Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Nathalie Syndrome |
|
Arrhythmia, Cataract, Sensorineural hearing impairment |
ORPHA:2663 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Thrombocytopenia, Patent du... |
OMIM:617021 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... |
OMIM:612422 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct... |
OMIM:615779 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia, Ectopia lentis |
OMIM:238700 |
Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection, Ectopia lentis |
OMIM:604308 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract, Hearing impairment |
OMIM:255990 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract, Premature coronary artery ather... |
OMIM:618463 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Cataract, Ataxia, Gait disturbance |
ORPHA:2815 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... |
ORPHA:2169 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Mitral regurgitation, I... |
OMIM:612561 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... |
OMIM:239500 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Temtamy Syndrome |
|
Aortic regurgitation, Ectopia lentis, Lens luxation, Lop ear, Self-mutilation, Low-set ears, Iris... |
OMIM:218340 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aortic aneurysm |
ORPHA:261102 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Devel... |
ORPHA:124 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral regurgitation, Increased m... |
ORPHA:261250 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Cln3 Disease |
|
Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, T-wav... |
ORPHA:228346 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... |
ORPHA:3287 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, EEG abnormality, Bradycardia, Hy... |
OMIM:618815 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Hypertension, Arrhy... |
ORPHA:225 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Cupped ea... |
OMIM:617052 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A... |
ORPHA:99094 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy |
OMIM:605899 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Atresia of the ex... |
OMIM:612562 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... |
OMIM:619825 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aortic morpholog... |
ORPHA:3222 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... |
OMIM:261600 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Temtamy Syndrome |
|
Iris coloboma, Low-set ears, Aortic aneurysm |
ORPHA:1777 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Abnormal aortic ... |
ORPHA:449400 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy... |
OMIM:606069 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Bradycardia |
OMIM:609924 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndr... |
OMIM:127550 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia |
ORPHA:171876 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Ag... |
ORPHA:3077 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy,... |
OMIM:618805 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract, Retinal telangiectasia |
OMIM:620157 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Inability to walk, Sensorin... |
OMIM:615350 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Faci... |
OMIM:620141 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation, Cardiomyopathy, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia, Dysphagi... |
OMIM:609286 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ... |
ORPHA:3342 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia, Iri... |
ORPHA:411515 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... |
ORPHA:99050 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong... |
ORPHA:542306 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... |
ORPHA:52368 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Stro... |
ORPHA:173 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iri... |
ORPHA:231183 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen... |
OMIM:617302 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Lens s... |
OMIM:609008 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, C... |
ORPHA:1764 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Infantile Refsum Disease |
|
Cataract, Ataxia, Facial palsy, Sensorineural hearing impairment, Elevated circulating phytanic a... |
ORPHA:772 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism... |
OMIM:618718 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Optic atrophy, Cereb... |
ORPHA:397 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... |
OMIM:212138 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Alport Syndrome |
|
Posterior subcapsular cataract, Sensorineural hearing impairment, Abnormal corneal endothelium mo... |
ORPHA:63 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm, Mitral valve prolapse, Ectopia lentis |
ORPHA:115 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
OMIM:619260 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti... |
ORPHA:228360 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... |
OMIM:613845 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Hypertension, Hypokalemia, Hypocalcemia, Renal artery stenosis |
OMIM:617913 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,... |
ORPHA:168491 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Sensorineural hearing impairment, O... |
OMIM:222300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Fragile X Syndrome |
|
Self-injurious behavior, Ascending tubular aorta aneurysm, Attention deficit hyperactivity disord... |
ORPHA:908 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal pinna morphology, Congestive heart failure, Arterial rupture, Impaired tandem gait, Micr... |
ORPHA:1900 |
Alg8-Cdg |
|
Hyponatremia, Cataract |
ORPHA:79325 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect |
OMIM:608688 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto... |
OMIM:616959 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal defect, Double o... |
ORPHA:1667 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Ataxia, Optic atrophy, Hypertension, Conjunctiviti... |
ORPHA:90321 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... |
OMIM:620070 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial dipleg... |
