Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... |
OMIM:118651 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... |
ORPHA:2098 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... |
OMIM:249700 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Sick sinus syndrome, Ulnar deviation of the 2nd finger, Brachydac... |
OMIM:140450 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... |
OMIM:127300 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... |
OMIM:618447 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... |
OMIM:135750 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... |
ORPHA:240 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand |
OMIM:228250 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... |
OMIM:619217 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... |
ORPHA:93356 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... |
OMIM:612576 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... |
OMIM:119100 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... |
OMIM:113310 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palmop... |
OMIM:611528 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... |
OMIM:228900 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... |
ORPHA:85170 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... |
OMIM:201170 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... |
ORPHA:79106 |
Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... |
OMIM:258860 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... |
ORPHA:3344 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... |
OMIM:614022 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
Myopathy, Myofibrillar, 1 |
|
Hyporeflexia of lower limbs, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic car... |
OMIM:601419 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... |
ORPHA:166016 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... |
ORPHA:2634 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Cone-shaped epiphysis, Brach... |
ORPHA:1505 |
Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... |
ORPHA:2378 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... |
OMIM:268305 |
Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing, Micrognathia |
OMIM:138930 |
Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... |
OMIM:601559 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... |
OMIM:251230 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar dislocation, Kn... |
ORPHA:56305 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... |
ORPHA:1106 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Arrhythmia, Sh... |
OMIM:171480 |
Faciocardiomelic Dysplasia, Lethal |
|
Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Hypoplasia of the ulna, Microgn... |
OMIM:227270 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga, Metatarsus adduc... |
ORPHA:356961 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epip... |
OMIM:600785 |
Acromesomelic Dysplasia 3 |
|
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... |
OMIM:609441 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Ulnar bowing, Coxa vara, Flared... |
OMIM:602111 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Talipes equinovarus, Hypoplasia ... |
OMIM:607143 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Hypoplastic acetabulae, Ulnar b... |
OMIM:620076 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... |
OMIM:119800 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
Shox-Related Short Stature |
|
Forearm undergrowth, Lower limb undergrowth, Micrognathia, Short foot, Genu valgum, Ulnar radial ... |
ORPHA:314795 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Short ribs, Postaxia... |
OMIM:613091 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... |
OMIM:608940 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Femoral-Facial Syndrome |
|
Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot polydactyly, Short f... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... |
OMIM:616300 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Mesomelia, Radial bowing, Fibular hypoplasia, Lateral humeral condyle aplasia |
OMIM:164900 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm |
ORPHA:542306 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones |
OMIM:165590 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... |
ORPHA:3320 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Omodysplasia 1 |
|
Short humerus, Anterolateral radial head dislocation, Rhizomelia, Short tibia, Micrognathia, Hypo... |
OMIM:258315 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Tapered finger, Long fingers, Atrioventricular block, Bradyc... |
OMIM:614407 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the maxilla, Third d... |
ORPHA:40366 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Short ribs, Postaxial polysyndactyly of foot, Disproportionate shorteni... |
OMIM:263520 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous syndactyly, Atrioventricular ... |
OMIM:601005 |
Orofaciodigital Syndrome Type 2 |
|
Hand polydactyly, Y-shaped metacarpals, Limb undergrowth, Polysyndactyly of hallux, Short tibia, ... |
ORPHA:2751 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Bradycardia, Arrhythmia, Congestive heart failure, Orthostatic hypotension due to a... |
ORPHA:330001 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Hypertrophic card... |
ORPHA:96334 |
Acromelic Frontonasal Dysostosis |
|
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... |
OMIM:603671 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology |
ORPHA:95717 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short tibia, Short long bone, Fibular hy... |
OMIM:617925 |
Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... |
OMIM:223800 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrognathia, Radioulnar synostos... |
ORPHA:1788 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing |
OMIM:114000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Eiken Syndrome |
|
Broad metatarsal, Clinodactyly, Flattened epiphysis, Long thumb, Flat acetabular roof, Delayed os... |
OMIM:600002 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormality of fibula morphology, Abnormality of the lower limb, Lower limb undergrowth, Microgna... |
ORPHA:3035 |
Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... |
OMIM:108720 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block |
OMIM:619814 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia, A... |
ORPHA:226313 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Femoral bowing, Fibular bowing,... |
ORPHA:85165 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... |
OMIM:618150 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
Acro-Renal-Mandibular Syndrome |
|
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypoplasia of... |
ORPHA:958 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Pedal edema |
OMIM:126320 |
Glutamine Deficiency, Congenital |
|
Micromelia, Camptodactyly, Bradycardia |
OMIM:610015 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Fibrochondrogenesis 1 |
|
Camptodactyly, Short ribs, Posterior vertebral hypoplasia, Rhizomelia, Hypoplastic scapulae, Broa... |
OMIM:228520 |
Omodysplasia 2 |
|
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Fibular hypoplasia, Rhiz... |
OMIM:164745 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology |
ORPHA:95716 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... |
ORPHA:2879 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Cln3 Disease |
|
Bradycardia, T-wave inversion |
ORPHA:228346 |
Occipital Horn Syndrome |
|
Down-sloping shoulders, Pes planus, Hip dislocation, Hip dysplasia, Abnormality of fibula morphol... |
ORPHA:198 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Micrognathia |
OMIM:614498 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hand polydactyly, Early ossification of capital femoral epiphyses, Short ribs, Foot polydactyly, ... |
OMIM:208500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Arrhythmia, Cardiomyopathy |
OMIM:609286 |
Mesomelia-Synostoses Syndrome |
|
Distal femoral bowing, Short metatarsal, Tarsometatarsal synostosis, Carpometacarpal synostosis, ... |
OMIM:600383 |
Acrorenal-Mandibular Syndrome |
|
Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot polydactyly, Microgna... |
OMIM:200980 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Hypoplastic vertebral bodies, Dumbb... |
ORPHA:3144 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... |
OMIM:274000 |
Campomelic Dysplasia |
|
Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathia, Short long bo... |
ORPHA:140 |
Tetanus |
|
Bradycardia, Hypertension, Tachycardia |
ORPHA:3299 |
Acromelic Frontonasal Dysplasia |
|
Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly |
ORPHA:1827 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... |
OMIM:276820 |
Hydrolethalus Syndrome 1 |
|
Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper limb undergrowth, Micrognathi... |
OMIM:236680 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Prominent calcaneus, Bradycardia |
ORPHA:565624 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,... |
OMIM:114290 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia |
OMIM:613327 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Necrotizing Enterocolitis |
|
Bradycardia, Shock, Hypotension |
ORPHA:391673 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology |
ORPHA:90673 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy |
OMIM:618775 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Glossopharyngeal Neuralgia |
|
Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hypertension, Talipes equinovarus, Bradycardia, Tachycardia, Retinal hemorrhage |
OMIM:614653 |
Proximal Spinal Muscular Atrophy |
|
Hip dislocation, Distal lower limb muscle weakness, Absent patellar reflexes, Knee flexion contra... |
ORPHA:70 |
Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Rad... |
OMIM:304120 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Sepsis In Premature Infants |
|
Bradycardia, Tachycardia, Hypotension |
ORPHA:90051 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hypertensive... |
ORPHA:94093 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micro... |
ORPHA:2753 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology |
ORPHA:90674 |
Cranioectodermal Dysplasia 1 |
|
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened e... |
OMIM:218330 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia |
ORPHA:319213 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... |
ORPHA:99827 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, Camptodactyly, Paranasal sinus hypoplasia, Flexion contracture of toe, Fibul... |
OMIM:300373 |
Charge Syndrome |
|
Down-sloping shoulders, Hand polydactyly, Absent radius, Absent tibia, Bilateral talipes equinova... |
OMIM:214800 |
Sheehan Syndrome |
|
Bradycardia, Palpitations, Orthostatic hypotension |
ORPHA:91355 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Short finger, Hand polydactyly, Abnormal epiphysis morphology, Delayed proximal femoral epiphysea... |
ORPHA:226307 |
Bohring-Opitz Syndrome |
|
Bradycardia, Metacarpophalangeal joint contracture, Micrognathia |
ORPHA:97297 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Arachnodactyly, Pulmonary insufficiency, Micrognathia |
OMIM:614437 |
Marburg Hemorrhagic Fever |
|
Hypotension, Capillary leak, Subconjunctival hemorrhage, Shock, Hypovolemia, Internal hemorrhage,... |
ORPHA:99826 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... |
ORPHA:99829 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy, Abnormal fingertip morphology |
ORPHA:79404 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |