| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... |
OMIM:613980 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... |
OMIM:607554 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes |
OMIM:612955 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... |
ORPHA:90647 |
| Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... |
OMIM:617047 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... |
ORPHA:66529 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, Increased QRS volta... |
OMIM:619040 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple... |
ORPHA:398124 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... |
OMIM:618052 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... |
ORPHA:2485 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... |
ORPHA:210110 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
| Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Vasculitis, Leukocytosis, Splenomegaly |
ORPHA:37748 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... |
OMIM:611490 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
| 3-Methylglutaconic Aciduria, Type V |
|
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Normochromic micro... |
OMIM:610198 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
| Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Ventricular arrhythmia, Abnormal left ventricular function, Prolo... |
ORPHA:36913 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... |
ORPHA:37553 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Prolonged QT interval, Increased bone density with cystic changes... |
ORPHA:94089 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Joint contracture, Prolonged QT interval |
OMIM:615351 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... |
ORPHA:90065 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... |
OMIM:601005 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... |
ORPHA:57777 |
| Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Pancytopenia, Recurrent fractu... |
OMIM:259710 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Osteoporosis, Splenomegaly, ... |
OMIM:613327 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis, Extramedullary ... |
OMIM:612840 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min... |
OMIM:259700 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
OMIM:310300 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly |
OMIM:615085 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Arthritis, Recurrent fractures, Abnormal leukocyte morphology, Osteoarthritis, Generalize... |
ORPHA:53 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Thrombocytopenia, Anemia |
ORPHA:231111 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Cor... |
OMIM:616943 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... |
OMIM:608751 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia |
OMIM:616437 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Flexion c... |
ORPHA:77297 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... |
ORPHA:26793 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... |
OMIM:608758 |
| Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Joint hypermobility, Pa... |
OMIM:170390 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy, Intention tr... |
OMIM:215470 |
| Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
| Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... |
OMIM:613507 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Neonatal death, Dystonia, Abnormal anterior horn cell mor... |
OMIM:611890 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Prolonged ... |
ORPHA:66634 |
| Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... |
ORPHA:85451 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... |
ORPHA:1782 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Dysphagia, Pseudobulbar paralysis |
OMIM:606353 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility |
ORPHA:628 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... |
OMIM:614856 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... |
OMIM:612422 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Joint hypermobility, Prolonged QT interval |
OMIM:300352 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Hypochromic microcytic anemia, Pancytopenia, Increas... |
OMIM:259720 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve... |
OMIM:616878 |
| Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
| Ethylene Glycol Poisoning |
|
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... |
ORPHA:31826 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259730 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Prolonged QT interval, Flexion contracture, Camptodactyly |
OMIM:620029 |
| Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Prolonged QT interval, Increased bone mineral density, Hypertension... |
ORPHA:79443 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy |
ORPHA:71212 |
| Gitelman Syndrome |
|
Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Low-to-normal blood pressure, ST... |
ORPHA:358 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Prolonged QT interval |
ORPHA:79444 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Increased bone mineral density, Aortic valve stenosis, Coarse metaphyseal trabecul... |
ORPHA:2780 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... |
ORPHA:79102 |
| Camurati-Engelmann Disease |
|
Anemia, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone di... |
OMIM:131300 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures |
OMIM:239000 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia |
OMIM:263800 |
| Werner Syndrome |
|
Congestive heart failure, Increased bone mineral density, Hypertension, Osteoporosis, Joint stiff... |
ORPHA:902 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Dysphagia, Abnormal lower motor neuron morphology |
ORPHA:2590 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... |
ORPHA:75565 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... |
ORPHA:563 |
| Coronary Arterial Fistula |
|
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... |
ORPHA:2041 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... |
ORPHA:466650 |
| Dpagt1-Cdg |
|
Anemia, Prolonged QT interval, Camptodactyly, Osteoporosis, Flexion contracture, Intracranial hem... |
ORPHA:86309 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Gaucher Disease Type 3 |
|
Anemia, Pancytopenia, Increased bone mineral density, Pulmonary arterial hypertension, Thrombocyt... |
ORPHA:77261 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Intermittent claudication, Atrioventricular block, Raynaud phenom... |
OMIM:259900 |
| Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Cardiomyopathy, Hamstring contractures, Achilles tendon contracture, Ar... |
OMIM:310200 |
| Pycnodysostosis |
|
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... |
ORPHA:763 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Disinhibition, Dy... |
ORPHA:275872 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... |
OMIM:602433 |
| Poems Syndrome |
|
Sclerosis of hand bone, Pulmonary arterial hypertension, Sclerosis of foot bone, Polycythemia, Sp... |
ORPHA:2905 |
| Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Inappropriate behavior, Disinhibition, Abnormal upper motor neuron morphology, Aggressive behavior |
OMIM:221770 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... |
ORPHA:99106 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Abnormal upper motor neuron morphology, Arm dystonia, Head titubation, Dystonia, Opi... |
OMIM:205100 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613954 |
| Gaucher Disease |
|
Osteopenia, Anemia, Pancytopenia, Increased bone mineral density, Abnormal bone structure, Spleni... |
ORPHA:355 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Dysphagia, Degeneration of anterior horn ... |
ORPHA:276244 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Cardiomyopathy, Camptodactyly of finger, Splenomegaly, Bundle branch block... |
ORPHA:373 |
| Trichothiodystrophy |
|
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... |
ORPHA:33364 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Anemia, Thickened cortex of long bones |
OMIM:127000 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... |
ORPHA:99103 |
| 17Q24.2 Microdeletion Syndrome |
|
Pulmonic stenosis, Prolonged QT interval |
ORPHA:529962 |
| Primary Hyperoxaluria |
|
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Generalized osteoscle... |
ORPHA:416 |
| 12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Reduced bone mineral density, Prolonged QT interval, Hypertension, Osteoporosis, Myoc... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Reduced bone mineral density, Prolonged QT interval, Hypertension, Osteoporosis, Myoc... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Reduced bone mineral density, Prolonged QT interval, Hypertension, Osteoporosis, Myoc... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Reduced bone mineral density, Prolonged QT interval, Hypertension, Osteoporosis, Myoc... |
ORPHA:99226 |
| Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... |
OMIM:615745 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma... |
ORPHA:800 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f... |
ORPHA:90652 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... |
ORPHA:3093 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Tachycardia, Prolonged QT interval |
ORPHA:1772 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly |
OMIM:612301 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Tremor, Cerebellar atrophy, Impulsivity, Dystonia, Generalized dystonia, ... |
OMIM:614298 |
| Japanese Encephalitis |
|
Anorexia, Pill-rolling tremor, Hyperintensity of MRI T2 signal of the spinal cord, Tremor, Abnorm... |
ORPHA:79139 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Osteoporosis |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Osteoporosis |
ORPHA:143 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Atypical Werner Syndrome |
|
Congestive heart failure, Reduced bone mineral density, Osteolytic defects of the phalanges of th... |
ORPHA:79474 |
| Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Limited knee flexion/extension, Reduced left ventricular ejection fractio... |
ORPHA:268 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... |
ORPHA:70591 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Anemia, Howell-Jolly bodies, Hypertrophic cardiomyopathy, Jaw claudi... |
ORPHA:85443 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Anemia, Pancytopenia, Pulmonary arterial hypertension, Elliptocytosis, Leukopenia,... |
ORPHA:2785 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Reduced bone mineral density, Melena, Hypertension, Shortened QT interval, Osteolysi... |
ORPHA:652 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Anemia, Pulmonary arterial hypertension, Splenomegal... |
ORPHA:667 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Williams Syndrome |
|
Osteopenia, Congestive heart failure, Increased bone mineral density, Hypertension, Synostosis of... |
ORPHA:904 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Resting tremor, Abnormal upper motor neuron morphology |
OMIM:601162 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Abnormal EKG |
ORPHA:230 |
| Friedreich Ataxia |
|
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy |
OMIM:229300 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Dextrocardia |
|
T-wave inversion, Abnormality of the spleen, Abnormal EKG |
ORPHA:1666 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Abnormal EKG, Telangiectasia |
ORPHA:93400 |
| Cardiac Diverticulum |
|
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... |
ORPHA:1686 |
| Noonan Syndrome |
|
Osteopenia, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Arrhythmia, Abnormalit... |
ORPHA:648 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Splenopancreatic fusion, Thickened cort... |
OMIM:269150 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... |
ORPHA:980 |
| African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Pericarditis, Hepatosplenomegaly, Splenomegaly, Arrhythmia... |
ORPHA:3385 |
| Friedreich Ataxia 2 |
|
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Limitation of joint mobility, Flexion contracture |
ORPHA:1545 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Limited elbow extension |
OMIM:610313 |