OMIM:160900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... |
OMIM:618775 |
Refsum Disease, Classic |
|
Cataract, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Elevated circulatin... |
OMIM:266500 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... |
OMIM:612674 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Astigmatism, Hyperkalemia |
ORPHA:97362 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment |
OMIM:616277 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Decreased plasma free carnitine, Bradycardia, Congestive heart failure |
OMIM:619048 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Ventricular arrhythmia, Abnormal left ventricular function, Hype... |
ORPHA:36913 |
Loeys-Dietz Syndrome 4 |
|
Flat cornea, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Dysphagia, Hypertension, Bradyca... |
ORPHA:3299 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Patent duct... |
ORPHA:96121 |
Timothy Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus, Ventricular tachycardia, Atrioventricular block,... |
OMIM:601005 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Ataxia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentrat... |
OMIM:614879 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... |
OMIM:616299 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo... |
ORPHA:3452 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Compulsive behaviors, Juvenile cataract, Abnormal repetitive mannerisms, Ir... |
OMIM:619475 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... |
ORPHA:247353 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Muscle-Eye-Brain Disease |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormality, Gai... |
ORPHA:588 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hyperkalemia, Hypovo... |
ORPHA:95409 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Cataract, Retinal telangiectasia |
OMIM:620155 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension |
ORPHA:79473 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe... |
OMIM:270100 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Transketolase Deficiency |
|
Cataract, Abnormal coronary artery course, Elevated circulating ribitol concentration, Patent duc... |
ORPHA:488618 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Antecubital pterygium, Conotruncal defect, Microtia, Hypoplasia of the thymus, Third ... |
ORPHA:40366 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Elevated circulating creatine kinase concentration, Thoracic aortic an... |
ORPHA:365 |
Mirage Syndrome |
|
Hyponatremia, Patent ductus arteriosus, Hyperkalemia, Intracranial hemorrhage |
OMIM:617053 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Bradycardia, Lethargy, Abnormal circulating thyroglobulin level... |
ORPHA:95716 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension |
ORPHA:361 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Developmental cataract... |
ORPHA:93400 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Patent ductus arteriosus, Dilat... |
OMIM:610505 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia |
OMIM:614407 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Precocious atherosclerosis, Hypovolem... |
ORPHA:275761 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Low-set ears, Dy... |
ORPHA:93399 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Abnormal eating be... |
ORPHA:98794 |
Shigellosis |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, C... |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension |
ORPHA:199299 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... |
ORPHA:909 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Aortic root aneurysm, ... |
ORPHA:449291 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Ataxia, Myocardial infarction, Abnormal circulating... |
OMIM:213700 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Bradycardia, Low-set ears, Neonatal death |
OMIM:610015 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... |
OMIM:610168 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Antecubital pterygium, Aortic aneurysm, Popliteal pterygium, Gait disturbance,... |
ORPHA:2990 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Abnormal cardiac ventricle morphology, Hea... |
ORPHA:284979 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Cataract, Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait at... |
OMIM:618321 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Marfan Syndrome |
|
Flat cornea, Ectopia lentis, Lens luxation, Congestive heart failure, Descending aortic dissectio... |
ORPHA:558 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Se... |
ORPHA:760 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Patent ductus arterio... |
OMIM:220120 |
Alg12-Cdg |
|
Hyponatremia, Patent ductus arteriosus, Muscular ventricular septal defect, Biventricular hypertr... |
ORPHA:79324 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo... |
ORPHA:980 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure,... |
OMIM:617253 |
Mend Syndrome |
|
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-deh... |
ORPHA:401973 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, A... |
OMIM:256800 |
Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic mor... |
ORPHA:2162 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Mixed h... |
ORPHA:309288 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:90791 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Sensorineural hearing impairment, Pseudobulbar paralysis, Dysphagia, Loss of ambulation |
OMIM:607371 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Cataract, Hypocalcemia |
ORPHA:2238 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal... |
ORPHA:221098 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, EEG with generalized... |
ORPHA:163681 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Aortic root aneurysm, Tip-toe gait, Sinus tachycardia |
ORPHA:171881 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
Cockayne Syndrome A |
|
Cataract, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve... |
OMIM:216400 |
Rin2 Syndrome |
|
Aortic aneurysm |
ORPHA:217335 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Sensorineural hearing impairment, Abnormal earlobe morphology, Tics, Compul... |
ORPHA:261330 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Phace Syndrome |
|
Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Lethargy, Thrombocytopenia |
