| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
| Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Small for gestational age, Upper limb phocomelia, Syndactyly, Stillbirth, Atypical s... |
ORPHA:294975 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Winchester Syndrome |
|
Carpal osteolysis, Broad metacarpals, Corneal opacity, Osteolysis involving tarsal bones |
OMIM:277950 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... |
OMIM:601376 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Megalocornea, Radioul... |
ORPHA:2741 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Metatarsal o... |
OMIM:166300 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... |
ORPHA:263297 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Finger syndactyly |
ORPHA:238446 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters ano... |
OMIM:610023 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Flexion contracture o... |
OMIM:619040 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Micrognathia, Met... |
ORPHA:2756 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Large for gestational age, Microcornea |
ORPHA:2432 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Mietens Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... |
ORPHA:2557 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Absent forearm, Micrognathia, Clinodactyly, O... |
OMIM:201170 |
| Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Retinal degeneration, Bone spicule pigmentation of the retina, Postaxial foot polyda... |
OMIM:615986 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... |
ORPHA:45452 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Parathyroid Carcinoma |
|
Weight loss, Lipoma, Dysphagia, Chondrocalcinosis, Shortened QT interval, Polydipsia |
ORPHA:143 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Cataract, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Coxa valga, Radioulnar dislocation, Radial bowing, Ulnar deviated club hands, Later... |
OMIM:164900 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Scheie Syndrome |
|
Genu valgum, Retinal degeneration, Aortic regurgitation, Pes cavus, Corneal opacity, Aortic valve... |
OMIM:607016 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG |
OMIM:300376 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, 2-3 toe syndactyly, Sho... |
ORPHA:37553 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Coloboma, Retinal atrophy, Narrow greater sciatic notch, Metaphyseal irr... |
ORPHA:85167 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... |
OMIM:300244 |
| Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
| Stuve-Wiedemann Syndrome 1 |
|
Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... |
OMIM:601559 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Dysphagia, Chondrocalcinosis, Shortened QT interval, Polydipsia |
ORPHA:99880 |
| Timothy Syndrome |
|
Syndactyly, Prolonged QT interval, Bradycardia, Cutaneous syndactyly |
OMIM:601005 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Short f... |
OMIM:607143 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma |
OMIM:258865 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis, Finger syndactyly |
ORPHA:3268 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Tapered finger, Clinodactyly of the 5th finger, Syndactyly, Attention deficit hyperactivity disor... |
OMIM:618725 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Dysphagia, ST segment elevation |
ORPHA:94125 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
| Mucolipidosis Type Iii |
|
Large iliac wing, Hypoplastic inferior ilia, Inguinal hernia, Corneal opacity, Abnormal hip bone ... |
ORPHA:577 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy,... |
OMIM:618815 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involvin... |
ORPHA:88630 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly, Optic atrophy |
OMIM:300928 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Optic atrophy, Congestive heart failure, Noncompaction cardiomyopathy, Dila... |
OMIM:610198 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Limited elbow extension, Abnormality of the ankle, Genu valgum, Hypoplasi... |
ORPHA:239 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Abnormal hand bone ossification, Lim... |
ORPHA:1505 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Erythrokeratodermia Variabilis |
|
Tapered finger, Weight loss, Cataract, Corneal opacity, Brachydactyly, Patchy palmoplantar hyperk... |
ORPHA:317 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Retinal degeneration, Syndactyly, Brachydactyly, Obesity |
OMIM:615982 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Knee flexion contracture, Achilles tendon contracture, Elbow flexion contra... |
OMIM:310300 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Corneal opac... |
OMIM:618961 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture, Cataract |
OMIM:615351 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
| Bartsocas-Papas Syndrome 2 |
|
Small hand, 2-5 finger cutaneous syndactyly, Micrognathia, Axillary pterygium, Antecubital pteryg... |
OMIM:619339 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Postaxia... |
ORPHA:380 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus |
OMIM:300434 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Hernia, Hip dislocation, Developmental cataract, Aortic regurgitation, Adducted thumb, Corneal op... |
OMIM:616603 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Flexion contracture, Micrognathia, 3-4 finger cutaneous syndacty... |
OMIM:620029 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Small for gestational age, Micrognathia, Hypoplas... |
OMIM:227270 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Optic atrophy, Abnormal EKG, Decreased/absent ankle reflexes, Pes cavus, Dysphagia, Cardiomyopathy |
ORPHA:1177 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Synostosis of carpal ... |
ORPHA:3250 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Micrognathia, Hip dysplasia, Developmental cataract, Talipes equinovalgus, Hypertr... |
OMIM:617183 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Patellar hypoplasia, Preaxial foot p... |
