| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... |
ORPHA:3246 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Syndactyly Type 1 |
|
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... |
ORPHA:93402 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... |
ORPHA:93323 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| 15Q11Q13 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Finger syndactyly, Clinodactyly of the 5th finger, Comp... |
ORPHA:238446 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly |
OMIM:234280 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Winchester Syndrome |
|
Osteolysis involving tarsal bones, Broad metacarpals, Corneal opacity, Carpal osteolysis |
OMIM:277950 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... |
OMIM:618447 |
| Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... |
OMIM:613980 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... |
OMIM:612422 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... |
ORPHA:263297 |
| Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... |
OMIM:605274 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Atypical scarring o... |
ORPHA:294975 |
| Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... |
OMIM:174200 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... |
OMIM:607554 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,... |
ORPHA:2741 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Metacarpal osteolysis, Pes cavus, Congenital diaphragmatic hernia, Wrist swelling... |
OMIM:166300 |
| Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, C... |
ORPHA:2370 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Coloboma, Syndactyly, Brachydactyly, Peters anomaly, Clinodac... |
OMIM:610023 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Fraxe Intellectual Disability |
|
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... |
ORPHA:100973 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Elbow flexion contracture, Increas... |
OMIM:619040 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb |
ORPHA:2935 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Congenital bilateral hip dislocation, Cataract, Small for gestational age, Talipes... |
ORPHA:85288 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polydactyly, Bone spicule pigmentation of the retina, Astigmatism, Postaxial hand pol... |
OMIM:615986 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... |
ORPHA:90065 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... |
ORPHA:2557 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Obesity, Syndactyly, Attention deficit hyperactivity disorder, Ta... |
OMIM:618725 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microcornea, Corneal opacity |
ORPHA:2432 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... |
OMIM:201170 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Cataract, Truncal obesity, Aggressive behavior |
ORPHA:75858 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor... |
OMIM:170390 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Bilateral coxa valga, Hypertrophic cardiomyopathy, Obesity, Aggressive behavior |
OMIM:620270 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... |
OMIM:612447 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... |
OMIM:183600 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... |
OMIM:610202 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Reduced le... |
ORPHA:45452 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... |
ORPHA:2141 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... |
ORPHA:99103 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Obesity, Syndactyly, Brachydactyly |
OMIM:615983 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Parathyroid Carcinoma |
|
Polydipsia, Lipoma, Shortened QT interval, Dysphagia, Weight loss, Chondrocalcinosis |
ORPHA:143 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Co... |
OMIM:271530 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... |
ORPHA:1106 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Abnormal cornea morpholo... |
ORPHA:65759 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Dysphagia |
ORPHA:94125 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ... |
OMIM:164900 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Retinal atrophy, Short long bone, Short metacarpal, Corneal opacity... |
ORPHA:85167 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Lipoma, Shortened QT interval, Dysphagia, Chondrocalcinosis |
ORPHA:99880 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism, Hip dislocation, Short foot, Talipes equinovarus, Small hand |
OMIM:300434 |
| Chromosome 3Q29 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Hyperactivity, Tapered finger, Failure to thrive, Long fingers, M... |
OMIM:609425 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones |
OMIM:600384 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Clinodactyly, Hyperactivity |
OMIM:300928 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged Q... |
ORPHA:37553 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... |
OMIM:300244 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... |
ORPHA:1473 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
| Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Pterygiu... |
OMIM:618052 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:3268 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra... |
OMIM:618815 |
| Mucolipidosis Type Iii |
|
Abnormal hip bone morphology, Inguinal hernia, Corneal opacity, Large iliac wing, Hypoplastic inf... |
ORPHA:577 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes |
OMIM:612955 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... |
ORPHA:88630 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... |
OMIM:617047 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Eiken Syndrome |
|
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... |
ORPHA:79106 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Thiel-Behnke Corneal Dystrophy |
|
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... |
ORPHA:98960 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmon... |
OMIM:620141 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Ventricular arrhythmia, Ventricular t... |
OMIM:611528 |
| Wagro Syndrome |
|
Agitation, Aniridia, Emotional lability, Low frustration tolerance, Hypertension, Corneal opacity... |
OMIM:612469 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Short finger, Clinodactyly of the 5th finger, Hyperactivity, Depression, 2-3 toe syndactyly, Comp... |
OMIM:619467 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... |
ORPHA:370010 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| 3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Fai... |
OMIM:610198 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... |
OMIM:225280 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Prolonged QT interval, 3-4 finger cutaneous syndactyly, Optic nerve... |
OMIM:620029 |
| Erythrokeratodermia Variabilis |
|
Corneal opacity, Patchy palmoplantar hyperkeratosis, Brachydactyly, Weight loss, Cataract, Tapere... |
ORPHA:317 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... |
OMIM:601005 |
| Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Y-shaped metatarsals, Inguinal hernia, Keratoconus, Postaxial hand polydactyl... |
OMIM:175700 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
OMIM:310300 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Slc35A2-Cdg |
|
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Apl... |
ORPHA:356961 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Obesity, Syndactyly, Brachydactyly, Retinal degeneration |
OMIM:615982 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Agitation, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corne... |
OMIM:152950 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... |
ORPHA:57777 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Joint contracture, Prolonged QT interval |
OMIM:615351 |
| Pseudohypoparathyroidism Type 1B |
|
Irritability, Prolonged QT interval, Diaphyseal sclerosis, Depression, Cortical subperiosteal res... |
ORPHA:94089 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal w... |
OMIM:618961 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Anorexia, Melena, Depression, Hypertension, Shortened QT interval, Weight loss, Mult... |
ORPHA:652 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Short ribs, Failure to thri... |
OMIM:607143 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Corneal opacity, Cataract |
ORPHA:90654 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Femoral bowing, Retinal atrophy, Tibial bowing, Short long bone, Sh... |
OMIM:608940 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broa... |
ORPHA:380 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Autoimmune Hypoparathyroidism |
|
Irritability, Prolonged QT interval, Depression, Ventricular arrhythmia, Conjunctivitis, Cataract... |
ORPHA:36913 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the toes, ... |
ORPHA:397973 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes |
ORPHA:90647 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia |
OMIM:617182 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Rett Syndrome |
