:1120 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... |
OMIM:600376 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Dehydration, Cerebellar hemorrhage |
OMIM:251000 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
| Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Abnormal renal artery morpholog... |
ORPHA:79328 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Edema, Hypertension, Intrauterine growth retardation, Hematemesis, Olig... |
OMIM:615846 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:231625 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart valve morphology, Mitral valve c... |
ORPHA:77261 |
| Generalized Arterial Calcification Of Infancy |
|
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... |
ORPHA:51608 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1272 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Internal hemorr... |
ORPHA:340 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Edema, Bruising susceptibility, Pericardial effusion, Abnormal bleeding, Pleur... |
ORPHA:167 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... |
OMIM:611134 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
| Wiskott-Aldrich Syndrome |
|
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... |
ORPHA:906 |
| Stormorken Syndrome |
|
Subarachnoid hemorrhage, Bruising susceptibility, Abnormal bleeding, Epistaxis, Stroke-like episode |
OMIM:185070 |
| Hennekam Syndrome |
|
Hydrops fetalis, Arteriovenous malformation, Pericardial effusion, Lymphedema, Pulmonary lymphang... |
ORPHA:2136 |
| Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... |
ORPHA:90068 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... |
ORPHA:363618 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage, Telangiectasia, Angina pect... |
ORPHA:109 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios |
OMIM:618480 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhag... |
ORPHA:244242 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Lym... |
ORPHA:538 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrocephalus, Hydrops... |
ORPHA:79282 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Intrauterine growth retardation, Neonata... |
OMIM:619055 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... |
ORPHA:261 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... |
ORPHA:98855 |
| Myhre Syndrome |
|
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Hypertension, Intrauterine... |
OMIM:139210 |
| Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Congestive heart failure, Myotonia |
ORPHA:682 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage, Interrup... |
ORPHA:163979 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... |
OMIM:232300 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:276621 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Hypertrophic... |
ORPHA:98863 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Joint swelling, Angioedema, Intracranial hemorrhage, Pulmonary embolism, Myoc... |
ORPHA:3260 |
| Menkes Disease |
|
Venous insufficiency, Umbilical hernia, Intracranial hemorrhage, Abnormal carotid artery morpholo... |
ORPHA:565 |
| Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... |
ORPHA:358 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus |
OMIM:207950 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... |
ORPHA:73224 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Dilated cardiomyopathy, Cardiome... |
OMIM:608836 |
| Classic Homocystinuria |
|
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... |
ORPHA:394 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morphology |
ORPHA:79284 |
| Pheochromocytoma |
|
Cerebral hemorrhage, Renal artery stenosis, Congestive heart failure, Positive regitine blocking ... |
OMIM:171300 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, First degree atrioventricular block |
ORPHA:589821 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Dextrocardia, Bruising susceptibility, Subdural hemorrhage, A... |
ORPHA:536545 |
| Triploidy |
|
Hydrocephalus, Meningocele, Polyhydramnios, Holoprosencephaly, Intrauterine growth retardation, A... |
ORPHA:3376 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Palpitations, Hypertension, Supraventricular arrhythmia, Congestive heart failure, P... |
ORPHA:91347 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Acute Liver Failure |
|
Prolonged prothrombin time, Hypotension, Bruising susceptibility, Intracranial hemorrhage, Cerebr... |
ORPHA:90062 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
| Arachnoid Cyst |
|
Subarachnoid hemorrhage, Holoprosencephaly, Encephalocele, Hydrocephalus |
ORPHA:2356 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions |
ORPHA:324442 |
| Hutchinson-Gilford Progeria Syndrome |
|
Stroke, Intracranial hemorrhage, Abnormal mitral valve morphology, Ventricular hypertrophy, Trans... |
ORPHA:740 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly |
OMIM:603194 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus |
OMIM:613603 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:29072 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Atrial septal defect, Spina bifida, Hydrops fetalis, Pol... |
ORPHA:99776 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
| Loeys-Dietz Syndrome 3 |
|
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, M... |
OMIM:613795 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Intrauterine gro... |
ORPHA:2177 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Anomalous p... |
ORPHA:2311 |
| Fanconi Anemia, Complementation Group D2 |
|
Bruising susceptibility, Hydrocephalus, Abnormal heart morphology, Patent ductus arteriosus, Prol... |
OMIM:227646 |
| Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Bruising susceptibility, Abnormal heart morphology |
OMIM:600901 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Bruising susceptibility, Ventr... |
OMIM:227645 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic arch, Left superior vena ca... |
OMIM:306955 |
| Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
| Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Cockayne Syndrome Type 3 |
|
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premat... |
ORPHA:90324 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Bruising susceptibility, Abnormal heart morphology |
OMIM:227650 |
| Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
| Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pulmonic stenosis, Hydrocephalus, Aortic aneurysm, Spina bifida, Cardiomyopathy, Ventricular sept... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Pulmonic stenosis, Hydrocephalus, Aortic aneurysm, Spina bifida, Cardiomyopathy, Ventricular sept... |
ORPHA:363958 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Aortic aneurysm, Umbilical hernia, Meningocele, Ventricular septal defect, Bicuspi... |
OMIM:130720 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion |
OMIM:181000 |
| Osteogenesis Imperfecta |
|
Aortic root aneurysm, Bruising susceptibility, Aortic aneurysm, Cerebral hemorrhage, Hydrocephalu... |
ORPHA:666 |
| Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Ventricular septal defect, Atrial ... |
OMIM:619472 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
| Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Anasarca, Stroke-like episode |
ORPHA:86309 |
| Superficial Siderosis |
|
Subarachnoid hemorrhage, Arteriovenous malformation, Persistent bleeding after trauma, Internal h... |
ORPHA:247245 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Intrauterine growth retardation, Edema, Spina bifida |
OMIM:616038 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Ventricular septal defect, Intraute... |
ORPHA:1393 |
| Iniencephaly |
|
Encephalocele, Spinal dysraphism, Spina bifida, Myelomeningocele, Hydrocephalus, Polyhydramnios, ... |
ORPHA:63259 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Meningocele, Hydrocephalus, Hydromyelia, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
| Thyrotoxic Periodic Paralysis |
|
Palpitations, Impaired myocardial contractility, Second degree atrioventricular block, Myotonia, ... |
ORPHA:79102 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
| Pagod Syndrome |
|
Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... |
ORPHA:991 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... |
ORPHA:567 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Spina bifida, Hydranencephaly, Ventricular septal defect, Polyhydramnios, I... |
OMIM:256520 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Lymphedema, Spina bifida |
ORPHA:2874 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydranencephaly, Hydrocephalus |
ORPHA:2839 |
| Meningioma |
|
Syncope, Cerebral hemorrhage, Hydrocephalus |
ORPHA:2495 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus |
ORPHA:1136 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia, Ventricular septal defect |
ORPHA:2789 |
| Riddle Syndrome |
|
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia |
ORPHA:420741 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Hydrocephalus, Polyhydramnios, Aqueductal stenosis, Intrauterine growth retardation... |
ORPHA:3412 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Spina bifida, Oligohydramnios, Hydrocephalus |
OMIM:613776 |
| Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Atrial septal defect, Holoprosencephaly, Intrauterine gr... |
ORPHA:3380 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Spina bifida, Myelomeningocele, Hydrocephalus, Ventricular s... |
ORPHA:2369 |
| Focal Dermal Hypoplasia |
|
Spina bifida, Ventricular septal defect, Umbilical hernia, Patent ductus arteriosus, Telangiectas... |
ORPHA:2092 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
| Fanconi Anemia |
|
Tetralogy of Fallot, Arteriovenous malformation, Hydrocephalus, Umbilical hernia, Spina bifida, A... |
ORPHA:84 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Hydrocephalus, Ischemic stroke, Retinal arteriolar tortuosity, Dilation of V... |
OMIM:175780 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Hydrops fetalis, Hydrocephalus, Polyhydramnios, Anencephaly, Occipital meni... |
OMIM:616546 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Coarctation of aorta, Spina bifida, Tetralogy of Fallot, Ventricular septal defect, Atrial septal... |
OMIM:274000 |
| Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension |
ORPHA:139417 |
| Neu-Laxova Syndrome |
|
Polyhydramnios, Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Coarctation of aorta, Spina bifida, Tetralogy of Fallot, Ventricular septal defect, Atrioventricu... |
ORPHA:508498 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Descending aortic dissection, Meningocele, Arterial dissection, Mitr... |
ORPHA:558 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Hallermann-Streiff Syndrome |
|
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Spina bifida |
OMIM:234100 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Myotonia |
OMIM:601559 |
| Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
| Pmm2-Cdg |
|
Anasarca, Intracranial hemorrhage, Angina pectoris, Pericardial effusion, Lymphedema, Hypertrophi... |
ORPHA:79318 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
| Rubinstein-Taybi Syndrome 1 |
|
Coarctation of aorta, Hypoplastic left heart, Spina bifida, Ventricular septal defect, Polyhydram... |
OMIM:180849 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus |
OMIM:109400 |
| Jacobsen Syndrome |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauteri... |
ORPHA:2308 |
| Lathosterolosis |
|
Meningocele, Intrauterine growth retardation |
ORPHA:46059 |
| Schwartz-Jampel Syndrome |
|
Arrhythmia, Pulmonary arterial hypertension, Myotonia |
ORPHA:800 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Phocomelia, Schinzel Type |
|
Meningocele, Intrauterine growth retardation, Hydrops fetalis |
ORPHA:2879 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Vater/Vacterl Association |
|
Tetralogy of Fallot, Spina bifida, Ventricular septal defect, Patent urachus, Occipital encephalo... |
OMIM:192350 |
| Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis, Hypertension, Renal artery stenosis |
OMIM:162200 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Spina bifida, Hydrocephalus, Polyhydramnios, Abnormal heart morphology |
OMIM:114290 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Meningocele, Hydrocephalus, Hydromyelia, Lipomyelomening... |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Dilatation of the sinus of Valsalva, Spina bifida, Hydrocephalus, Umbilical hernia, Atrial septal... |
OMIM:304120 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Exstrophy-Epispadias Complex |
|
Spina bifida, Abnormal heart morphology, Hydrocephalus |
ORPHA:322 |