OMIM:617397 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Congestive heart failure, Sensorineural hearing impairment, Patent ductus arter... |
OMIM:601808 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia |
OMIM:614498 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:310600 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Tip-toe ... |
ORPHA:565624 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Sheehan Syndrome |
|
Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia |
OMIM:126320 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Ascending tubular aorta aneurysm, Compulsive behaviors, Low-s... |
OMIM:309520 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane... |
OMIM:203500 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Sensorineural hearing impairment, Subdural hemorrhage, Arterial rupture, Aor... |
ORPHA:536545 |
Epidermal Nevus Syndrome |
|
Astigmatism, Aortic aneurysm |
ORPHA:35125 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Intraventricular hemorrhage, Optic atrophy, Protruding ear, Developmental catar... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Intraventricular hemorrhage, Optic atrophy, Protruding ear, Developmental catar... |
ORPHA:363958 |
Blau Syndrome |
|
Pericarditis, Cataract, Facial palsy, Keratitis, Splenomegaly, Large vessel vasculitis, Aortic an... |
ORPHA:90340 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Portal hypertension, Short-se... |
OMIM:609136 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary ... |
OMIM:208050 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Hypertension, Agitation, Low-set ears, Compulsive... |
OMIM:612469 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Sensorineural hearing impairment, Bidirection... |
OMIM:619351 |
Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Decreased mean corpuscul... |
ORPHA:160 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Developmental glaucoma, Calcification o... |
ORPHA:51 |
Marfan Syndrome |
|
Aortic regurgitation, Cataract, Tricuspid regurgitation, Bicuspid aortic valve, Ectopia lentis, C... |
OMIM:154700 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusion, Increased circulating ferrit... |
ORPHA:167 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Protruding ear, Mitral regurgitation, Aortic root aneurysm, Attention defici... |
OMIM:301039 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Agel Amyloidosis |
|
Cataract, Ataxia, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal spleen morph... |
ORPHA:85448 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Dilatation of the ventricular ca... |
ORPHA:90348 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to wal... |
OMIM:608885 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... |
ORPHA:99826 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Abnorma... |
ORPHA:284984 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b... |
ORPHA:324 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Macrotia, A... |
ORPHA:109 |
Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Aortic aneurysm |
OMIM:613075 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Mitra... |
OMIM:121050 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Mixed hearing impairment, Arterial dissection, Corneal opacity, Ataxia, Cer... |
ORPHA:666 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Aortic aneurysm,... |
ORPHA:805 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Hypertension, Anterior lenticonus, Hearing impairment |
OMIM:203780 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis, K... |
OMIM:278730 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... |
ORPHA:60030 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:168558 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Ventricular septal defect, Left atrial enlargement, Elevated circulating alpha-feto... |
OMIM:619991 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:289548 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:85138 |
Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Conductive hearing impair... |
ORPHA:90324 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, H... |
ORPHA:534 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bradycardia, Neonatal death, Mildly elevated creatine kinase |
OMIM:620351 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Sensorineural hearing impairment, Patent ductus arteriosus, Dysphagia, Bradycardia, Neu... |
OMIM:617248 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... |
ORPHA:2331 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Abnormal T-wave, Cataract, Low-set ears |
ORPHA:444072 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Aortic root an... |
OMIM:616652 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil... |
ORPHA:1054 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:293978 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Thoracic aortic aneurysm, Microcornea, Ascend... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse, Aortic aneurysm |
OMIM:166200 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Cystinosis, Nephropathic |
|
Hyponatremia, Corneal crystals, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Recur... |
OMIM:219800 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis |
ORPHA:544482 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity, Supravalvular aortic stenosis |
OMIM:219100 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Congestive heart failure, Protruding ear, Right bundle branch block, Ascending tubular ... |
OMIM:617403 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Sensorineural hearing impairment, Aortic root aneurysm, V... |
OMIM:615816 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi... |
ORPHA:90051 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment,... |
OMIM:182212 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating... |
ORPHA:90674 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Corneal opacity, Aortic aneurysm |
OMIM:150250 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Peripheral arteriovenous fistula, Va... |
ORPHA:286 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Cataract, Impulsivity, Anteverted ears, Patent ductus arteriosus, Aortic root aneu... |
OMIM:610443 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Prominent scalp veins, Corneal opacity, Optic nerve hypoplasia... |
ORPHA:536471 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Stroke-like episode |