|
Prolonged QTc interval, Cachexia, Stereotypical hand wringing, Bruxism, Short foot, Abnormal T-wave |
OMIM:312750 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, 2-5 finger cut... |
OMIM:619339 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Irritability, Prolonged QT interval, Short metatarsal, Depression, Short fi... |
ORPHA:79444 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Corneal opacity, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract... |
OMIM:617183 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... |
OMIM:102510 |
| Proximal Symphalangism |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... |
ORPHA:3250 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... |
ORPHA:1263 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Pes cavus, Abnormal EKG, Dysphagia, Decreased/absent ankle reflexes |
ORPHA:1177 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly of the 5th finger |
ORPHA:376 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ... |
OMIM:600430 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, Talipes, Clinodactyly of the 5th finger, Inguinal hernia, Genu recurvat... |
ORPHA:915 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract... |
OMIM:259600 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
| Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Mydriasis, Prominent U wave, Hypertension, Premature ventr... |
ORPHA:466677 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Hand polydactyly, Syndactyly, Cataract, Clinodactyly, Iris coloboma |
OMIM:300337 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Clinod... |
ORPHA:166024 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... |
OMIM:610256 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Hyperactivity, Impulsivity, External tibial torsion, Coxa vara, Facial telangiectasia, Talipes eq... |
OMIM:620445 |
| Norrie Disease |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... |
OMIM:310600 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Compulsive behaviors, Cataract, Attention deficit hypera... |
OMIM:261600 |
| Sclerosteosis |
|
Optic atrophy, Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved dista... |
ORPHA:3152 |
| Short Syndrome |
|
Abnormal anterior chamber morphology, Inguinal hernia, Abnormal dental enamel morphology, Corneal... |
ORPHA:3163 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... |
OMIM:619927 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... |
ORPHA:2334 |
| Gand Syndrome |
|
Hyperactivity, Long fingers, Inappropriate laughter, Tics, Long toe |
OMIM:615074 |
| Summitt Syndrome |
|
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... |
ORPHA:3210 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... |
OMIM:113000 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Autoamputation... |
OMIM:256800 |
| Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
| Mucolipidosis Iv |
|
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity |
OMIM:252650 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Irritability, Prolonged QT interval, Short metatarsal, Depression, Band ker... |
ORPHA:79443 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone morphology, ... |
ORPHA:2788 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Sandal gap, Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive beha... |
OMIM:615516 |
| Scheie Syndrome |
|
Pes cavus, Genu valgum, Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Mitral sten... |
OMIM:607016 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... |
ORPHA:3077 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... |
ORPHA:171673 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... |
OMIM:201000 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Genu valgum, Inguinal hernia, Epiphyseal deformities of tubular bones, Corneal op... |
OMIM:253010 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... |
ORPHA:56305 |
| Al-Gazali Syndrome |
|
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ... |
OMIM:609465 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Decreased body weight, Umbilical hernia, Arachnodactyly, Rudimentary postaxial p... |
OMIM:600325 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... |
ORPHA:392 |
| Microphthalmia With Brain And Digit Anomalies |
|
Proximal placement of thumb, Finger syndactyly, Microcornea, Sclerocornea, Chorioretinal coloboma... |
ORPHA:139471 |
| Cri-Du-Chat Syndrome |
|
Optic atrophy, Short metatarsal, Inguinal hernia, Hyperactivity, Self-mutilation, Single transver... |
OMIM:123450 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Short ribs, Corneal opacity, Hypoplastic pelvis, Split foot, Upp... |
ORPHA:2092 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion |
OMIM:608470 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, Obesity, Brachyd... |
ORPHA:2377 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... |
OMIM:620076 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short finger, Corneal opacity, Heart murmur, Cataract, Tapered finger |
ORPHA:1867 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea |
OMIM:217300 |
| Gitelman Syndrome |
|
Polydipsia, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment dep... |
ORPHA:358 |
| Moebius Syndrome |
|
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... |
OMIM:157900 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Talipes, Finger syndactyly, Corneal opacity, Aplasia/Hypoplasia of the dista... |
ORPHA:1234 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Polydactyly, Inguinal hernia, Corneal opacity, Developmental cataract, Umbilical h... |
ORPHA:93400 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy, Micrognathia... |
ORPHA:496790 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... |
ORPHA:2839 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Microcornea, Corneal opacity, Persistent pupillary mem... |
ORPHA:91495 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Hyperactivity, Prominent fingertip pads, Broad thumb, Micr... |
OMIM:613684 |
| Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Radial deviation of finger, Clinodactyly of the 2nd finger, Abnormal optic disc morphology, Optic... |
ORPHA:363417 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly... |
ORPHA:1794 |
| Distal Deletion 6P |
|
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Hypoplasia... |
ORPHA:96125 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Talipes, Finger syndactyly, Corneal opacity, Missing ribs, Conge... |
ORPHA:1647 |
| Dpagt1-Cdg |
|
Optic atrophy, Emotional blunting, Astigmatism, Prolonged QT interval, Head-banging, Camptodactyl... |
ORPHA:86309 |
| Omodysplasia 1 |
|
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... |
OMIM:258315 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... |
OMIM:620662 |
| 17Q24.2 Microdeletion Syndrome |
|
Abnormality of the wrist, Prolonged QT interval, Cubitus valgus, Upper limb undergrowth, Emotiona... |
ORPHA:529962 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom... |
ORPHA:231736 |
| Alpha-Mannosidosis |
|
Inguinal hernia, Corneal opacity, Bowing of the long bones, Hypoplastic inferior ilia, Hip dyspla... |
ORPHA:61 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Overlapping fingers, Astigmatism, Deep palmar crease, Talipes equinovarus, Op... |
OMIM:301056 |
| Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, 2-3 toe syndactyly, Prominent fingertip pads, Attention deficit hyper... |
ORPHA:485405 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Hyperactivity, Short metacarpal, Short phalanx of finger, Obesity, Brachydactyl... |
OMIM:614613 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Grange Syndrome |
|
Short palm, Hypertension, Aortic regurgitation, Syndactyly |
ORPHA:79094 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... |
OMIM:616300 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Per... |
OMIM:221900 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... |
OMIM:608751 |
| Monosomy 5P |
|
Finger syndactyly, Inguinal hernia, Microretrognathia, Small hand |
ORPHA:281 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, A... |
ORPHA:1988 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Hallux valgus, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
| Brittle Cornea Syndrome 2 |
|
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... |
OMIM:614170 |
| Congenital Rubella Syndrome |
|
Abnormal metaphysis morphology, Corneal opacity, Abnormality of retinal pigmentation, Cataract, A... |
ORPHA:290 |
| Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Flexion contracture, Umbilical hernia, Pedal edema |
ORPHA:87876 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... |
ORPHA:314795 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyl... |
OMIM:605282 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... |
OMIM:608758 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Obsessive-compulsive trait, Broad distal phalanx of finger, Astigmatism, Hyperactivity, Optic ner... |
ORPHA:363686 |
| Neonatal Lupus Erythematosus |
|
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... |
ORPHA:398124 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... |
OMIM:274000 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... |
OMIM:613091 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Pes cavus, Prolonged QT interval, Failure to thrive, Motor stereotypy, Attention deficit hyperact... |
OMIM:300352 |
| Atrial Septal Defect, Ostium Primum Type |
|
Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, F... |
ORPHA:99106 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Bradycardia, Atrial fibrillation, Failure to thrive, Dysphagia, Lipodystro... |
OMIM:613327 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck |
OMIM:271630 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Acrootoocular Syndrome |
|
Short finger, Grayish enamel, Sandal gap, Short metacarpal, Short foot, Small thenar eminence, Ch... |
ORPHA:2980 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... |
OMIM:119800 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Agitation, Abnormal foot morphology, Ocular anterior segment dysgenesis,... |
ORPHA:369891 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Aortic regurgitation, Inguinal hernia, Short ribs, Cardiomyopathy, Short ... |
OMIM:252600 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... |
ORPHA:1406 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Arachnodactyly, Slender build, Motor s... |
OMIM:617600 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... |
OMIM:169550 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Enamel hypoplasia, Fl... |
OMIM:270200 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Inguinal hernia, Corneal opacity, Pulmonary arterial hypertension, Umbilica... |
OMIM:607015 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Hurler Syndrome |
|
Diaphyseal undertubulation, Aortic regurgitation, Inguinal hernia, Short clavicles, Cardiomyopath... |
OMIM:607014 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Hernia, Cardiomyopathy |
ORPHA:93476 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Pes cavus, Sandal gap, Inguinal hernia, Finger syndactyly, Broad ... |
ORPHA:3447 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Coloboma, Corneal opacity, Cataract |
OMIM:613153 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... |
ORPHA:957 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... |
OMIM:601356 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... |
ORPHA:96334 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1765 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short femur, Short tibia, Tricuspid regurgitation |
OMIM:620306 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Gm1 Gangliosidosis |
|
Optic atrophy, Congestive heart failure, Abnormal metaphysis morphology, Abnormal diaphysis morph... |
ORPHA:354 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho... |
ORPHA:536471 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract, Adducted thumb, Hernia, Talipes eq... |
OMIM:616603 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Ventricular fibrillation, Obesity, Atrioventricular block, Arrhythmia, Tac... |
ORPHA:26793 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Foot polydactyly, Broad thumb, Abnormality of thumb phalanx, Optic disc colobo... |
ORPHA:1553 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Midline cen... |
OMIM:603671 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... |
ORPHA:293603 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Retinal detachment, Finger syndactyly, Abnormal dental enamel morpholog... |
ORPHA:464 |
| 2Q23.1 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Hyperactivity, Polyphagia, Short palm, Motor stereoty... |
ORPHA:228402 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Coloboma, Corneal opacity, Conjunctival hyperemia, Lipomas of eye... |
ORPHA:2399 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperactivity, 2-3 toe syndactyly, Motor ste... |
ORPHA:3306 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Pes cavus, Arachnodactyly, Syndactyly, Motor stereotypy, Clinodactyly |
OMIM:619092 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Coloboma, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly, ... |
OMIM:615877 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... |
ORPHA:137675 |
| Microphthalmia/Coloboma 12 |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... |
OMIM:120200 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Amelia, Omphalocele, Syndactyly,... |
OMIM:601163 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Slender long bone, Corneal stromal edema, Tibial bowing, Osteolytic defects of the d... |
OMIM:601812 |
| Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Knee flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hy... |
OMIM:310200 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic iliac wing, Sinus tachycardia, Cardiomyopathy, Corneal opacity, Flared iliac wing, Um... |
OMIM:253200 |
| Posterior Polymorphous Corneal Dystrophy |
|
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... |
ORPHA:98973 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Corneal opacity |
ORPHA:281090 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Ename... |
OMIM:212780 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
2-3 toe cutaneous syndactyly, Hyperactivity, Depression, Failure to thrive, Decreased patellar re... |
OMIM:620242 |
| ERI1-related disease |
|
Limited elbow extension, Clinodactyly of the 5th finger, Inguinal hernia, Dislocated radial head,... |
OMIM:608739 |
| Coronary Arterial Fistula |
|
Congestive heart failure, Pedal edema, Tachycardia, Angina pectoris, Elevated jugular venous pres... |
ORPHA:2041 |
| Cocaine Intoxication |
|
Ischemic stroke, Agitation, Mydriasis, Prolonged QT interval, Supraventricular arrhythmia, Hypert... |
ORPHA:90068 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... |
ORPHA:239 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... |
OMIM:604229 |
| Acro-Renal-Ocular Syndrome |
|
Sandal gap, Short humerus, Hypoplasia of the ulna, Cataract, Preaxial hand polydactyly, Toe synda... |
ORPHA:959 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... |
ORPHA:85451 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Clinodactyly of the 5th finger, Inguinal hernia, Ectrodactyly, Micrognathia, Syndact... |
ORPHA:397590 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... |
ORPHA:563 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Inguinal hernia, Hyperextensibility of the finger joints, Single tran... |
OMIM:305400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Pedal edema, Bradycardia, Atrial fibrillation, Decreased/absent ankle r... |
ORPHA:330001 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Inguinal hernia, Syndactyly, Brachydactyly, G... |
OMIM:619451 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Flat capital femoral epiphysis, Aortic regurgitation, Claw hand deformity, Shoulder ... |
OMIM:252605 |
| Fabry Disease |
|
Optic atrophy, Congestive heart failure, Anorexia, Abnormal femur morphology, Cornea verticillata... |
ORPHA:324 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Clinodactyly of the ... |
ORPHA:1001 |
| Rubinstein-Taybi Syndrome |
|
Irritability, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal distal phalanx morpholo... |
ORPHA:783 |
| Gitelman Syndrome |
|
Polydipsia, Prolonged QT interval, Palpitations, Hypotension, Failure to thrive, Ventricular tach... |
OMIM:263800 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Depression, Corneal opacity, Cataract, Optic disc pallor |
ORPHA:309288 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Optic atrophy, Finger syndactyly, Cerebral ischemia, Foot polydactyly, Failure to thrive, Hand po... |
ORPHA:60040 |
| 19P13.12 Microdeletion Syndrome |
|
Deep plantar creases, Clinodactyly of the 5th finger, Aortic regurgitation, Sandal gap, Deep palm... |
ORPHA:254346 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... |
OMIM:263520 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Abnormal foot morphology, Finger syndactyly, Cataract, Toe syndactyly |
ORPHA:64754 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Prolonged QT interval, Dysphagia, Arrhythmia, Abnormal EKG |
ORPHA:480864 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Astigmatism, Aortic regurgitation, Retinal detachment, Tapered finger,... |
ORPHA:464311 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Astigmatism, Clinodactyly of the 5th finger, Aortic regurgitation, Acromesomelia, Hy... |
ORPHA:464306 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Sandal gap, Camptodactyly of toe, Obesity, Sclerocornea, Cataract, Toe syndactyly, Iris... |
ORPHA:251038 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Abnormal temper tantrums, Genu valgum, Reduced left ventricular ejection fraction,... |
ORPHA:581 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Dilated cardiomyopathy, Prolonged QT interval, Repetitive compulsive behavior |
ORPHA:66634 |
| Granular Corneal Dystrophy Type Ii |
|
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... |
ORPHA:98963 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pes cavus, Limited knee flexion/extension, Limited elbow movement, Distal upper limb muscle weakn... |
ORPHA:268 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Micr... |
ORPHA:284160 |
| Epithelial Recurrent Erosion Dystrophy |
|
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... |
ORPHA:293381 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Flexion contracture, Clinodactyly, Syndactyly |
OMIM:619091 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Abnormal dental enamel morphology, C... |
ORPHA:582 |
| Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Astigmatism, Proximal placement of thumb, Finger syndactyly, Brachydactyly, H... |
OMIM:619762 |
| Van Den Ende-Gupta Syndrome |
|
Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarp... |
OMIM:600920 |
| Periventricular Nodular Heterotopia 1 |
|
Short finger, Clinodactyly, Cerebral hemorrhage, Syndactyly |
OMIM:300049 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... |
OMIM:602111 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arrest, Hypertrophic ca... |
OMIM:616878 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Filippi Syndrome |
|
Optic atrophy, Finger clinodactyly, Single transverse palmar crease, Decreased body weight, 2-4 t... |
OMIM:272440 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... |
ORPHA:98974 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Failure to thrive, Atrophic scars, Syndactyly |
OMIM:226700 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Corneal opacity, Broad thumb, Abnormality of retinal pigmentation, Cataract, Broad... |
ORPHA:585 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Failure to thrive, Absent thumb, Hyperactivity |
OMIM:619239 |
| Cystinosis |
|
Polydipsia, Corneal opacity, Portal hypertension, Failure to thrive, Motor stereotypy |
ORPHA:213 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Sac... |
ORPHA:435938 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Craniofrontonasal Dysplasia |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, C... |
ORPHA:1520 |
| Pfeiffer Syndrome Type 1 |
|
Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short palm, Hallux... |
ORPHA:93258 |
| Graves Disease |
|
Congestive heart failure, Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Farber Disease |
|
Short finger, Abnormality of the hand, Abnormal foot morphology, Abnormality of the wrist, Macula... |
ORPHA:333 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Broad toe... |
OMIM:612582 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Inguinal hernia, Corneal opacity, Dysphagia, Umbilical hernia, Cataract |
ORPHA:93399 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Prolonged QT interval, Clinodactyly of the 5th finger, Inguinal ... |
ORPHA:373 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand |
OMIM:603543 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... |
ORPHA:251014 |
| Ethylene Glycol Poisoning |
|
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... |
ORPHA:31826 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Deviation of the 5th toe, Congenital diaphragmatic hernia, Broad 2nd toe, Bro... |
ORPHA:1692 |
| Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Ischemic stroke, Abnormal femoral head morphology, Hypertension, Transi... |
ORPHA:1830 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microretrognathi... |
ORPHA:2994 |
| Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Keloids, Aplastic c... |
ORPHA:198 |
| Mucopolysaccharidosis Type 1 |
|
Optic atrophy, Congestive heart failure, Abnormal metaphysis morphology, Abnormal hip bone morpho... |
ORPHA:579 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Microcornea, Decreased body weight, Brachydactyly, Failure to thr... |
ORPHA:313781 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... |
OMIM:142900 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Retinal dysplasia, Retinal detachment, Microcornea, Corneal opacity, Cataract, Met... |
ORPHA:899 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Autoamputation of digits, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... |
ORPHA:466650 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Atopic Keratoconjunctivitis |
|
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... |
ORPHA:163934 |
| Wilson Disease |
|
Abnormality of the hand, Depression, Kayser-Fleischer ring, Increased body weight, Failure to thr... |
ORPHA:905 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Mucopolysaccharidosis Type 7 |
|
Diaphyseal undertubulation, Abnormal hip bone morphology, Inguinal hernia, Epiphyseal stippling, ... |
ORPHA:584 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Syndactyly, Unilateral brachyd... |
OMIM:173800 |
| Granular Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... |
ORPHA:98962 |
| Teebi Hypertelorism Syndrome 2 |
|
Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly |
OMIM:613576 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... |
OMIM:255160 |
| Loeffler Endocarditis |
|
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... |
ORPHA:75566 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Decreased body weight, Antecubital pterygium, Syndactyly, Elbow c... |
OMIM:616489 |
| Mucolipidosis Type Iv |
|
Genu recurvatum, Abnormality of retinal pigmentation, Corneal opacity, Palmoplantar keratoderma |
ORPHA:578 |
| Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Opacification of the corneal stroma, Palmar hyperlinearity |
OMIM:308100 |
| Seckel Syndrome 1 |
|
Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Hypera... |
OMIM:210600 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormal temper tantrums, Inguinal hernia, Flexion contracture of digit, Hyperacti... |
ORPHA:580 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Pes cavus, Clinodactyly of the 5th finger, Cubitus valgus, Sandal gap, Small hand, Hyperactivity,... |
ORPHA:85293 |
| Microphthalmia/Coloboma 9 |
|
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Sclerocorn... |
OMIM:615145 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Desbuquois Dysplasia 2 |
|
Advanced ossification of carpal bones, Monkey wrench femoral neck, Short clavicles, Single transv... |
OMIM:615777 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Talipes, Hyperactivity, Decreased body weight, Obesity, Dysphagia, Bundle branch block, Cataract,... |
ORPHA:589821 |
| Microphthalmia, Lenz Type |
|
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Microcornea, Cat... |
ORPHA:568 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Eem Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Ectrodactyly |
ORPHA:1897 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Failure to thrive, Dilated cardiomyopathy, Pi... |
ORPHA:71212 |
| Hurler Syndrome |
|
Abnormal diaphysis morphology, Abnormality of the elbow, Angina pectoris, Depression, Hypertensio... |
ORPHA:93473 |
| Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Genu valgum, Large iliac wing, Cardiomyopathy, Corneal opacity, Pro... |
OMIM:253220 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hernia, Clinodactyly |
ORPHA:251046 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Single transverse palmar crease, Supravalvar pulmonary stenosis, Remnants of... |
OMIM:620185 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... |
OMIM:228520 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Cubitus valgus, Talipes equinovarus, Single transverse palmar crease, Camp... |
OMIM:214110 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Self-injurious behavior, Toe syndactyly |
ORPHA:261272 |
| Zellweger Syndrome |
|
Optic atrophy, Epiphyseal stippling, Corneal opacity, Failure to thrive, Micrognathia, Posterior ... |
ORPHA:912 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Abnormal forearm bone morphology, Splayed toes, Hypermobilit... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Abnormal forearm bone morphology, Splayed toes, Hypermobilit... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Hypertension, Abnormal forearm bone morphology, Splayed toes, Hypermobilit... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Hypertension, Abnormal forearm bone morphology, Splayed toes, Hypermobilit... |
ORPHA:881 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Radial deviation of finger, Astigmatism, Hypertension, P... |
OMIM:209900 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... |
ORPHA:98969 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Self-injurious behavior, Corneal opacity |
OMIM:620469 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hernia, Syndactyly |
OMIM:602501 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Omphal... |
OMIM:617895 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Left ventricular systolic dysfunction, Ventricular bigeminy, Corneal opacity, Tricuspid regurgita... |
OMIM:620519 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palmoplantar keratoderma, Paroxysmal ... |
OMIM:601214 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Finger syndact... |
ORPHA:958 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Coloboma, Abnormal toe morphology, Abnormal finger morphology |
OMIM:163200 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Broad hallux, Short 5th finger, Or... |
OMIM:600987 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Obesity, Syndactyly, Pigmentary retinopathy |
OMIM:605231 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Hyperactivity, Tricuspid... |
ORPHA:261211 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Broad thumb, Hypoplastic vertebral bodies, Broad hallux, Retinal degeneration |
OMIM:272200 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Radial bowing, Lim... |
OMIM:605432 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Micrognathia, Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Micrognathia, Corneal opacity, Conjunctivitis |
OMIM:602562 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Talipes, Abnormal metacarpal morphology, Finger syndactyly, Absent t... |
ORPHA:974 |
| Cousin Syndrome |
|
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... |
OMIM:260660 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Congestive heart failure, Aortic regurgitation, Corneal opacity, Flexion contracture, Umbilical h... |
ORPHA:423461 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Short palm, Short femoral neck, Opacification of the corneal stroma, Pes planus |
OMIM:184095 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Attention deficit hyperactivity disorder, Syndactyly, Abnormal emotion |
ORPHA:1942 |
| Familial Dysautonomia |
|
Optic atrophy, Orthostatic hypotension, Corneal erosion, Hypertension, Corneal opacity, Heterochr... |
ORPHA:1764 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Developmental glaucoma, Inguinal hernia, Single transverse palma... |
ORPHA:2409 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Distal lower limb muscle weakness, Syndactyly |
OMIM:615284 |
| Oculodentodigital Dysplasia |
|
Umbilical hernia, Clinodactyly, Optic atrophy, Abnormality iris morphology, Cataract, Preaxial ha... |
ORPHA:2710 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Hypertension, Recurrent hand f... |
ORPHA:449291 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detach... |
OMIM:612109 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Abnormal dental enamel morphology, Corneal opacity, Micrognathia, Short foot, Small ... |
ORPHA:2323 |
| Gm1-Gangliosidosis, Type Iii |
|
Pes cavus, Opacification of the corneal stroma, Hypoplastic acetabulae, Flared iliac wing |
OMIM:230650 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Sclerocornea, Umbilical he... |
ORPHA:2095 |
| Pfeiffer Syndrome |
|
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... |
OMIM:101600 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract, Short foot, Sm... |
ORPHA:2714 |
| Dermochondrocorneal Dystrophy |
|
Abnormality of the hand, Corneal dystrophy, Subepithelial corneal opacities, Irregular tarsal oss... |
OMIM:221800 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... |
ORPHA:98957 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
| De Barsy Syndrome |
|
Inguinal hernia, Corneal opacity, Coxa vara, Congenital hip dislocation, Failure to thrive, Lipod... |
ORPHA:2962 |
| Alpha-Mannosidosis, Infantile Form |
|
Talipes valgus, Genu valgum, Astigmatism, Aortic regurgitation, Depression, Bilateral coxa valga,... |
ORPHA:309282 |
| Sialidosis Type 1 |
|
Cataract, Hernia, Corneal opacity |
ORPHA:812 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Retinal a... |
OMIM:236670 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Micrognathia, Sclerocornea, Syndactyly, Absent palmar crease, Ca... |
OMIM:614230 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
| Mosaic Trisomy 8 |
|
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Corneal opacity, Campto... |
ORPHA:96061 |
| Ritscher-Schinzel Syndrome 1 |
|
Coloboma, Missing ribs, Pulmonic stenosis, Aortic valve stenosis, Micrognathia, Syndactyly |
OMIM:220210 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Postaxial po... |
OMIM:615503 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pes cavus, Overlapping fingers, Inguinal hernia, Finger syndactyly, Broad distal phalanx of the t... |
ORPHA:464738 |
| Atrial Standstill 2 |
|
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial car... |
OMIM:615745 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long bones, Microme... |
OMIM:614091 |
| Hamamy Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Short 2nd finger, Neck pterygia, Enamel hypoplas... |
OMIM:611174 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Micrognathia, Syndactyly,... |
OMIM:180860 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Genu valgum, Inguinal hernia, Pointed proximal second through fifth metacarpals, ... |
OMIM:253000 |
| Larsen Syndrome |
|
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Ta... |
OMIM:150250 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Macular degeneration, Syndactyly |
ORPHA:404451 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Ventricular fibrillation, Obesity, Weight loss, Palpitations, Shortened PR... |
ORPHA:79102 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han... |
OMIM:252100 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Clinodactyly, Syndactyly, Small hand |
ORPHA:1445 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Cachexia, Microcornea, Congenital hip dislocat... |
ORPHA:217346 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd... |
OMIM:265000 |
| Mucolipidosis Ii Alpha/Beta |
|
Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalanges of the hand, He... |
OMIM:252500 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Short 4th metacarpal, Developmental glaucoma, Prolonged QT interval, Short metatarsal, Cubitus va... |
ORPHA:1772 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... |
OMIM:609638 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Hypertension, Cardio... |
ORPHA:3472 |
| Fg Syndrome Type 1 |
|
Abnormal thumb morphology, Clinodactyly of the 2nd finger, Inguinal hernia, Finger syndactyly, Op... |
ORPHA:93932 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Arthrogrypos... |
OMIM:236500 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Micrognathia, Brachydactyly |
ORPHA:2145 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal thumb morphology, Inguinal hernia, Corneal opacity, Arachnodactyly, Iris hypopigmentatio... |
ORPHA:2719 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hypoplastic iliac wing, Coxa vara, Hypoplasia of the capital femoral epiphys... |
OMIM:313400 |
| Friedreich Ataxia |
|
Optic atrophy, Congestive heart failure, Pes cavus, Areflexia of lower limbs, Hypertrophic cardio... |
OMIM:229300 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... |
OMIM:308050 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Single transverse palmar crease, Tapered finger, Small thenar eminence, Camptodact... |
OMIM:619148 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Deep plantar creases, Deep palmar crease, Elbow dislocation, Corneal opacity,... |
ORPHA:99776 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Self-injurious behavior, Opacification of the corneal stroma, Depression |
OMIM:601853 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Failure to thrive, Ventricular fibrillation, Scleroc... |
OMIM:300952 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Pes cavus, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Toe syndactyly, Trunc... |
ORPHA:3224 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Genu valgum, Epiphyseal dysplasia, Failure to thrive, Opacificati... |
ORPHA:583 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Abnormal foot morphology, Camptodactyly, Arthrogryposis multiplex congenita,... |
OMIM:617822 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... |
OMIM:164745 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... |
ORPHA:3103 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ... |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... |
OMIM:208500 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Ventral h... |
ORPHA:2369 |
| Cohen Syndrome |
|
Optic atrophy, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal ... |
ORPHA:193 |
| Norrie Disease |
|
Optic atrophy, Irritability, Aplasia/Hypoplasia of the lens, Retinal detachment, Cachexia, Cornea... |
ORPHA:649 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Abnormal dental enamel morphology, Corneal opacity, Camp... |
ORPHA:2908 |
| Tarp Syndrome |
|
Optic atrophy, Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transvers... |
OMIM:311900 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Corneal opacity, Short foot, Retinal coloboma, S... |
ORPHA:3474 |
| Neuroocular Syndrome |
|
Clinodactyly of the 5th finger, Deep palmar crease, Genu recurvatum, Hyperextensibility of the fi... |
OMIM:619539 |
| Fucosidosis |
|
Lipoatrophy, Failure to thrive, Corneal opacity |
ORPHA:349 |
| Legius Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Hyperactivity, Cataract, Pulmonic stenosis, Paroxysm... |
ORPHA:137605 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Mydriasis, Aggressive behavior, Oral-pharyngeal dysphagia, Skewfoot, Emotional lability... |
ORPHA:2131 |
| 3C Syndrome |
|
Optic atrophy, Abnormal hip bone morphology, Inguinal hernia, Finger syndactyly, Missing ribs, Ao... |
ORPHA:7 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Corneal opacity, Pulmonic stenosis... |
ORPHA:488632 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Dysp... |
ORPHA:85443 |
| Congenital Disorder Of Deglycosylation 1 |
|
Oral-pharyngeal dysphagia, Corneal ulceration, Single transverse palmar crease, Decreased body we... |
OMIM:615273 |
| Stromme Syndrome |
|
Preaxial polydactyly, Optic nerve hypoplasia, Microcornea, Micrognathia, Sclerocornea, Cataract, ... |
OMIM:243605 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Retinal detachment, Contracture of the proxi... |
OMIM:300166 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Mesomelia, Talipes calcaneovalgus, ... |
ORPHA:818 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Developmental glaucoma, Abnormal metaca... |
ORPHA:90652 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... |
OMIM:614643 |
| Osteogenesis Imperfecta |
|
Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radial head, Femoral bowing, ... |
ORPHA:666 |
| Scheie Syndrome |
|
Corneal opacity, Aortic regurgitation |
ORPHA:93474 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... |
ORPHA:158687 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Single transverse palmar crease, Pi... |
OMIM:309801 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... |
ORPHA:860 |
| Schimke Immunoosseous Dysplasia |
|
Lateral displacement of the femoral head, Astigmatism, Hypertension, Transient ischemic attack, C... |
OMIM:242900 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Proximal placement of thumb, Decreased body weight, Syndactyly, Microretrognathia, Brachydactyly,... |
OMIM:615789 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... |
OMIM:106210 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... |
OMIM:277170 |
| Neurofibromatosis Type 1 |
|
Genu valgum, Abnormal hip bone morphology, Slender long bone, Hypertension, Corneal opacity, Hete... |
ORPHA:636 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Camptodactyly, Camptodactyly of finger,... |
OMIM:300963 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... |
OMIM:612651 |
| Mend Syndrome |
|
Polydactyly, Anterior polar cataract, Hyperactivity, 2-3 toe syndactyly, Aortic valve stenosis, F... |
OMIM:300960 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... |
ORPHA:246 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, U... |
OMIM:616028 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Rocker bottom foot, Cubitus valgus, Talipes equinovarus, Epiphyseal stippling, Single transverse ... |
OMIM:214100 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux ... |
ORPHA:93259 |
| Blepharonasofacial Malformation Syndrome |
|
Optic atrophy, Finger syndactyly, Inguinal hernia |
ORPHA:1252 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... |
ORPHA:1827 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Optic atrophy, Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly,... |
OMIM:614800 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... |
OMIM:211350 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Acromicria, Genu valgum, Radial deviation of finger, Hip dysplasia, Poly... |
OMIM:176270 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Pulmonic st... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Pulmonic st... |
ORPHA:353277 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, R... |
OMIM:614701 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Diaphyseal undertubulation, Inguinal hernia, Hypertension, Cardiomyopathy, Corneal... |
ORPHA:217085 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Corneal opacity, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Cardiomyopathy, Short palm, Micrognathia, Syndactyly, Brachydactyly,... |
OMIM:217980 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Corneal opacity, Umbilical hernia, Abnormal epiphysis morphology, Patellar dislocation, Hip dislo... |
ORPHA:534 |
| Lacrimoauriculodentodigital Syndrome |
|
Recurrent corneal erosions, Corneal neovascularization, Limbal stem cell deficiency, Absent thumb... |
ORPHA:2363 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Mend Syndrome |
|
Hyperactivity, 2-3 toe syndactyly, Aortic valve stenosis, Failure to thrive, Hand polydactyly, Lo... |
ORPHA:401973 |
| Opitz-Kaveggia Syndrome |
|
Radial deviation of finger, Inguinal hernia, Single transverse palmar crease, Prominent fingertip... |
OMIM:305450 |
| Bohring-Opitz Syndrome |
|
Deep plantar creases, Deep palmar crease, Dislocated radial head, Mesomelic/rhizomelic limb short... |
OMIM:605039 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Diaphyseal undertubulation, Inguinal hernia, Hypertension, Cardiomyopathy, Corneal... |
ORPHA:217093 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Astigmatism, Inguinal hernia, Retinal coloboma, Pulmonic stenosis, Umbilical hernia, Obesity, Mic... |
OMIM:620654 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... |
OMIM:263650 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Corneal opacity, Omphalocele, Mi... |
ORPHA:2059 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Retinal dysplasia, Abnormal dental enamel morphology, Corneal op... |
ORPHA:2556 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers |
OMIM:618316 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Cubitus valgus, Aortic regurgitation, Talipes equinovarus, ... |
OMIM:614866 |
| Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... |
ORPHA:3093 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Hand polydactyly, Broad hallux, Syndactyly |
OMIM:239710 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Conjunctival hyperemia, Cutaneous syndactyly, Keloids |
ORPHA:2890 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Corneal opacity, Failure to thrive, Aplasia of the ... |
ORPHA:364577 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Absent sternal ossification, Cardiomyopathy, Flat ace... |
OMIM:216340 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Deep plantar creases, Short hallux, Finger syndactyly, Hypertroph... |
ORPHA:1517 |
| Filippi Syndrome |
|
Optic atrophy, Clinodactyly of the 5th toe, Bilateral single transverse palmar creases, Clinodact... |
ORPHA:3255 |
| Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Remnants ... |
OMIM:609049 |
| Stolerman Neurodevelopmental Syndrome |
|
Hyperactivity, Broad palm, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618505 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad distal phalanx of finger, Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve steno... |
ORPHA:353281 |
| Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Clinodactyly, Hypertension, Syndactyly |
ORPHA:2169 |
| Peters Plus Syndrome |
|
Optic atrophy, Rhizomelia, Clinodactyly of the 5th finger, Inguinal hernia, Microcornea, Corneal ... |
ORPHA:709 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Y-shaped metatarsals, Oli... |
OMIM:146510 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Split foot, Foot polydactyly, Camp... |
ORPHA:2008 |
| Roberts-Sc Phocomelia Syndrome |
|
Radial deviation of finger, Corneal opacity, Wrist flexion contracture, Short humerus, Absent thu... |
OMIM:268300 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Inguinal hernia, Fing... |
ORPHA:1786 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ... |
ORPHA:1005 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Corneal opacity, Limitation of movement at ankles, Aortic valve stenosis, Coxa valg... |
ORPHA:740 |
| Triploidy |
|
Finger syndactyly, Omphalocele, Micrognathia, Cataract, Iris coloboma |
ORPHA:3376 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Micrognathia |
ORPHA:1514 |
| Meckel Syndrome 14 |
|
Talipes, Postaxial hand polydactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial... |
OMIM:619879 |
| Jacobsen Syndrome |
|
Iris coloboma, Talipes, Inguinal hernia, Finger syndactyly, Microcornea, Missing ribs, Cataract, ... |
ORPHA:2308 |
| Encephalocraniocutaneous Lipomatosis |
|
Lipoma, Subcutaneous lipoma, Hypoplasia of the iris, Sclerocornea, Multiple central nervous syste... |
OMIM:613001 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Congenital diaphragmatic hernia, Abnormal foot morphology, Hypoplastic pubic ramus... |
ORPHA:280 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc... |
ORPHA:70591 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Slender long bone, Inguinal hernia, Single transverse palmar crease, Fail... |
ORPHA:444072 |
| X Small Rings |
|
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... |
ORPHA:96201 |
| Williams Syndrome |
|
Hypertension, Corneal opacity, Cerebral ischemia, Pulmonic stenosis, Umbilical hernia, Adducted t... |
ORPHA:904 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Iris coloboma |
ORPHA:66629 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Lipodystrophy, Multiple ... |
ORPHA:2396 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Pes cavus, Hiatus hernia, Camptodactyly, Slender finger, Hypoplasia of the iris, H... |
OMIM:251300 |
| Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phalanx of hallux... |
OMIM:236680 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Failure to thrive, Sclerocornea, Syndactyly, Cataract, Small for gestational age, Op... |
OMIM:619869 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
| Grange Syndrome |
|
Decreased body weight, Renovascular hypertension, Syndactyly, Brachydactyly, Finger clinodactyly |
OMIM:602531 |
| Dextrocardia |
|
T-wave inversion, Abnormal foot morphology, Abnormal EKG, Congenital hip dislocation |
ORPHA:1666 |
| Apert Syndrome |
|
Optic atrophy, Corneal erosion, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypertension,... |
ORPHA:87 |
| Lathosterolosis |
|
Talipes, Microcornea, Postaxial hand polydactyly, Failure to thrive, Micrognathia, Cataract, Toe ... |
ORPHA:46059 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Umb... |
OMIM:304120 |
| Cockayne Syndrome B |
|
Optic atrophy, Square pelvis bone, Severe failure to thrive, Hypoplastic iliac wing, Microcornea,... |
OMIM:133540 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Cardiac Diverticulum |
|
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... |
ORPHA:1686 |
| Autosomal Dominant Cutis Laxa |
|
Congestive heart failure, Aortic regurgitation, Inguinal hernia, Genu recurvatum, Corneal opacity... |
ORPHA:90348 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... |
OMIM:134780 |
| Pfeiffer Syndrome Type 3 |
|
Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux phalanx, Toe syndactyly,... |
ORPHA:93260 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly |
OMIM:618087 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly |
ORPHA:73246 |
| Cerebrofacioarticular Syndrome |
|
Caudal appendage, Camptodactyly, Pulmonic stenosis, Micrognathia, Syndactyly, Self-injurious beha... |
ORPHA:314679 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Pseudo-Torch Syndrome 1 |
|
Failure to thrive, Microretrognathia, Umbilical hernia, Cataract, Opacification of the corneal st... |
OMIM:251290 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Syndactyly, Umbilical hernia |
OMIM:614520 |
| Kbg Syndrome |
|
Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly |
ORPHA:2332 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Umbilical hernia, Cataract, Coloboma, Absent tibia, Retinal coloboma, Pul... |
OMIM:214800 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Camptodactyly of fin... |
ORPHA:1323 |
| Cockayne Syndrome A |
|
Optic atrophy, Square pelvis bone, Hypoplastic iliac wing, Retinal atrophy, Hypertension, Hypopla... |
OMIM:216400 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Finger syndactyly, Long palm, Hemiatrophy, Metatarsus adductus, Arachnodactyly, ... |
ORPHA:2215 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Micrognathia, Attention deficit hyper... |
ORPHA:495875 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, 11 pairs of ribs, Iris coloboma |
ORPHA:77298 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Hyperactivity, Dislocated radial head, Hypoplastic iliac wing, Pr... |
OMIM:180849 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anorexia, Finger syndactyly, Cachexia, Abnormality of retinal pigmentation, Genu varum |
ORPHA:1969 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Hyperactivity, Single transverse palmar crease, ... |
OMIM:223370 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Failu... |
ORPHA:2754 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly |
OMIM:119580 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Finger syndactyly, Abnormality of the lower limb, Abnormality of the upper li... |
ORPHA:1556 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Corneal opacity |
ORPHA:28378 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... |
OMIM:181270 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:2475 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Poland Syndrome |
|
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Short ribs, Aplasia/Hypo... |
ORPHA:2911 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
| Rhombencephalosynapsis |
|
Polydactyly, Finger syndactyly, Septo-optic dysplasia, Short phalanx of finger, Microretrognathia... |
ORPHA:59315 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Corne... |
OMIM:608670 |
| Sclerosteosis 1 |
|
Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Papilledema, Cortical... |
OMIM:269500 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia |
OMIM:149000 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... |
OMIM:114290 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... |
ORPHA:140 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Microcornea, Umbilical hernia, Opacification of the corneal stroma, Anterior cha... |
OMIM:601499 |
| Tangier Disease |
|
Opacification of the corneal stroma, Myocardial infarction |
OMIM:205400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Corneal opacity, Pulmonic stenosis, Hypoplastic vertebral bodies, Short humerus, Lon... |
ORPHA:3455 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Finger syndactyly, Broad distal phalanx ... |
OMIM:101200 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, Lower limb asymmetry, Failure t... |
ORPHA:96182 |
| Oculoectodermal Syndrome |
|
Astigmatism, Hyperactivity, Microcornea, Transient ischemic attack, Lower limb asymmetry, Hypertr... |
OMIM:600268 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Micrognathia, Short distal phalanx of finger, Toe syndactyly, Hypoplastic scap... |
ORPHA:1512 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Acrocallosal Syndrome |
|
Optic atrophy, Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Coloboma, Post... |
OMIM:200990 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... |
OMIM:148050 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity, Omphalocele, Camptodactyly of finger, Umbilical hernia, Toe syn... |
ORPHA:920 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Atrophic scars, Corneal opacity, Failure to thrive, Enamel hypoplasia, Palmoplantar ker... |
ORPHA:79396 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Radial deviation of finger, Sandal gap, Inguinal hernia, Hiatus hernia, Decreased ... |
OMIM:618164 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short 4th metacarpal, Micrognathia, Small hand |
ORPHA:1787 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Aortic valv... |
OMIM:272950 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Aortic regurgitation, Abnormality of the upper limb, Corneal opac... |
ORPHA:1052 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Micrognathia, Mesom... |
OMIM:616894 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... |
ORPHA:989 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... |
ORPHA:503 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Axillary pterygium, Abnormal foot morphology, Multiple pterygia, Inguinal he... |
ORPHA:2990 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Pes cavus, Cachexia, Spontaneous, recurrent epistaxis, Corneal opacity,... |
ORPHA:2072 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Midclavicular aplasia, Aniridia, Short ribs, Short metacarpal, S... |
OMIM:305600 |
| Neu-Laxova Syndrome 2 |
|
Rocker bottom foot, Finger syndactyly, Micrognathia, Cataract, Toe syndactyly |
OMIM:616038 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t... |
OMIM:607932 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Congenital hip disloc... |
OMIM:263750 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Symphalangism of the thumb, Syndactyly, Small for gestational age... |
ORPHA:1439 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Diaphyseal undertubulation, Inguinal hernia, Flared metaphysis, Hyperextensibility of the finger ... |
OMIM:151050 |
| Meckel Syndrome |
|
Optic atrophy, Talipes, Microcornea, Postaxial hand polydactyly, Bowing of the long bones, Catara... |
ORPHA:564 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Saethre-Chotzen Syndrome |
|
Optic atrophy, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha... |
ORPHA:794 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Failure... |
OMIM:619297 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the hand, Astigmatism, Corneal erosion, Inguinal hernia, Abnormal dental enamel mo... |
ORPHA:2273 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormal emotion, Abnormal hip bone morphology, Nail-biting, Corneal ulceration, Hyperactivity, C... |
ORPHA:642 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Small for gestational age |
OMIM:215250 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... |
OMIM:175780 |
| Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of the upper limb, Umbilical hernia, Hip dislocation, Hypo... |
ORPHA:84 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Trisomy 20P |
|
Abnormal foot morphology, Talipes, Abnormal hip bone morphology, Inguinal hernia, Finger syndacty... |
ORPHA:261318 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Syndactyly |
OMIM:616430 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Failure to thrive, Aplasia... |
ORPHA:2753 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope |
ORPHA:230 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Keratoconjunctiv... |
ORPHA:2907 |
| Tarp Syndrome |
|
Optic atrophy, Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial ... |
ORPHA:2886 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Sandal gap |
ORPHA:178303 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1507 |
| Noonan Syndrome |
|
Clinodactyly of the 5th finger, Hypertrophic cardiomyopathy, Micrognathia, Arrhythmia, Brachydact... |
ORPHA:648 |
| Proboscis Lateralis |
|
Cyclopia, Optic nerve hypoplasia, Microcornea, Corneal opacity, Chorioretinal coloboma, Optic dis... |
ORPHA:141099 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Coloboma, Vertebral hypoplasia, Missing ribs, Optic nerve aplasia, Sclero... |
OMIM:206900 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Clinodactyly of the 5th finger, Coloboma, Micrognathia, Syndactyly, Hip dysplasia,... |
OMIM:616975 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... |
ORPHA:980 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Inguinal hernia, Broad toe, Triphalan... |
OMIM:218330 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Inguinal hernia, Finger syndactyly, Camptodactyly of finger, Umb... |
ORPHA:2311 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morp... |
ORPHA:2750 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pulmon... |
OMIM:261540 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Inguinal hernia, Short foot, Camptodactyly, Metatarsus adductus, ... |
OMIM:227330 |
| African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Irritability, Iritis, Aggressive behavior, Pericarditis, P... |
ORPHA:3385 |
| Eec Syndrome |
|
Proximal placement of thumb, Corneal erosion, Aplasia/Hypoplasia of the thumb, Finger syndactyly,... |
ORPHA:1896 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,... |
ORPHA:1587 |
| Townes-Brocks Syndrome 1 |
|
Clinodactyly of the 5th toe, Talipes, Short metatarsal, Triphalangeal thumb, Pseudoepiphyses of s... |
OMIM:107480 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Sandal gap, Emotional lability, Optic nerve hypoplasia, Polyphagia, Fi... |
OMIM:620330 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Bilateral single transverse palmar creases, Finger syndactyly, Abnormal dental enamel morphology,... |
ORPHA:3253 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Melena, Keratoconjunctivitis, Cataract, Opacification of the corneal ... |
OMIM:158310 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Radial deviation of finger, Hypertension, Short 2nd toe, Enamel hypoplasia, Syndacty... |
OMIM:311200 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Finger syndactyly, Split hand, Micrognathia, Toe syndactyly |
ORPHA:1300 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, 2-3 ... |
OMIM:620025 |
| Robinow Syndrome |
|
Mesomelic arm shortening, Missing ribs, Pulmonic stenosis, Micrognathia, Mesomelia, Bifid distal ... |
ORPHA:97360 |
| Fryns Syndrome |
|
Rocker bottom foot, Large for gestational age, Proximal placement of thumb, Single transverse pal... |
OMIM:229850 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... |
ORPHA:2473 |
| Mosaic Trisomy 16 |
|
Single transverse palmar crease, Short forearm, Short femoral neck, Syndactyly, Small for gestati... |
ORPHA:1708 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Proteus Syndrome |
|
Macrodactyly, Lipoma, Cachexia, Abnormal finger morphology, Upper limb asymmetry, Central heteroc... |
ORPHA:744 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Cubitus valgus, Syndactyly, Congenital hip dislocation |
OMIM:104350 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Finger syndactyly, Omphalocele, Aplasia/Hypoplasia of the radius... |
ORPHA:887 |
| Degcags Syndrome |
|
Polydactyly, Genu valgum, Oral-pharyngeal dysphagia, Talipes equinovarus, Hiatus hernia, Pulmonar... |
OMIM:619488 |
| Meckel Syndrome, Type 1 |
|
Radial deviation of finger, Talipes, Postaxial hand polydactyly, Bowing of the long bones, Omphal... |
OMIM:249000 |
| Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Dysphagia, Remnants of the hyaloid vascular sy... |
ORPHA:637 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Radial deviation of finger, Pterygium, Finger syndactyly, Calcaneovalgus defo... |
OMIM:256520 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Corneal opacity, Cutaneous finger syndactyly, Aplasia/Hypoplasia... |
OMIM:219000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Inguinal hernia, Finger syndactyl... |
ORPHA:2658 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... |
OMIM:101400 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Inguinal hernia, Short ribs, Hypertension, Postaxial hand polydactyly, M... |
OMIM:613610 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Facial telangiectasia in butterfly midface distribution, Hand pol... |
OMIM:210900 |
| Bardet-Biedl Syndrome |
|
Childhood-onset truncal obesity, Astigmatism, Finger syndactyly, Emotional lability, Depression, ... |
ORPHA:110 |
| Autosomal Dominant Robinow Syndrome |
|
Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Elbow dislocation, Femoral he... |
ORPHA:3107 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Recurrent corneal erosion... |
OMIM:149730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Coloboma, Retinal atrophy, Megalocornea, Micrognat... |
OMIM:253280 |
| Friedreich Ataxia 2 |
|
Pes cavus, Congestive heart failure, Hammertoe, Concentric hypertrophic cardiomyopathy, Abnormal EKG |
OMIM:601992 |
| Gaucher Disease |
|
Depression, Corneal opacity, Pulmonary arterial hypertension, Dysphagia, Arthrogryposis multiplex... |
ORPHA:355 |
| Rapp-Hodgkin Syndrome |
|
Palmoplantar keratoderma, Enamel hypoplasia, 2-3 toe cutaneous syndactyly, Syndactyly |
OMIM:129400 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Omphalocele, Umbilical hernia, Short toe, Brac... |
ORPHA:1519 |
| Xeroderma Pigmentosum |
|
Optic atrophy, Pterygium, Conjunctival telangiectasia, Failure to thrive, Keratitis, Telangiectas... |
ORPHA:910 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Astigmatism, Omphalocele, Micrognathia, Syndactyly, Attention deficit hyperactivity disorder |
OMIM:618820 |
| Constricting Bands, Congenital |
|
Hand polydactyly, Syndactyly, Talipes equinovarus, Omphalocele |
OMIM:217100 |
| Limb-Mammary Syndrome |
|
Clinodactyly of the 5th finger, Chronic irritative conjunctivitis, Oligodactyly, Syndactyly, 3-4 ... |
ORPHA:69085 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma |
ORPHA:42775 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Ciliary body coloboma, Iris coloboma, Radial deviation of finger, ... |
OMIM:309800 |
| Gaucher Disease, Type Iiic |
|
Pes cavus, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Syndactyly |
OMIM:224120 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Dysphagia, Synda... |
ORPHA:261552 |
| Interatrial Communication |
|
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... |
ORPHA:1478 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Astigmatism, Clinodactyly of the 5th finger, Inguinal hernia, Cone-shaped epiphy... |
OMIM:150230 |
| Loeys-Dietz Syndrome 2 |
|
Inguinal hernia, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, P... |
OMIM:610168 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Down-... |
ORPHA:1974 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Fibular hypoplasia, Hip subluxation, Pulmonary arterial hypertension, O... |
ORPHA:444077 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Dysphagia, Syndactyly, Adducted thumb, ... |
ORPHA:261537 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Con... |
ORPHA:96123 |
| Adult Syndrome |
|
Split foot, Toe syndactyly, Finger syndactyly |
ORPHA:978 |
| Wilson Disease |
|
Sunflower cataract, Pedal edema, Kayser-Fleischer ring, Dysphagia, Chondrocalcinosis |
OMIM:277900 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Broad hallux phalanx, Finger syndactyly, Preaxial hand polydactyly |
ORPHA:2211 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Posterior embryotoxon, Obesity, Micrognathia, Sclerocornea, Umbi... |
OMIM:188400 |
| Fontaine Progeroid Syndrome |
|
Deep palmar crease, Absent distal phalanges, Pulmonary arterial hypertension, Tricuspid regurgita... |
OMIM:612289 |
| Mowat-Wilson Syndrome |
|
Pulmonic stenosis, Aortic valve stenosis, Dysphagia, Syndactyly, Adducted thumb, Long toe, Bruxis... |
ORPHA:2152 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Slender finger, Broad thumb, Failure to thrive, Radioulnar synostosis, Micrognat... |
OMIM:619325 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Failure to thrive, Syndactyl... |
OMIM:192350 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Unilateral brachydactyly, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia inv... |
ORPHA:1521 |
| Mckusick-Kaufman Syndrome |
|
Postaxial hand polydactyly, Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, P... |
OMIM:236700 |
| Doors Syndrome |
|
Optic atrophy, Equinovarus deformity, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenom... |
ORPHA:79500 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Telangiectasia of the skin, Telangiectasia of the oral mucos... |
ORPHA:79280 |
| Fraser Syndrome 3 |
|
Micrognathia, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polydactyly, Bidirectional shunt, Aortic regurgitation, Inguinal hernia, Coloboma, Cardiac arrest... |
OMIM:619534 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent corneal erosions, Corneal neovascularization, Inguinal hernia, Hypertension, Postaxial ... |
OMIM:308205 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Micrognathi... |
ORPHA:1071 |
| Holoprosencephaly 2 |
|
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology |
ORPHA:2136 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Opacification of the corneal stroma, 11 pairs of ribs, Retinal dysplasia |
OMIM:615287 |
| Hartsfield Syndrome |
|
Ectrodactyly, Syndactyly |
OMIM:615465 |
| Fraser Syndrome |
|
Finger syndactyly, Omphalocele, Limb undergrowth, Wide pubic symphysis, Umbilical hernia, Toe syn... |
ORPHA:2052 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