OMIM:603671 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hallux valgus, Hyperopic astigmatism, Obesity, Cone-shaped epiphyses of the 2nd to... |
ORPHA:397973 |
| Gordon Syndrome |
|
Camptodactyly of finger, Talipes, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Syndactyly, Iris coloboma, Radial deviation of finger, Cataract |
OMIM:300337 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Micrognathia, Metacarpal osteolysis, Pes cavus, Thin metacarpal cortic... |
OMIM:259600 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Tapered finger, Small for gestational age, Clinodactyly of the 5th finger, Failure... |
OMIM:609425 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal ossifi... |
ORPHA:166024 |
| Sclerosteosis |
|
Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Dia... |
ORPHA:3152 |
| Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... |
ORPHA:3163 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyperactivity dis... |
OMIM:152950 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, ... |
OMIM:113000 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Broad foot, Megalocornea, Short foot, Finger syndactyly, Small hand, Cli... |
ORPHA:915 |
| Multiple Endocrine Neoplasia Type 1 |
|
Multiple lipomas, Weight loss, Hypertension, Hematemesis, Shortened QT interval, Melena |
ORPHA:652 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Autosomal Dominant Keratitis |
|
Coloboma, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovasculariza... |
ORPHA:2334 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
| Scorpion Envenomation |
|
Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment... |
ORPHA:466677 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Popliteal pterygium, Mirror image f... |
OMIM:119800 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Mucolipidosis Iv |
|
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy |
OMIM:252650 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Morm Syndrome |
|
Retinal atrophy, Cataract, Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
| Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Optic atrophy, Toe syndactyly, Micrognathia, Flared... |
OMIM:201000 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Microcornea, Postaxial foot polydactyly, Iris coloboma, Cataract, Proximal pla... |
ORPHA:139471 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
| Atelosteogenesis Type Iii |
|
Short tibia, Hand clenching, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of t... |
ORPHA:56305 |
| Aminopterin Syndrome Sine Aminopterin |
|
Decreased body weight, Joint contracture of the hand, Micrognathia, Clinodactyly, Brachydactyly, ... |
OMIM:600325 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Abn... |
ORPHA:2092 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Bilateral single transverse palmar creases, Iris coloboma, C... |
ORPHA:2377 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Tapered finger, Heart murmur, Short finger, Cataract, Corneal opacity |
ORPHA:1867 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Genu valgum, Coxa valga, Bilateral talipes equ... |
OMIM:253010 |
| Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short... |
ORPHA:79444 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Corneal opacity, Chori... |
ORPHA:137902 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Inguinal hernia... |
ORPHA:93400 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, ... |
ORPHA:2839 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Facial telangiectasia, Developmental cataract, Contracture of the proximal interph... |
OMIM:620141 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Micrognathia, Popliteal pterygium, Corneal opaci... |
ORPHA:1234 |
| Gitelman Syndrome |
|
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... |
ORPHA:358 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Iris coloboma, Con... |
ORPHA:1647 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Hyaloid vascular remnant and re... |
ORPHA:91495 |
| Al-Gazali Syndrome |
|
Wrist flexion contracture, Bilateral talipes equinovarus, Micrognathia, Failure to thrive, Cornea... |
OMIM:609465 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb, Corneal opacit... |
ORPHA:1794 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Micrognathia, Hip dysplasia, Positional foot deformity, Optic nerve hypoplasia, Hy... |
ORPHA:496790 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Abnormal optic disc morphology, Tibial deviation of the 2nd toe, Sho... |
ORPHA:363417 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma, Short femoral neck, Broad tibial metaphyses |
OMIM:271630 |
| Alpha-Mannosidosis |
|
Hypoplastic inferior ilia, Hip dysplasia, Inguinal hernia, Cataract, Corneal opacity, Bowing of t... |
ORPHA:61 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Micro... |
OMIM:157900 |
| Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... |
OMIM:258315 |
| Mucolipidosis Iii Alpha/Beta |
|
Hyperopic astigmatism, Short ribs, Retinal degeneration, Short long bone, Irregular carpal bones,... |
OMIM:252600 |
| Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short... |
ORPHA:79443 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Chorio... |
ORPHA:231736 |
| Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Keratoglobus, Megalocornea, Inguinal hernia, Decreased corneal thickness, Corne... |
OMIM:614170 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Short palm, Hypertension |
ORPHA:79094 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Optic atrophy, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndacty... |
OMIM:605282 |
| Monosomy 5P |
|
Inguinal hernia, Small hand, Finger syndactyly, Microretrognathia |
ORPHA:281 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity, A... |
ORPHA:290 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Coxa valga, Small for gestational age, Arthrogryposis multiplex congenita, Optic nerve hypoplasia... |
OMIM:301056 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Flared iliac wing, Flat capital femoral epiphysis, Aortic regurgitation, Abnormality... |
OMIM:252605 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
| Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval... |
ORPHA:36913 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
| Shox-Related Short Stature |
|
Genu valgum, Short foot, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ulnar radial head ... |
ORPHA:314795 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia |
ORPHA:251274 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Hyperactivity, Short first metatarsal, Micrognathia, Broad hallux, Syndactyly, Bro... |
OMIM:613684 |
| Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Inguinal hernia, Corneal opacity, Umbilical hernia |
ORPHA:87876 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Enamel hypoplasia, F... |
OMIM:270200 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Split hand,... |
ORPHA:1406 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Micrognathia, Aortic regurgitation, Ing... |
OMIM:607015 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
| Rett Syndrome |
|
Abnormal T-wave, Short foot, Cachexia, Prolonged QTc interval |
OMIM:312750 |
| Hurler Syndrome |
|
Flexion contracture, Coxa valga, Hernia, Retinal degeneration, Flared iliac wing, Hypoplasia of t... |
OMIM:607014 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Ulnar bowing, Aplasia/Hypoplasia of the radius, Corneal opacity, Micromelia, Madel... |
ORPHA:1765 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Weaver Syndrome |
|
Camptodactyly of finger, Broad foot, Finger syndactyly, Micrognathia, Pes cavus, Inguinal hernia,... |
ORPHA:3447 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Congenital hip dislocat... |
OMIM:169550 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... |
OMIM:614613 |
| Hurler-Scheie Syndrome |
|
Hernia, Corneal opacity, Cardiomyopathy |
ORPHA:93476 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Limb undergrowth, Mesomeli... |
OMIM:601356 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Coloboma, Corneal opacity |
OMIM:613153 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
| Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Pseudopapilledema, Short metacarpal, Small for gestational a... |
ORPHA:2980 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, ... |
ORPHA:96334 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Clubbing of fingers, Palpitations, Abnormal P wave, Tricuspid regurgitatio... |
ORPHA:99106 |
| Wagro Syndrome |
|
Micrognathia, Hypertension, Agitation, Cataract, Polyphagia, Corneal opacity, Obesity, Aniridia |
OMIM:612469 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia... |
ORPHA:26793 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Acral ulceration, Keratitis, Opacification of the corneal stroma... |
OMIM:256800 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Hallux valgus, Patellar dislocation, Multiple joint contractures, Micrognath... |
ORPHA:536471 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Keloids, Abnormal pelvis bone ossification, Abno... |
ORPHA:166119 |
| Gm1 Gangliosidosis |
|
Oral aversion, Camptodactyly of finger, Weight loss, Optic atrophy, Coarse metaphyseal trabecular... |
ORPHA:354 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Failure to thrive, Prolonged QT interval, Lipodystrophy, Dysphagia, Bradycar... |
OMIM:613327 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Multiple lipomas, Lipomas of eyelids, Coloboma, Clinodactyly of the 5th finger, Cataract, Corneal... |
ORPHA:2399 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Hyperactivity, Short metacarpal, Arrhythmia, Short metatarsal... |
OMIM:600430 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Iris coloboma, Br... |
ORPHA:1553 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly, Congenital diaphragmatic hernia, Omph... |
OMIM:601163 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Ch... |
OMIM:120200 |
| Norrie Disease |
|
Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Catarac... |
OMIM:310600 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Hypoplasia of t... |
OMIM:212780 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Megalocornea, Optic atrophy, Wolff-Parki... |
ORPHA:137675 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Abnormal EKG, Elevated jugul... |
ORPHA:2041 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Coloboma, Rhizomelia, Pes planus, Recurrent patellar dislocation, Microcornea... |
OMIM:615877 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... |
ORPHA:85451 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Short foot, Keloids, Micrognathia, Slender long bone, Corneal stromal edema, Palmopl... |
OMIM:601812 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Flexion contracture, Sinus tachycardia, Flared iliac wing, Tricuspid regu... |
OMIM:253200 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Acro-Renal-Ocular Syndrome |
|
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Optic d... |
ORPHA:959 |
| Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Camptodactyly of finger, Deviation of finger... |
ORPHA:464 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Inguinal hernia, Brachyd... |
OMIM:619451 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Myocarditis, Pedal edema, Reduced left ventricu... |
ORPHA:563 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Optic atrophy, Short metacarpal, Small for gestational age, High axial triradius, ... |
OMIM:123450 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Optic atrophy, Cerebral ischemia, Toe syndactyly, Foot polydactyly, Hand polyd... |
ORPHA:60040 |
| Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Achilles te... |
OMIM:310200 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Hyperactivity, Tapered finger, Hallux valgus, Short 5th finger, Failure to th... |
ORPHA:485405 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Abnormal foot morphology, Toe syndactyly, Cataract, Preaxial polydactyly |
ORPHA:64754 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Microretrognathia, Arthrogryposis multiplex c... |
OMIM:236500 |
| Distal Monosomy 6P |
|
Posterior embryotoxon, Short foot, Hypoplasia of the iris, Micrognathia, Anterior synechiae of th... |
ORPHA:96125 |
| Wild Type Attr Amyloidosis |
|