OMIM:619272 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Protruding ear, Brux... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Protruding ear, Brux... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypsarrhythmia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Decr... |
ORPHA:580 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Subconju... |
ORPHA:319213 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Cataract, Sutural cataract, Sensorineural hearing impairment, Nuclear pulve... |
OMIM:612474 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Lethargy, Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
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Aortic root aneurysm, Mitral valve prolapse, Ectopia lentis |
OMIM:130000 |
Williams Syndrome |
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Elevated circulating creatine kinase concentration, Myocardial infarction, Abnormal cerebral vasc... |
ORPHA:904 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Overriding aorta, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histioc... |
OMIM:309801 |
Meester-Loeys Syndrome |
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Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Abnormal pinna morphology, Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuo... |
OMIM:614437 |
Zimmermann-Laband Syndrome 1 |
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Aortic arch aneurysm, Cataract, Posteriorly rotated ears, Splenomegaly, Patent ductus arteriosus,... |
OMIM:135500 |
1P36 Deletion Syndrome |
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Low-set, posteriorly rotated ears, Aortic arch aneurysm, Cataract, Abnormality of the spleen, Sen... |
ORPHA:1606 |
Proximal Spinal Muscular Atrophy |
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Inability to walk, Facial diplegia, Bradycardia, Difficulty walking, Dysphagia |
ORPHA:70 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Low-set ears |
OMIM:614653 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Aortic root a... |
ORPHA:730 |
Boudin-Mortier Syndrome |
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Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Tachycardia, Increased circulating thyroglobulin level |
OMIM:609152 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia |
OMIM:618426 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Bradycardia |
ORPHA:226313 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec... |
ORPHA:2388 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Shock, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension |
ORPHA:90794 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Ectopia lentis, Mitral valve prolapse, Hypertension, Keratoconjunctivitis sicca, Aortic root aneu... |
OMIM:616914 |
Legius Syndrome |
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Hyperactivity, Cataract, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Vestibular schw... |
ORPHA:137605 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil... |
ORPHA:731 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... |
OMIM:617506 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Hyponatremia |
OMIM:618252 |
Viss Syndrome |
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Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Choreoathetosis, Bra... |
OMIM:234200 |
Encephalitis Lethargica |
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Lethargy, Bradycardia |
ORPHA:83600 |
Teebi Hypertelorism Syndrome 1 |
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Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mi... |
ORPHA:536532 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Impulsivity, Corneal scarring, Anemia, Syncope, Abnormality of periph... |
ORPHA:642 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
Sotos Syndrome |
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Cataract, Aganglionic megacolon, Hypercalcemia, Aggressive behavior, Patent ductus arteriosus, Ao... |
ORPHA:821 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Yellow Fever |
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Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconus, Venous insufficiency, Decreased nerve conduction velocity, Ascending tubular aorta a... |
ORPHA:285 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Venous i... |
ORPHA:649 |
Charge Syndrome |
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Low-set, posteriorly rotated ears, Aortic arch aneurysm, Facial palsy, Hearing impairment, Extern... |
ORPHA:138 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Aortic root a... |
OMIM:245600 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Large fleshy ears... |
ORPHA:280633 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Broad-based gait, Aortic root aneurysm, Dysdiadochokinesis, Compulsive behaviors, Attention defic... |
OMIM:618891 |
Loeys-Dietz Syndrome 5 |
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Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... |
OMIM:615582 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
X Small Rings |
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Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Thickened helices, Conductive hearing impairment, Self-mutilation, Oppositional defiant disorder,... |
OMIM:607872 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e... |
ORPHA:99226 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Congestive heart failure, ... |
ORPHA:444077 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Opitz Gbbb Syndrome |
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Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, ... |
ORPHA:2745 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia, Lethargy, Abnormal circula... |
ORPHA:226307 |
Au-Kline Syndrome |
|
Sensorineural hearing impairment, Hypertension, Aortic root aneurysm, Microtia, Attention deficit... |
OMIM:616580 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Dilated cardiomyopathy, Abnormal blood ion concentration, Abnormal cornea morphology, Bradycardia... |
ORPHA:79404 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Inability to walk, Optic atrophy, Bradycardia |
ORPHA:97297 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ... |
ORPHA:287 |
Restrictive Dermopathy |
|
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... |
ORPHA:1662 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |