Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Palmoplantar keratoderma, Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversi... |
OMIM:611528 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Scapular winging, Ventricular fibrillation,... |
OMIM:613507 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Muscular Dystrophy, Becker Type |
|
Arrhythmia, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
Spermatogenic Failure 12 |
|
Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... |
OMIM:132900 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... |
OMIM:613690 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Andersen-Tawil Syndrome |
|
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... |
ORPHA:37553 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... |
ORPHA:263297 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale |
OMIM:619699 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Iris coloboma, Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Mitral regurgit... |
ORPHA:88630 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... |
ORPHA:3400 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... |
OMIM:615373 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... |
OMIM:115195 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... |
ORPHA:1643 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
Grange Syndrome |
|
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... |
ORPHA:79094 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infer... |
OMIM:615703 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... |
OMIM:170390 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... |
OMIM:620067 |
Naxos Disease |
|
Palmoplantar keratoderma, Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventri... |
ORPHA:34217 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Decreased skull... |
ORPHA:1452 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h... |
OMIM:602390 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Tooth agenesis, Micrognathia, Bilateral single transverse palmar creases,... |
ORPHA:1964 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... |
OMIM:613642 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Sick sinus syndrome, Brachydac... |
OMIM:140450 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi... |
ORPHA:3145 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... |
OMIM:606685 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Decreased testi... |
OMIM:610198 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Respiratory distress, Ascites, Tricuspid regurgitation, Pleural effusio... |
ORPHA:2414 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Mulibrey Nanism |
|
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Astigmatism, Single... |
OMIM:253250 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly, Pectus ... |
ORPHA:2835 |
Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
Antley-Bixler Syndrome |
|
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of ... |
ORPHA:83 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Microdontia, Thin u... |
OMIM:601005 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Death in childhood, Death in infancy, Bradycardia |
OMIM:620265 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... |
OMIM:616276 |
Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Ebstein Anomaly |
|
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... |
OMIM:224700 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypopl... |
ORPHA:1798 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... |
ORPHA:1513 |
Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... |
OMIM:604169 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Fle... |
OMIM:618815 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressiv... |
OMIM:620438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Intrauterine growth retarda... |
OMIM:619048 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Posterior subcapsular cataract, Hypogonadism, Palpitations, Right... |
OMIM:602668 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hypertension, Diabetes mellitus, Polycystic ovaries |
ORPHA:79084 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... |
OMIM:620236 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Malar rash, Abnormal e... |
ORPHA:398124 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Malar f... |
ORPHA:2972 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 8 |
|
Atrial fibrillation |
OMIM:613055 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... |
OMIM:614294 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Cryptorch... |
OMIM:272440 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Craniometadiaphyseal Dysplasia |
|
Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, ... |
OMIM:269300 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive hear... |
ORPHA:91130 |
Distal 17P13.1 Microdeletion Syndrome |
|
Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, Protr... |
ORPHA:319171 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Type II diabetes mellitus, Polycystic ovarie... |
ORPHA:100 |
Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Cryptorchidism, Everte... |
OMIM:611174 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu... |
OMIM:616501 |
Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, P... |
OMIM:618652 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contracture, Reduced left v... |
OMIM:181350 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Postnatal growth retard... |
OMIM:615440 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... |
OMIM:249670 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Hypoplasia of the maxilla, Aplastic clavicle, Hearing impairment, Delayed ossificatio... |
OMIM:620099 |
Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Dental crowding, Misalignment of incisors, Astigmatism, Patent foramen ovale, Oligod... |
OMIM:619184 |
Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A... |
OMIM:619825 |
Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Aortic aneurysm, Patent ductus arteriosus, Aortic regurgitation |
ORPHA:98892 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... |
ORPHA:363417 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, High, narrow palate, Abnormal oral mucosa ... |
ORPHA:1968 |
Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Microdont... |
OMIM:619736 |
Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Long philtrum, Micrognathia, Astigmatism, Patent foramen ovale, Ventricular septal d... |
OMIM:615668 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Ventricular septal defect |
OMIM:616277 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... |
OMIM:185500 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Paroxysmal ... |
OMIM:613205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Keratitis, Inc... |
OMIM:226670 |
Grange Syndrome |
|
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... |
OMIM:602531 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
Preeclampsia |
|
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, In... |
ORPHA:275555 |
Acrofacial Dysostosis, Catania Type |
|
Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,... |
ORPHA:1786 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... |
OMIM:212138 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
Li-Campeau Syndrome |
|
Patellar hypoplasia, Long philtrum, Cryptorchidism, Single transverse palmar crease, Ventricular ... |
OMIM:619189 |
48,Xyyy Syndrome |
|
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Azoospermia, Radioulnar synostosis, ... |
ORPHA:99329 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... |
OMIM:611705 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:620024 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad... |
OMIM:235200 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... |
ORPHA:83451 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Narrow mouth, Axenfeld anomaly, Ventricular septal defect, Telangiectasia, Posterior embryotoxon,... |
OMIM:612582 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... |
ORPHA:1772 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Long philtrum, Atrophic scars, Narrow mouth, Inguinal hernia, Mitral regurgitati... |
OMIM:615539 |
Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... |
OMIM:618067 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Right bundle branch block, Knee flexion contracture, Achilles ten... |
OMIM:300695 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Obesity, Mitral valve prolapse, Short stature, Abnormality of the hypothalamus-pitui... |
ORPHA:2183 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Double Outlet Left Ventricle |
|
Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmona... |
ORPHA:3427 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... |
OMIM:609008 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, T... |
ORPHA:2790 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia, Hyperhidrosi... |
OMIM:613576 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... |
ORPHA:280679 |
Toluene Embryopathy |
|
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Mi... |
ORPHA:1920 |
Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... |
ORPHA:402075 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... |
ORPHA:137675 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Congestive heart failure,... |
ORPHA:528 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia |
OMIM:615821 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Carious teeth, Microretrognathia, Tooth agenesis, Small epiphyses, Genu va... |
OMIM:618363 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... |
ORPHA:90064 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Arrhythmia |
OMIM:618453 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
Congenital Factor Vii Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage, ... |
ORPHA:327 |
Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Oste... |
ORPHA:2776 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Mandibular prognathia, Clinodactyly, Downturned corners of mout... |
ORPHA:369891 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... |
ORPHA:245 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... |
ORPHA:335 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilion, Bicuspid aortic ... |
OMIM:619149 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the zygomatic bone, Joint hypermobility, Protrudin... |
ORPHA:1778 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Tricuspid regurgita... |
OMIM:618870 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Marshall Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... |
ORPHA:560 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Narrow mouth, Abnormal metacarpal morphology, Brachydacty... |
ORPHA:2370 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction |
ORPHA:334 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Br... |
OMIM:614702 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... |
OMIM:255160 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... |
ORPHA:2299 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... |
OMIM:620519 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... |
OMIM:617072 |
20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Pectus carinatum, Long phil... |
ORPHA:261295 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
OMIM:604367 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shortened QT interval, Pan... |
ORPHA:143 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... |
ORPHA:432 |
Perching Syndrome |
|
Respiratory distress, Camptodactyly, Cyanosis, Joint contracture |
OMIM:617055 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Azoospermia, Ambiguous genitalia, Short stature, Primary gonadal insuff... |
ORPHA:261519 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the dentition, Pectus carinatum, Radioulnar synostosis, Microcephaly, Abnormality ... |
ORPHA:3268 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachyda... |
ORPHA:2643 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Obesity, Exercise-induced rhabdomyolysis, Patent ... |
ORPHA:26793 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Low-set, posteriorl... |
ORPHA:1110 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... |
OMIM:268020 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Long philtrum, Micrognathia,... |
OMIM:618821 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Preauricular pit, Microcephaly, Convex nasal ridge, Craniosynostosis, ... |
OMIM:600252 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Oral mucosal blisters, Hypodontia, ... |
OMIM:226650 |
Marshall-Smith Syndrome |
|
Aspiration pneumonia, Irregular dentition, Cryptorchidism, Prominence of the premaxilla, Ventricu... |
OMIM:602535 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Retrognathia, Umbilical hernia, Micrognathia, Joint contracture of the 5th finger, Jo... |
OMIM:618914 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm... |
OMIM:618950 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Overlapping toe, Overlapping fingers,... |
OMIM:618316 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification |
OMIM:114065 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Abnormality of the middle ear, High palate, Choanal atresi... |
ORPHA:861 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Polyc... |
ORPHA:79083 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Pulmonic stenosi... |
OMIM:212780 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Thin upper lip vermilion, Abnormal no... |
ORPHA:1295 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... |
ORPHA:565612 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... |
ORPHA:1131 |
Pseudopseudohypoparathyroidism |
|
Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, ... |
OMIM:612463 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Choanal atresia, Depressed nasal bridge, Midface retrusion, H... |
ORPHA:1555 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... |
OMIM:248390 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Midface retrusion, Toot... |
ORPHA:1248 |
Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Talipes equinovarus, Pelvic girdle muscle weakness, Prolonged PR interval, S... |
ORPHA:273 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Prematur... |
OMIM:609286 |
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Flexion cont... |
OMIM:203550 |
Ogden Syndrome |
|
Everted upper lip vermilion, Thick upper lip vermilion, Torsade de pointes, Recurrent otitis medi... |
OMIM:300855 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath... |
OMIM:300952 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... |
ORPHA:79113 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Van Maldergem Syndrome 1 |
|
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... |
OMIM:601390 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal heart valve morphology, Abnormal hip bone morphology, Inguina... |
ORPHA:577 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Shortened QT interval, Pancreatic adenocarcinoma,... |
ORPHA:99880 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Midface retrusion, Hypoplasia of ... |
ORPHA:3253 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal he... |
ORPHA:329224 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Cataract, Atopic dermatitis, Dysplasia of the femoral head, Patent foramen ... |
OMIM:616854 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation |
OMIM:613876 |
Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Prolidase Deficiency |
|
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Hearing impairment, Hypoplasia of t... |
ORPHA:742 |
Schuurs-Hoeijmakers Syndrome |
|
Downturned corners of mouth, Diastema, Cryptorchidism, Patent foramen ovale, Thin upper lip vermi... |
OMIM:615009 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Nasal congestion, Facial hyperos... |
OMIM:218400 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Atopic dermatitis, Dental malocclusion, Left ventricular systolic dys... |
OMIM:619719 |
Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Developmental And Epileptic Encephalopathy 111 |
|
Hypoplastic left heart, Sinus tachycardia, Umbilical hernia, Biventricular hypertrophy, Inguinal ... |
OMIM:620504 |
Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
Distal Deletion 10P |
|
Intrauterine growth retardation, Cryptorchidism, Polycystic ovaries, Short stature, Hypoplasia of... |
ORPHA:1580 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
Winchester Syndrome |
|
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Corneal opacity, Broad... |
OMIM:277950 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Death in infancy, Pulmonary insuffi... |
OMIM:619433 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal de... |
ORPHA:1812 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Atypical scarring of skin, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, ... |
ORPHA:294975 |
Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... |
OMIM:613684 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Oculodentodigital Dysplasia |
|
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial septal defec... |
OMIM:164200 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
Ebstein Malformation Of The Tricuspid Valve |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... |
ORPHA:1880 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Hypoplasia of the maxilla, Abnormality o... |
ORPHA:193 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Micrognathia, Malar flattening, Thin bony cortex, Macrocephaly, Obtuse an... |
ORPHA:85184 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Pectus carinatum, Narrow chest, Dental malocclusion, Downturned corners o... |
ORPHA:1327 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Mosaic Trisomy 14 |
|
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ante... |
ORPHA:1703 |
Pfeiffer Syndrome |
|
Wide nasal bridge, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Shor... |
ORPHA:710 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... |
OMIM:142900 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... |
ORPHA:2935 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Pseudohypoparathyroid... |
OMIM:103580 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... |
OMIM:608800 |
Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Astigmatism, Taurodontia, Perimembranous ... |
OMIM:618205 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... |
ORPHA:91387 |
Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Diaphragmatic eventration, Microretrognathia, Sec... |
OMIM:616866 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Ab... |
ORPHA:500159 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Narrow mouth, Cryptorchidism, Single transverse palmar crease, Atrial septal defec... |
OMIM:615502 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Tibial metaphyseal ir... |
ORPHA:457395 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral el... |
OMIM:166300 |
Van Maldergem Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment, Micrognathia, Irregular dentition, Se... |
OMIM:615546 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syn... |
OMIM:618727 |
Lujan-Fryns Syndrome |
|
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... |
ORPHA:776 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Micropenis, P... |
OMIM:616894 |
Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response ... |
ORPHA:94089 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Cardiomyopathy, Heart block, Intrinsic hand muscle atrop... |
ORPHA:98912 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... |
OMIM:300845 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
Frontonasal Dysplasia 1 |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing i... |
OMIM:136760 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Hypospadias, Recurrent pneumonia, Dental malocclusion, Widely spa... |
OMIM:619293 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis |
OMIM:615812 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... |
OMIM:618086 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr... |
ORPHA:615 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, High palate, D... |
OMIM:210600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Diabetes... |
ORPHA:2348 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Ventricular tachycard... |
OMIM:605676 |
Insulin-Like Growth Factor I, Resistance To |
|
Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviation of finger, Long philtrum, Re... |
OMIM:270450 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse |
OMIM:225320 |
Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... |
ORPHA:1529 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Low-set ears, Thin ribs, Joint contracture of the hand, Micrognathia, High palate, Abnormal pinna... |
OMIM:182212 |
Scorpion Envenomation |
|
Acute pancreatitis, Mydriasis, Cardiogenic shock, Prominent U wave, Priapism, Congestive heart fa... |
ORPHA:466677 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Osteoporosis of vertebrae, ... |
OMIM:156510 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Prominent fingertip pads, Long philtrum, Abnormal heart morphology, Recurren... |
OMIM:618494 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Syndactyly |
OMIM:271109 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Wide nose |
ORPHA:3074 |
Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... |
OMIM:618761 |
Achondrogenesis Type 1B |
|
Narrow chest, Abnormal enchondral ossification, Long philtrum, Short thorax, Macrocephaly, Anteve... |
ORPHA:93298 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:95717 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
Craniolenticulosutural Dysplasia |
|
Wide nasal bridge, Bifid uvula, Osteopenia, Carious teeth, Midface retrusion, Delayed eruption of... |
OMIM:607812 |
Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Patent foramen ovale, ... |
OMIM:610883 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Impotence |
ORPHA:85447 |
Hajdu-Cheney Syndrome |
|
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased... |
ORPHA:955 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ... |
ORPHA:90322 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... |
ORPHA:2025 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... |
ORPHA:392 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Cataract, Broad distal phalanx of the thumb, Pituitary resistance to thyr... |
ORPHA:79444 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Delayed eruption of teeth, Hypogonadism, Pseudohypoparathyroidism, Hypothyroidism, Enam... |
OMIM:612462 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Osteopenia, Pectus carinatum, Hypoplasia of the zygomatic bone, Velopharyngeal insu... |
OMIM:620663 |
Braddock-Carey Syndrome 1 |
|
Small hand, Clinodactyly, Ventricular septal defect, Aortic valve prolapse, Talipes equinovarus, ... |
OMIM:619980 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Single transverse palmar crease, Adducted thumb, Brachydactyl... |
OMIM:620062 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Large earlobe, Malar prominence, Joint h... |
ORPHA:2715 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... |
OMIM:300200 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Dental crowding, Clinodactyly, Thick lower lip vermilion, S... |
ORPHA:293939 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, ST segment elevat... |
OMIM:261740 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Premature thelarche, Ventricular... |
OMIM:616878 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... |
ORPHA:228410 |
48,Xxyy Syndrome |
|
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Chronic otiti... |
ORPHA:10 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met... |
OMIM:234250 |
Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Postnatal growth retardation, Hyperinsuline... |
OMIM:246200 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... |
ORPHA:1345 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int... |
OMIM:613849 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Preauricular skin tag, Cupped ear, Co... |
OMIM:616367 |
Desminopathy |
|
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... |
ORPHA:98909 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
Seckel Syndrome 5 |
|
Clitoral hypertrophy, Retrognathia, Selective tooth agenesis, Micrognathia, Cryptorchidism, Oligo... |
OMIM:613823 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormal rib cage morphology, Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone o... |
OMIM:608154 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... |
OMIM:257850 |
Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... |
OMIM:615363 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Prominent median palata... |
OMIM:300602 |
Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili... |
ORPHA:177907 |
8Q22.1 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal ridge, Hypoplasia of the maxilla, Wide nasal bridge, Abnormality of... |
ORPHA:178303 |
Short Syndrome |
|
Abnormality of the dentition, Abnormal mandible morphology, Megalocornea, Abnormal dental enamel ... |
ORPHA:3163 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Hypoplasia of th... |
ORPHA:958 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia |
OMIM:614407 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Hyperhidrosis, Oral mucosal blisters |
ORPHA:79406 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Sandal gap, Elbow flexion contracture, Flexion contracture of finger, Prol... |
OMIM:619040 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Treacher Collins Syndrome 2 |
|
Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th... |
OMIM:613717 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp, Enam... |
ORPHA:79402 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Macroorchidism, Truncal obesity, Polycystic ovaries |
ORPHA:284180 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Cataract, Dental malocclusion, Widely spaced teeth, Open bite, Gingiva... |
ORPHA:61 |
Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Cataract, Male hypogonadism, Foot joint contracture, Widely spaced ... |
ORPHA:90321 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Temple-Baraitser Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Everted upper lip vermilion... |
ORPHA:420561 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... |
ORPHA:915 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Hepatitis, Hypohidrosis, Palmoplantar hyperkeratosis, Enamel hypoplasia, Thick ver... |
ORPHA:363523 |
Congenital Syphilis |
|
Pneumonia, Cataract, Keratitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatos... |
ORPHA:499009 |
Grant Syndrome |
|
Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Open bite, Micrognathia, ... |
ORPHA:2097 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea, Death in infancy |
OMIM:610992 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Polycystic ovaries, Vent... |
ORPHA:371428 |
Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, Talipes equinovarus, First deg... |
OMIM:617336 |
Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventr... |
OMIM:606003 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Alagille Syndrome |
|
Short distal phalanx of finger, Keratoconus, Micrognathia, Abnormal pupil morphology, Cryptorchid... |
ORPHA:52 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... |
OMIM:615300 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... |
OMIM:618300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block |
ORPHA:206559 |
Ramon Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... |
ORPHA:3019 |
Coffin-Siris Syndrome 7 |
|
Downturned corners of mouth, Thick lower lip vermilion, Recurrent otitis media, Patent foramen ov... |
OMIM:618027 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Micr... |
ORPHA:276422 |
Dental Ankylosis |
|
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... |
ORPHA:1077 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cyanosis, Cor pulmonale |
OMIM:263000 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Gitelman Syndrome |
|
Rhabdomyolysis, Parathyroid adenoma, Tubulointerstitial nephritis, Ventricular fibrillation, Prol... |
ORPHA:358 |
Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Ectopia lentis, Long philtrum, Chorioretinal coloboma, Mic... |
OMIM:218340 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Midface retrusion, Bulbous nose, Protruding ear, Thin upper lip vermil... |
OMIM:618737 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Prominent nasal bridge, Macrocephaly, ... |
OMIM:300676 |
2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality... |
ORPHA:1617 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Arthrogryposis multiplex congenita, Failure to thrive, Tetralogy of Fallot, Cryptorchid... |
ORPHA:250994 |
Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Bowing of limbs due to mu... |
OMIM:259420 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Patent foramen ovale, Atrial septal defect, Adducted thumb, Rocker bottom foot... |
ORPHA:89844 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Sensorineural heari... |
ORPHA:71267 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation |
OMIM:613874 |
Shaheen Syndrome |
|
Carious teeth, Palmoplantar hyperkeratosis, Hypohidrosis, Enamel hypoplasia |
OMIM:615328 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Obesity, Short stature, Polycystic ovaries |
OMIM:616831 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Lowry-Maclean Syndrome |
|
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, High, narrow palate, Osteopenia, Retrog... |
ORPHA:2409 |
Ring Chromosome 21 Syndrome |
|
Abnormal heart morphology, Azoospermia, Amenorrhea, Short stature, Infertility, Diabetes insipidus |
ORPHA:1445 |
Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Broad nasal tip, Foot joint contracture, Narrow nasal bridge, Micrognathia, ... |
ORPHA:166108 |
Carpenter Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognath... |
OMIM:201000 |
Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Cataract, Rectovaginal fistula, Delayed eruption of... |
OMIM:600373 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Wide nasal bridge, Narrow chest, Abnormal clavicle morphology, Downturned corners o... |
ORPHA:93267 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum... |
OMIM:613603 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
Oculoskeletodental Syndrome |
|
Short 5th finger, Abnormality of the dentition, Clinodactyly, Retrognathia, Hypoplasia of the cap... |
ORPHA:557003 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... |
OMIM:617052 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
Frank-Ter Haar Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Jo... |
ORPHA:137834 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Cataract, Broad distal phalanx of the thumb, Short 3rd metacarpal, ... |
ORPHA:79443 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Joint hypermobility, ... |
ORPHA:90653 |
48,Xxxy Syndrome |
|
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Talipes equinovarus, ... |
ORPHA:96263 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Cataract, Failure to thrive, Hypertrophic cardiom... |
OMIM:617228 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Open mouth, Cryptorchidism, Patent foramen ovale, Talipes equinovarus, Transpositio... |
OMIM:616789 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Retrognathia, Pancytopenia, Splenomegaly, Ventricular septal... |
OMIM:614576 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
Achondrogenesis Type 1A |
|
Narrow chest, Abnormal enchondral ossification, Long philtrum, Macrocephaly, Anteverted nares, Mi... |
ORPHA:93299 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Low-set ears, Retrognathia, Prominent nose, Supernumerary ribs, Osteoporosis, Abnormal number of ... |
ORPHA:2958 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Microcephaly, Reduced bone mineral density, Delayed eruption of teeth |
OMIM:619489 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Death in infancy, Bradycardia |
OMIM:616299 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly |
OMIM:615983 |
Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... |
ORPHA:1388 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
Rapp-Hodgkin Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent otitis media, Narrow... |
OMIM:129400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal dental enamel morphology, Bulbo... |
ORPHA:2180 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Ankyloglossia, Malar flattening, Mitral valve prolapse, Bilateral cleft palate, Thin... |
OMIM:618874 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Anteverted nares, Wide mouth, Exaggerated cupid's bow, Microcephaly, Posteriorly ro... |
OMIM:618506 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Velopharyngeal ins... |
ORPHA:199306 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Mild conductive hearing impairment, Delayed eruption of primary teet... |
ORPHA:763 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Ellis Van Creveld Syndrome |
|
Acute leukemia, Synostosis of carpal bones, Genu valgum, Cryptorchidism, Ventricular septal defec... |
ORPHA:289 |
Orofaciodigital Syndrome Type 1 |
|
Hearing impairment, Open bite, Micrognathia, High palate, Tarsal synostosis, Chronic otitis media... |
ORPHA:2750 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Ulnar deviation of finger, Toe syndactyly, Microcornea, Short toe, Chorioretinal col... |
ORPHA:921 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Abnormal pupil morphology, Type 1 muscle fiber pr... |
OMIM:160565 |
Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cataract, Female hypogonadism, Male hypogonadism, Cholelithiasis, Chronic muc... |
OMIM:240300 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persis... |
OMIM:618342 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Congenital diaphragmatic hernia, Mi... |
OMIM:245600 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... |
OMIM:126320 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Incr... |
ORPHA:264580 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Ane... |
ORPHA:2325 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... |
ORPHA:276575 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Patent foramen ovale, Ve... |
OMIM:614261 |
Familial Isolated Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:154 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Micrognathia, Reduced subcutaneous adipose tissue, Myop... |
ORPHA:280365 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-... |
OMIM:613573 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Protruding ear, Micro... |
ORPHA:85279 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Low-set ears, Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of fing... |
ORPHA:2863 |
Frank-Ter Haar Syndrome |
|
Megalocornea, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bowing of the long ... |
OMIM:249420 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cataract, Short finger, Abnormal heart morphology, Decreased testicular size, External... |
ORPHA:1867 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Broad nasal tip, Macrocephaly, Anteverted nares, Everted lower lip ... |
ORPHA:1193 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Cryptorchidism, Broad phalanx, Bilateral coxa valga, Hypospadias, Short metacarpal,... |
ORPHA:439822 |
Harel-Yoon Syndrome |
|
Distal amyotrophy, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract, Corneal opa... |
OMIM:617183 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Gastrointestinal inflamm... |
ORPHA:79405 |
Renpenning Syndrome |
|
High, narrow palate, Broad columella, Abnormal rib morphology, Macrodontia, Prominent nose, Joint... |
ORPHA:3242 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Goiter, Bradyc... |
ORPHA:226313 |
Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b... |
ORPHA:444072 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
Otodental Syndrome |
|
Abnormality of canine, Cataract, Abnormal dental pulp morphology, Carious teeth, Periodontitis, A... |
ORPHA:2791 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Failure to thrive, Premature ovarian insufficiency |
ORPHA:2278 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly |
OMIM:600384 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... |
ORPHA:1054 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Reduced subcutaneous adipose tissue, H... |
OMIM:216400 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... |
ORPHA:276580 |
49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... |
OMIM:618775 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... |
OMIM:605282 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... |
ORPHA:555874 |
49,Xxxxy Syndrome |
|
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Talipes equinovarus, ... |
ORPHA:96264 |
Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Abnormal ... |
OMIM:246560 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Median pseudocleft lip, Hypoplasia ... |
OMIM:619648 |
Orofaciodigital Syndrome I |
|
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t... |
OMIM:311200 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Delayed erupt... |
ORPHA:289157 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Abnormal antihelix morphology, Malar flattening, Convex nasal ridge, Abnormal rib m... |
ORPHA:2145 |
Hec Syndrome |
|
Cardiomyopathy, Endocardial fibroelastosis, Abnormal pupil morphology, Arrhythmia, Vaginal hydroc... |
ORPHA:2119 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Secondary amenorrhea, Premature ovarian insufficiency, Lower limb muscle weakness |
OMIM:620312 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Megalocornea, ... |
OMIM:228520 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Single transverse palmar cr... |
OMIM:620075 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... |
ORPHA:91 |
Sjogren-Larsson Syndrome |
|
Flexion contracture, Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... |
ORPHA:276556 |
Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognat... |
OMIM:617746 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Atrial septal defect, Patent ductus arteri... |
OMIM:620005 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micro... |
OMIM:309520 |
Mucous Membrane Pemphigoid |
|
Gingivitis, Atypical scarring of skin, Corneal opacity, Oral mucosal blisters |
ORPHA:46486 |
Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Micrognathia, Limbal ... |
ORPHA:2363 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect |
OMIM:615476 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope... |
OMIM:613870 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ... |
OMIM:620157 |
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Camptodactyly, Vertebral fusion, Delayed eruption of permanent tee... |
OMIM:113000 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Situs inversus totalis, Hypothyroidism, Dextrocardia |
OMIM:617577 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Cataract, Increased variability in muscle fiber diame... |
OMIM:301075 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... |
ORPHA:1515 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, Corneal opacity, Hip dysplas... |
ORPHA:496790 |
17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Malar flattening, Enamel hypoplasia, Thin vermilion border, Ma... |
ORPHA:139474 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Hypotension, Decreased circulating dehydroepiandroster... |
ORPHA:361 |
Acitretin/Etretinate Embryopathy |
|
Abnormality of the calcaneus, Third degree atrioventricular block, Atrioventricular canal defect,... |
ORPHA:40366 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Delayed eruption of teeth, Abnormal dental enamel morphology, Myopathy, Arrhythmia, Hyp... |
ORPHA:2238 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism, Third degree atrioventricular block |
ORPHA:480 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Pulmonary edema, Cardiac arrest, Tachypnea, Bradycardia, Tachycardia, Nasa... |
ORPHA:70587 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Familial Osteodysplasia, Anderson Type |
|
Depressed nasal ridge, Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, ... |
ORPHA:2769 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Hypospadias, Precoc... |
OMIM:210720 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid... |
OMIM:614473 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Megalo... |
OMIM:618729 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b... |
OMIM:616202 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Adrenal hyperplasia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial... |
ORPHA:251274 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Obesity, Primary amenorrhea, Tachycardia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... |
OMIM:263650 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... |
ORPHA:2751 |
Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Joint stiffness, Micrognathia, Undulate ribs, Missing... |
ORPHA:1801 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... |
OMIM:240950 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Hearing impairment |
ORPHA:2222 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Carious teeth, Enamel hypoplasia, Syndactyly |
OMIM:226700 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Telangiectasia, Neutropenia, Ca... |
ORPHA:221008 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... |
OMIM:615982 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... |
ORPHA:363444 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Talip... |
OMIM:301056 |
Noonan Syndrome With Multiple Lentigines |
|
Growth delay, Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, In... |
ORPHA:500 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Broad thumb, Broad hallux, Microcytic anemia, Decreased testicular size, Overlapping... |
ORPHA:293967 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Nance-Horan Syndrome |
|
Microcornea, Posterior Y-sutural cataract, Diastema, Supernumerary maxillary incisor, Development... |
OMIM:302350 |
Woolly Hair Nevus |
|
Precocious puberty, Heterochromia iridis, Brachydactyly, Persistent pupillary membrane, Widely-sp... |
ORPHA:79414 |
Trichothiodystrophy |
|
Carious teeth, Cryptorchidism, Ventricular septal defect, Neutropenia, Clubbing, High, narrow pal... |
ORPHA:33364 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Wide nasal bridge, High, narrow palate, Bifid uvula, Conductive hearing impairment,... |
ORPHA:2780 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Bulging epiphyses,... |
OMIM:277440 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Median cleft palate, Corneal opacity |
ORPHA:2432 |
Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
Diastrophic Dysplasia |
|
Depressed nasal bridge, Midface retrusion, Hearing impairment, Abnormal clavicle morphology, Camp... |
ORPHA:628 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... |
ORPHA:423 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Prominent nose, Abnormal cortical bone morphology, Prominence of the premaxill... |
OMIM:614886 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Cleft lip, Microretrognathia, Long philtrum, Umbilical hernia, Splenomegaly, Patent for... |
OMIM:251290 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Bilateral single transverse p... |
ORPHA:3310 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Marshall Syndrome |
|
Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Absent frontal si... |
OMIM:154780 |
Oculodentodigital Dysplasia |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... |
ORPHA:2710 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Dentinogenesis imperfecta, Narrow chest, Delayed eruption of teeth, Retro... |
ORPHA:166272 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Hyperplasia of midface, Abnormal clavicle morphology, Abnormal dental morphology, M... |
ORPHA:2522 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract, Muscular dystrophy |
OMIM:254000 |
Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Clinodactyly o... |
ORPHA:376 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Mandibular prognathia, Carious teeth, Widely space... |
OMIM:253010 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid regurgitation, Muscular ventricular septal defect, Cyanosi... |
OMIM:212093 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... |
ORPHA:99104 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Rhizomelia, Recurrent pneumonia, Short tibia, Sandal gap, Cryptorchidism, Short hu... |
OMIM:607143 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Acrocraniofacial Dysostosis |
|
Choanal atresia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Anteverted nar... |
ORPHA:949 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, posteriorly rot... |
ORPHA:1340 |
Osteoglosphonic Dysplasia |
|
Choanal atresia, Abnormal clavicle morphology, Tooth agenesis, Anteverted nares, Micrognathia, Pr... |
ORPHA:2645 |
Martsolf Syndrome 1 |
|
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Finger joi... |
OMIM:212720 |
Greig Cephalopolysyndactyly Syndrome |
|
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Cryptorchidi... |
OMIM:175700 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Cryptorchidism, Ventricular septal defect, Neutropenia, Bilateral talipes equino... |
ORPHA:163956 |
16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Retrognathia, Dec... |
ORPHA:485405 |
Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Skin rash, Atr... |
ORPHA:290 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Carious teeth, Palmoplantar keratoderma, Keratitis, Folliculitis, Scarring alopecia of ... |
OMIM:612843 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Micrognathia, Aplasia of the nasal bone, Sensorineural hearing impairment, Flexion con... |
OMIM:601812 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy |
ORPHA:159 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Growth delay |
OMIM:619272 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility |
ORPHA:63442 |
Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Malar f... |
OMIM:608545 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Failure to thrive, Cardiomyopathy, Bradycardia |
OMIM:232500 |
Distal Deletion 6P |
|
Abnormality of the dentition, Abnormal epiphysis morphology, Downturned corners of mouth, Ectopia... |
ORPHA:96125 |
Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Bifid uvula, Midface retrusion, Aplasia/Hypoplasia of the tongue, Anteverted nares,... |
ORPHA:1790 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... |
OMIM:214150 |
Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis |
OMIM:607016 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Short thorax |
OMIM:601809 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Congenital diaphragmatic he... |
ORPHA:2092 |
Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Sensorineural hearing impa... |
ORPHA:2027 |
Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Arrhythmia, Impotence, Diabetes mellitus |
OMIM:606069 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Hearing abnormality, Narrow mouth, Ab... |
ORPHA:2412 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Hypogon... |
ORPHA:3220 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... |
ORPHA:2326 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
White-Sutton Syndrome |
|
Bifid uvula, Iris coloboma, Broad thumb, Downturned corners of mouth, Micrognathia, Facial hypoto... |
OMIM:616364 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Limitation of joint mobility, Congestive heart failure, Joint hypermobility, Arrhythmia, Flexion ... |
ORPHA:157973 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... |
OMIM:615382 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... |
OMIM:277000 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
Fabry Disease |
|
Mitral regurgitation, Arrhythmia, Achalasia, Cataract, Hypertrophic cardiomyopathy, Bundle branch... |
ORPHA:324 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, High palate, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... |
ORPHA:90065 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mu... |
ORPHA:207 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:616198 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... |
ORPHA:3464 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Tibial torsion, Supernumerary nipple, Overlapping toe, Inguinal hernia, Patent foramen ovale, Cry... |
OMIM:618653 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Cleft soft palate, Reduced subcutaneous adipose tissue, Mitral regurgitati... |
OMIM:615582 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, 3-4 toe syndactyly, Septate va... |
OMIM:300707 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... |
OMIM:540000 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Arrhythmia, Joint contracture |
OMIM:616516 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Narrow chest, Delayed eruption of teeth, Long philtrum,... |
ORPHA:50814 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Patent foramen ovale, Pulmonary a... |
OMIM:616028 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... |
OMIM:235510 |
Khan-Khan-Katsanis Syndrome |
|
Peters anomaly, Clinodactyly, Tricuspid regurgitation, Lymphopenia, Corneal scarring, Micrognathi... |
OMIM:618460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Delayed erupti... |
OMIM:264700 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tooth malposition, Mandibular prognathia, Clinodactyly, Retrognathia, Tricuspid regurgitation, As... |
OMIM:619576 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... |
ORPHA:2919 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia, Macrotia |
ORPHA:93950 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Ab... |
ORPHA:2176 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Noonan Syndrome 2 |
|
Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v... |
OMIM:605275 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Pectus carinatum, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Bul... |
ORPHA:481152 |
Three M Syndrome 2 |
|
Thin ribs, Depressed nasal bridge, Pectus carinatum, Dental malocclusion, Delayed eruption of tee... |
OMIM:612921 |
Nail-Patella Syndrome |
|
Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal interphalangeal joint... |
ORPHA:2614 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot... |
ORPHA:99147 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Moebius Syndrome |
|
Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hypoplasia of the thumb... |
ORPHA:570 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo... |
OMIM:602196 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
Bent Bone Dysplasia Syndrome 1 |
|
Low-set ears, Coronal craniosynostosis, Natal tooth, Midface retrusion, Micrognathia, Gingival ov... |
OMIM:614592 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Sandal gap, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weaknes... |
ORPHA:477817 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Developmental cataract, Pa... |
OMIM:617044 |
Fibrochondrogenesis |
|
Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Camptodactyly of finger... |
ORPHA:2021 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... |
OMIM:190685 |
Costello Syndrome |
|
Abnormality of the dentition, Ulnar deviation of finger, Keratoconus, Thick lower lip vermilion, ... |
ORPHA:3071 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... |
ORPHA:8 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Mitten deformity... |
OMIM:226600 |
Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Long philtrum, Supernumerary nipple, Abnormal heart morphology, Astig... |
ORPHA:457279 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve pro... |
OMIM:180849 |
Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... |
OMIM:102510 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Palpitation... |
ORPHA:91355 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cys... |
ORPHA:400 |
Incontinentia Pigmenti |
|
Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Cataract, Hypodontia, Orofacia... |
ORPHA:464 |
Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Bilatera... |
ORPHA:236 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Malar flattening, Amelogenesis imperfecta, Diaphyseal dysplasia, Metaphysea... |
OMIM:614727 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... |
ORPHA:2410 |
Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Talipes equinovarus, Bicuspi... |
OMIM:617137 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Astigmatism, Patent foramen ovale, Ventricular septal defect, Talipes... |
OMIM:614961 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia |
OMIM:614498 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Open mo... |
OMIM:620654 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven... |
ORPHA:353277 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... |
ORPHA:1488 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased... |
OMIM:259440 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Macrotia, Choanal atresia, Depressed na... |
ORPHA:2162 |
Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... |
OMIM:137550 |
Terminal Osseous Dysplasia |
|
Toe clinodactyly, Iris coloboma, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg ... |
OMIM:300244 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Postnatal growth retardation, Dysmenorrhea, Increased body weight, Polycy... |
ORPHA:79240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, Intrauterin... |
ORPHA:66634 |
Alg12-Cdg |
|
Biventricular hypertrophy, Overlapping fingers, Micrognathia, Cryptorchidism, Talipes equinovarus... |
ORPHA:79324 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Cataract, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elb... |
ORPHA:3258 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,... |
ORPHA:2232 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Everted lower lip vermil... |
ORPHA:192 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Retrognathi... |
OMIM:612561 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Patent ductus arteriosu... |
OMIM:269860 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Carious teeth, Natal tooth, Clinodactyly, Ankyloglossia, Micrognathia, Aplasia of the thymus, Atr... |
OMIM:620186 |
Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Foot polydactyly, High palate, Short foot, Syndactyly, High, narrow p... |
OMIM:209900 |
Familial Thyroid Dyshormonogenesis |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:95716 |
Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Ventricular ... |
ORPHA:354 |
Autoimmune Hypoparathyroidism |
|
Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricu... |
ORPHA:36913 |
Erythrokeratodermia Variabilis |
|
Cataract, Patchy palmoplantar hyperkeratosis, Skin rash, Brachydactyly, Abnormal testis morpholog... |
ORPHA:317 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Sengers Syndrome |
|
Cataract, Hypertrophic cardiomyopathy, Premature ovarian insufficiency, Myopathy, Pulmonary arter... |
OMIM:212350 |
Malan Syndrome |
|
Midface retrusion, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla... |
OMIM:614753 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnormal cardiovascular sy... |
ORPHA:79086 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Microcephaly, Abnormal rib morphology |
ORPHA:2435 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia |
OMIM:310200 |
Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Broad thumb, Broad hallux, Downturned corners of mouth, Long phil... |
OMIM:611816 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Narrow mouth, Evert... |
OMIM:600920 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Cataract, Bundle branch block, Tented upper lip vermilion, First degree atrioventricular block, A... |
ORPHA:589821 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Cyanosis, Truncus arteriosus, Ventricu... |
ORPHA:3426 |
Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Decreased body weight, Hypogonadotropic hypogonadism, Developm... |
OMIM:619420 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Weakness of facial musculature |
OMIM:619967 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Wide nasal base, Dental crowding, Delayed eruption of teeth, Hearing impairment, Long philtrum, R... |
OMIM:616354 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... |
OMIM:616867 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:618454 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cryptorchidism, Talipes equinovarus, Everted lower lip vermilion, Finger joint hypermobility, Hig... |
OMIM:620371 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hand clenching, Biventricular hypertrophy, Overlapping toe, Narrow mouth, Reduced subcutaneous ad... |
OMIM:617402 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... |
ORPHA:1067 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormal epiphysis morphology, Abnormal tendon morphology, Thick... |
ORPHA:579 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Pseudohypoparathyroidism |
ORPHA:94090 |
Cranioectodermal Dysplasia 2 |
|
Clinodactyly, Micrognathia, Everted lower lip vermilion, Atrial septal defect, High palate, Paten... |
OMIM:613610 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Osteoporosis, Bradycardia, Atrial fibrillation, Tachycardia, F... |
OMIM:613327 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent pneumonia, Secundum atrial septal defect, Chronic mucocutaneous candidiasis, Lymphopeni... |
OMIM:614868 |
Chops Syndrome |
|
High, narrow palate, Cataract, Downturned corners of mouth, Long philtrum, Aspiration pneumonia, ... |
OMIM:616368 |
Frontometaphyseal Dysplasia 1 |
|
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Sensorineural hearing impairmen... |
OMIM:305620 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral o... |
ORPHA:2635 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... |
OMIM:241310 |
Usher Syndrome |
|
Cataract, Carious teeth, Abnormal dental enamel morphology, Hypertrophic cardiomyopathy, Abnormal... |
ORPHA:886 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hepatosplenomegal... |
ORPHA:505248 |
Metachondromatosis |
|
Pulmonic stenosis |
OMIM:156250 |
Keipert Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... |
ORPHA:2662 |
Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
Congenital Sialidosis Type 2 |
|
Cataract, Umbilical hernia, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Gingival... |
ORPHA:93400 |
Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Barrel-s... |
OMIM:215140 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G... |
OMIM:615156 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Calcinosis, Leuke... |
ORPHA:2909 |
Dysosteosclerosis |
|
Osteopenia, Narrow chest, Natal tooth, Hearing impairment, Delayed eruption of teeth, Absent para... |
OMIM:224300 |
Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Narrow chest, Delayed eruption of teeth, Hearing im... |
ORPHA:2484 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Ectopia pu... |
OMIM:608940 |
Raine Syndrome |
|
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protru... |
OMIM:259775 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Odontochondrodysplasia 1 |
|
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Micromelia, Delayed eruption of teeth,... |
OMIM:184260 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat... |
ORPHA:230851 |
Tetanus |
|
Stiff neck, Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Megalocornea, Subluxation of the small joints of the hand, Dysplasia of th... |
ORPHA:536471 |
Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal cornea morphology, Umbilical hernia, Pol... |
ORPHA:65759 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Macrocephaly |
ORPHA:397973 |
Atelis Syndrome 1 |
|
Cataract, Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Ventricular ... |
OMIM:620184 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia, Arthritis, Bone cyst |
ORPHA:85446 |
Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology, Hyperhidrosis |
ORPHA:2151 |
Moebius Syndrome |
|
Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim... |
OMIM:157900 |
Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Cryptorchidism, Broad philtrum, Torticollis, Hypoplasia of teeth... |
ORPHA:3010 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Abnormality of the dentition, Cataract, Hypoplasia of penis, Finger syndac... |
ORPHA:284160 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... |
OMIM:619322 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Short philtrum, Mandibular prognathia, Macrotia |
ORPHA:93945 |
Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... |
OMIM:200990 |
Tangier Disease |
|
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... |
ORPHA:31150 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Microglossia, Low-se... |
ORPHA:1307 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Retrognathia, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Short... |
OMIM:620113 |
Myotonic Dystrophy 1 |
|
Cataract, Cholelithiasis, Atrial flutter, Hypogonadism, Facial diplegia, First degree atrioventri... |
OMIM:160900 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Neutropenia, Abnormal ... |
ORPHA:1830 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
Leopard Syndrome 1 |
|
Hypospadias, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch bloc... |
OMIM:151100 |
Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Cataract, Abnormal epiphysis ... |
ORPHA:1458 |
Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... |
OMIM:601216 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Narrow mouth, Open mouth, Cryptorchidism, Ventricular septal defe... |
OMIM:300967 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Broad distal phalanx of finger, Cataract, Dental crowding, Delayed eruption of teeth... |
OMIM:300990 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Premature ovarian insufficiency... |
OMIM:610965 |
Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... |
OMIM:615109 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Failure to thrive, Death in infancy, Bradycardia |
OMIM:610768 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of peni... |
ORPHA:1381 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Ovarian cyst, Birth length ... |
OMIM:269880 |
Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Dental crowding, Palmar hyperhidrosis, High palate, Hand muscle atroph... |
OMIM:620545 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Congenital diaphragmatic hernia, Cr... |
OMIM:305600 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... |
OMIM:179613 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Achilles tendon contracture, Right bundle branch block, Decreased cervical spine flexion due to c... |
ORPHA:254361 |
Coffin-Siris Syndrome 3 |
|
Depressed nasal bridge, Hearing impairment, Long philtrum, Anteverted nares, Wide mouth, Joint hy... |
OMIM:614608 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Mucopolysaccharidosis Type 4 |
|
Abnormality of the dentition, Pectus carinatum, Carious teeth, Hearing impairment, Short thorax, ... |
ORPHA:582 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:98855 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Atypical scarring of skin, Mitten deformity, Scarring alopecia of scalp, Enam... |
ORPHA:251393 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Widely spaced teeth, Recurrent otitis media, Cryptorchidism, Microdontia, Abnormal... |
ORPHA:2728 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Acrodysostosis |
|
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Midf... |
ORPHA:950 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615108 |
Kagami-Ogata Syndrome |
|
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve... |
OMIM:608149 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Hypoplasia of the maxilla, Short nose, High palate, Flexion contracture, Macrotia |
OMIM:218000 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami, Microtia |
OMIM:141300 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:1120 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, T... |
OMIM:253200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Micrognathia, Patent foramen ovale, Ventricular septal defect, Atrial septa... |
OMIM:208085 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, S... |
OMIM:610829 |
Specific Granule Deficiency 2 |
|
Tooth malposition, Conical tooth, Recurrent pneumonia, Sandal gap, Recurrent otitis media, Absent... |
OMIM:617475 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the costochondr... |
ORPHA:79345 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Coronal cran... |
OMIM:101600 |
Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... |
ORPHA:2563 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Preauricular skin tag, Hypoplasia of the frontal bone, Hypoplasia of the maxil... |
ORPHA:306542 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... |
ORPHA:422 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Pectus carinatum, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Macr... |
OMIM:619797 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract, Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defec... |
OMIM:608227 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Mitral regurgitation, Hip contrac... |
ORPHA:576 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Stiff Skin Syndrome |
|
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility, Failure to thrive |
OMIM:619518 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
Fibrochondrogenesis 2 |
|
Midface retrusion, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-shaped thorax, Malar... |
OMIM:614524 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... |
ORPHA:52056 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septa... |
ORPHA:353281 |
Acrootoocular Syndrome |
|
Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate... |
ORPHA:2980 |
Eisenmenger Syndrome |
|
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... |
ORPHA:97214 |
Lyme Disease |
|
Arrhythmia, Arthritis, Atrioventricular block |
ORPHA:91546 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Congestive heart failure |
OMIM:300886 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Hyperinsulinemia, ... |
ORPHA:324575 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity |
ORPHA:1532 |
Sneddon Syndrome |
|
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension |
OMIM:182410 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal absce... |
OMIM:614684 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Underdeveloped nasal alae, Long philtrum, Anteverted ... |
OMIM:618825 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Small hand, Narrow mouth, Atrial septal defect, High pal... |
ORPHA:280633 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Distal u... |
OMIM:619566 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hernia, Corneal opacity, Rhinitis |
ORPHA:93476 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Hypoplasia of the maxilla, Midface retrusion, Diastema, Long thorax, Overhanging n... |
OMIM:619142 |
Buerger Disease |
|
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... |
ORPHA:36258 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... |
ORPHA:98853 |
Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugula... |
ORPHA:2302 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, In... |
OMIM:243150 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Small for gestational age |
OMIM:615917 |
Degcags Syndrome |
|
Toe syndactyly, Hepatosplenomegaly, Genu valgum, Micrognathia, Protruding tongue, Pancytopenia, V... |
OMIM:619488 |
Gabriele-De Vries Syndrome |
|
Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Micrognathia, Malar flatteni... |
OMIM:617557 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Bifid uvula, Long philtrum, Widely spaced teeth, Hypertrophic cardiomyopathy, Tricuspid regurgita... |
OMIM:617506 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Malar rash, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Hall-Riggs Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel... |
ORPHA:2107 |
High Altitude Pulmonary Edema |
|
Cyanosis, Pulmonary edema, Tachypnea, Tachycardia, Hypoxemia |
ORPHA:330012 |
Scalp-Ear-Nipple Syndrome |
|
Bifid uvula, Iris coloboma, Broad thumb, Cataract, Finger syndactyly, Congestive heart failure, B... |
OMIM:181270 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Recurrent otitis media, Micrognathia, Sprengel anomaly, Microdontia of primary teet... |
OMIM:213980 |
Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Open bit... |
ORPHA:2969 |
Mosaic Trisomy 9 |
|
Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal d... |
ORPHA:99776 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Wide nasal bridge, Osteopenia, Fractured radius, Unilateral cleft lip, Thoracic hyp... |
OMIM:616897 |
Shprintzen-Goldberg Syndrome |
|
Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Osteopenia, Conductive hearing impa... |
ORPHA:2462 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Diastema, Furrowed tongu... |
OMIM:300534 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Mitral regurgitation, Cr... |
ORPHA:363611 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul... |
OMIM:252605 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
D-Glyceric Aciduria |
|
Micropenis, Growth delay, Failure to thrive, Bradycardia |
OMIM:220120 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Microcephaly, Delayed erup... |
OMIM:619356 |
Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... |
OMIM:158350 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Chordee, Diap... |
OMIM:151050 |
Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryp... |
ORPHA:534 |
Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Micrognathia, Narrow mouth,... |
ORPHA:1234 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... |
OMIM:615084 |
Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ... |
OMIM:619229 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
3M Syndrome |
|
Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Micromelia, Delay... |
ORPHA:2616 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Narrow chest, Cleft lip, Natal tooth, Lateral clavicle hook... |
OMIM:617925 |
Mastocytosis, Cutaneous |
|
Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria |
OMIM:154800 |
Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear... |
OMIM:123500 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Hypertension, Mandibular prognathia |
ORPHA:1885 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Generalized edema, Tetralogy of Fallot, Cyanosis, Death in infancy, Ventricular septal defect, Tr... |
OMIM:617478 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small hand, Micrognathia, Cryptorchidism, Telangiectasia, Talipes equinovarus, High palate, Short... |
OMIM:268400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Aspiration pneumonia, Micrognathia, Ventricular septal defect, High palate, Hypospadi... |
ORPHA:444077 |
Femoral-Facial Syndrome |
|
Low-set ears, Long philtrum, Micrognathia, Rib fusion, Thin upper lip vermilion, Orofacial cleft,... |
ORPHA:1988 |
Renal Nutcracker Syndrome |
|
Varicocele, Infertility, Dysmenorrhea, Vulval varicose vein, Weight loss, Syncope, Orthostatic hy... |
ORPHA:71273 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Heari... |
ORPHA:1782 |
Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Small hand, Long philtrum, Abnormal dental enamel morphology, Micro... |
ORPHA:2323 |
Pseudoaminopterin Syndrome |
|
Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement... |
ORPHA:221120 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... |
OMIM:612863 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
Distal Deletion 12Q |
|
Overlapping toe, Micrognathia, Large hands, Patent ductus arteriosus, High, narrow palate, Congen... |
ORPHA:96149 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia |
OMIM:263800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:98863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Nablus Mask-Like Facial Syndrome |
|
Low-set ears, Joint contracture of the hand, Secondary microcephaly, Narrow mouth, Everted lower ... |
OMIM:608156 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Failure to thrive, In... |
ORPHA:90674 |
Laron Syndrome |
|
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... |
ORPHA:633 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
Opitz Gbbb Syndrome |
|
Natal tooth, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventri... |
ORPHA:2745 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Postnatal growth retardation, Mitral regurg... |
ORPHA:75249 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Cong... |
OMIM:309801 |
Simpson-Golabi-Behmel Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Congenital diaphragmatic he... |
ORPHA:373 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Gener... |
OMIM:208050 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Narrow palate, Macrocephaly, Thick vermilion ... |
ORPHA:364028 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Bilateral conductiv... |
OMIM:617802 |
Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Scarf Syndrome |
|
Long philtrum, Umbilical hernia, Bifid scrotum, Diastasis recti, Inguinal hernia, Cryptorchidism,... |
ORPHA:3134 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect... |
ORPHA:466791 |
Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Umbilical hernia, Supernumerary nipple, Overlapping toe, Micrognathia, In... |
OMIM:613884 |
Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath... |
ORPHA:989 |
Hurler Syndrome |
|
Recurrent otitis media, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regurgitation, Her... |
OMIM:607014 |
Hypomelanosis Of Ito |
|
Cataract, Radial deviation of finger, Clinodactyly, Thick lower lip vermilion, Hand polydactyly, ... |
OMIM:300337 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Low-set, posteriorly rotated ears, Micrognathia, Abnormal cortical ... |
ORPHA:1486 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Mitral regurgitat... |
OMIM:614008 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... |
ORPHA:980 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Abnormal pinna morphology, ... |
ORPHA:138 |
Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Congenital contracture, Retrognathia, Eczematoid dermatitis, Umbil... |
ORPHA:352490 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Abnormality of the dentition, Secundum atrial septal defect, Skeletal muscle atrophy... |
OMIM:615802 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Coffin-Siris Syndrome 2 |
|
Depressed nasal bridge, Delayed eruption of teeth, Hearing impairment, Long philtrum, Thick lower... |
OMIM:614607 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Arrhythmia |
OMIM:618531 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Micrognathia, Delayed pubic b... |
OMIM:119600 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Low-set ears, Carious teeth, Midface retrusion, Long philtrum, Anteverted nares, Narrow mouth, Ma... |
OMIM:219200 |
Peters-Plus Syndrome |
|
Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow movement,... |
OMIM:261540 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Arrhythmia, Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Pycnodysostosis |
|
Aplastic clavicle, Carious teeth, Prominent nose, Micrognathia, Persistence of primary teeth, Del... |
OMIM:265800 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect, Arrhythmia, At... |
OMIM:249270 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Abnormal EKG, Reduced... |
ORPHA:268 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology, Cataract, Iris hypopigmentation |
ORPHA:231169 |
Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opacity, Flat ac... |
OMIM:271530 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abno... |
ORPHA:93262 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Cryptorchidism, Bradycardia |
ORPHA:565624 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... |
OMIM:620351 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi... |
ORPHA:3109 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Decreased l... |
ORPHA:465508 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Cleft lip, Ectopia pupillae, Decreased response to growth hormone sti... |
OMIM:618223 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula... |
OMIM:614096 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Carious teeth, Decreased skull ossification, Microcephaly, Full cheeks, Calvarial oste... |
ORPHA:93324 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Barrel-shaped chest, Decreased skull ossificati... |
OMIM:610915 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Uterine neoplasm, Ovarian cyst, Precocious puberty with Sertoli cell tumor, ... |
OMIM:175200 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hypopl... |
ORPHA:920 |
Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... |
ORPHA:449285 |
Gapo Syndrome |
|
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... |
OMIM:230740 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism |
ORPHA:363741 |
Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Inguina... |
OMIM:600325 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cone-shaped epiphysis, Congenital hypothyroidism, Malar flattening, Cryptorchidism, ... |
OMIM:614613 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Genu valgum, Pulmonic stenosis, Hypoplasia of teeth, Genu varum, Coxa valga |
OMIM:613312 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... |
ORPHA:17 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat... |
OMIM:619339 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Bilateral... |
OMIM:216340 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Osteopenia, Arrhythmia, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... |
ORPHA:444013 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Depressed nasal bridge, Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed ... |
OMIM:612350 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Large earlobe, Anteverted nares, J... |
OMIM:305400 |
Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Atypical scarring of skin, Keratoconus, Dentinogenesis imperfecta, Ab... |
OMIM:229200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... |
ORPHA:352447 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Esophagitis, Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, Avascular... |
ORPHA:3342 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Pulmonary Arteriovenous Malformation |
|
Epistaxis, Bacterial endocarditis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient isch... |
ORPHA:2038 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Midface retrusion, Eruption failure, Thick lower lip vermilion, ... |
OMIM:600002 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Microcoria, Hypoplasia o... |
ORPHA:93357 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pectus carinatum, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long... |
OMIM:190350 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... |
OMIM:619636 |
Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Micrognathia, Short lingual frenulum, Short hard palate, High palate, Short nose, M... |
OMIM:180700 |
Fgfr2-Related Bent Bone Dysplasia |
|
Low-set ears, Abnormality of the outer ear, Incomplete ossification of pubis, Osteopenia, Natal t... |
ORPHA:313855 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... |
OMIM:619167 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Cryptorchidism, Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint... |
OMIM:620327 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... |
ORPHA:96147 |
19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Aortic regurgitation, Hypospadias, Precocious puberty, Arthrogryposis multiplex... |
ORPHA:254346 |
Gapo Syndrome |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Asymmetry of the thorax, Midface retrusion... |
ORPHA:2067 |
Osteoglophonic Dysplasia |
|
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Osteopenia, Eru... |
OMIM:166250 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Chordee, Anterior pituitary ... |
OMIM:619841 |
Zellweger Syndrome |
|
Cataract, Clitoral hypertrophy, Micrognathia, Epiphyseal stippling, Primary adrenal insufficiency... |
ORPHA:912 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Decrease... |
OMIM:269700 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Abnormality of p... |
ORPHA:438216 |
Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Broad toe... |
ORPHA:488632 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Mandibular prognathia, Carious teeth, Recurrent pneumonia, Widely spaced ... |
OMIM:253000 |
Momo Syndrome |
|
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... |
OMIM:157980 |
Distal Duplication 18Q |
|
Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female external genitalia m... |
ORPHA:1716 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Ext... |
OMIM:615996 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy, Myopathy |
ORPHA:1369 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Hearing ... |
ORPHA:782 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Wide nasal bridge, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyel... |
ORPHA:2314 |
Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia, Growth delay |
OMIM:615234 |
Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Long philtrum, Retrognathia,... |
ORPHA:3447 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Wide nasal bridge, Short thorax, Macrocephaly, Anteverted nares, Missing ribs, Microcephaly, Abno... |
ORPHA:1797 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
Oculomaxillofacial Dysostosis |
|
Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft upper lip, Addu... |
ORPHA:1794 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... |
ORPHA:90308 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Abnormality of the dentition, Cataract, Abnormal dental enamel morphology, C... |
ORPHA:96169 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Neuralgic Amyotrophy |
|
Bifid uvula, Upper limb muscle weakness, Narrow mouth, Syndactyly, Scapular winging, Cleft palate... |
ORPHA:2901 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Low-set ears, Depressed nasal bridge, Midface retrusion, Delayed eruption of teeth, Underdevelope... |
OMIM:615866 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:101082 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Generalized lipodystrophy, Dysplasia of the femoral head, Genu valgum... |
OMIM:619127 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mo... |
ORPHA:391408 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... |
ORPHA:750 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidism, Abnormal p... |
ORPHA:2701 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Abnormality of canine, Short thumb, Widely spaced teeth, Lower limb hypertonia, Supernumerary nip... |
ORPHA:477993 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interp... |
OMIM:607015 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Long philtrum, Bilateral cryptorchidism, Unilateral cryptorchidism, Micrognathia, Narrow mouth, I... |
OMIM:613457 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... |
OMIM:308750 |
Geroderma Osteodysplasticum |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis, Malar flatten... |
OMIM:231070 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cataract, Cryptorchidism, Ventricular septal defect |
OMIM:613730 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Tracheom... |
ORPHA:314679 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Depressed nasal bridge, Synostosis of joints, Broad clavicles, Natal tooth, Narrow ... |
ORPHA:50945 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, ... |
ORPHA:1133 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Iris coloboma, Finger syndactyly, Con... |
ORPHA:1647 |
Elsahy-Waters Syndrome |
|
Low-set ears, High palate, Wide nose, Hypoplasia of the maxilla, Midface retrusion, Impacted toot... |
OMIM:211380 |
Noonan Syndrome 13 |
|
Clinodactyly, Long philtrum, Widely spaced teeth, Recurrent otitis media, Overlapping toe, Microg... |
OMIM:619087 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Small scrotum, Cryptorchidism, Arrhythmia, Ambiguous genitalia, Cardiac arrest, Hypoplasia of penis |
ORPHA:168593 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, Corneal opacity,... |
ORPHA:1473 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Hypogonadism, Cryptorchidism, Testicular seminoma, Hypohidrosis, Corneal opacity |
ORPHA:281090 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, D... |
OMIM:608594 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Inflammatory abnormality of the eye, Corneal erosion |
ORPHA:816 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, B... |
ORPHA:247768 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic sinusitis, Patent foramen ovale... |
OMIM:620642 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Ectopia pupillae, Malar flat... |
OMIM:602482 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi... |
OMIM:210710 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Biparietal narrowi... |
ORPHA:228396 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Limbal stem... |
OMIM:149730 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Congenital hypothyroidism, Patent foramen ovale, Ventricular septal defect, ... |
ORPHA:209905 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... |
OMIM:259710 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Hypospadias, Decreased response to growth hormone ... |
OMIM:220210 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short distal phalanx of finger, Bifid uvula, Cataract, Dental malocclusion, Band keratopathy, Sel... |
ORPHA:2959 |
Cole-Carpenter Syndrome 2 |
|
Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteopenia,... |
OMIM:616294 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... |
ORPHA:166024 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal hemidiaphragm morphology, Apnea, Cyanosis, Tachypnea, Dex... |
ORPHA:2257 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Postnatal growth retardation, Azoospermi... |
OMIM:210900 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... |
OMIM:619657 |
Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Narrow mouth, Vent... |
OMIM:616268 |
Meier-Gorlin Syndrome 1 |
|
Low-set ears, Thin ribs, Joint contracture of the hand, Atresia of the external auditory canal, H... |
OMIM:224690 |
Cockayne Syndrome |
|
Lentiglobus, Carious teeth, Reduced subcutaneous adipose tissue, Cryptorchidism, Delayed eruption... |
ORPHA:191 |
Myopathy, Myofibrillar, 2 |
|
Cataract, Muscular dystrophy, Skeletal muscle autophagosome accumulation, Quadriceps muscle weakn... |
OMIM:608810 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia |
ORPHA:91359 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry... |
OMIM:256520 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital sensorineural ... |
ORPHA:73272 |
Contractural Arachnodactyly, Congenital |
|
Micrognathia, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Arachnodactyly, Talip... |
OMIM:121050 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst |
OMIM:620086 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal lip morphology, Aplasia/Hypoplasia of ... |
ORPHA:2759 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
Trisomy 13 |
|
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Catara... |
ORPHA:3378 |
Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre... |
OMIM:252100 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Abnormal tendon morphology, Decreased testicular size, Infertility, Abnormal sperm head... |
ORPHA:320391 |
Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Natal tooth, Dental crowding... |
OMIM:145420 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Cyanosis, Overriding aorta, Double outlet right ventricle, Atrial septal def... |
ORPHA:3304 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... |
ORPHA:91347 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Short 1st metacarpal, Central hypothyroidism, Tetralogy of Fallot wi... |
OMIM:620305 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Micrognathia, Narrow mouth, Ante... |
ORPHA:96334 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... |
OMIM:613239 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... |
OMIM:208000 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Cataract, Abnormal pelvic girdle bone morphology, Failure of eruption of pe... |
OMIM:272460 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Wagro Syndrome |
|
Cataract, Hypoplastic female external genitalia, Dental crowding, Decreased testicular size, Anir... |
OMIM:612469 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Hypohidrosis, Orthostatic hypotension, Hyperhidr... |
ORPHA:1764 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Ventricul... |
OMIM:618142 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:2772 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Micrognathia, Narrow mouth, High palate, Pierre-Robin sequence, Posterior rib gap, ... |
OMIM:611209 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Abnormal cardiovascular system physiology, ... |
ORPHA:168569 |
Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear |
OMIM:167730 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Hepatosplenomegaly, Weight l... |
ORPHA:85450 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Short toe, Widely spaced toes, Umbilical hernia, Tricuspid regurgitation, ... |
ORPHA:404443 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pleural effusion, Cyanosis, Tachypnea, Pericardial effusion, Hypertension, Hypo... |
ORPHA:79126 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... |
ORPHA:542323 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Eczematoid dermatitis, Type E brachydactyly, Malar flattening, Arrhythmia, Hypothyroid... |
OMIM:600430 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal vagina morphology, Abnormal lip morphology, Hepatitis, Abnormal dental enamel morphology... |
ORPHA:1334 |
Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai... |
ORPHA:2554 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of a... |
OMIM:615352 |
Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
Eec Syndrome |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Xerostomia, Aplasia/Hypoplasia of the thumb, In... |
ORPHA:1896 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Peters anomaly, Annular pancreas, Furrowed tongue, Micrognathia, Cryptorchidism, Paten... |
OMIM:616975 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Patent foramen ovale |
OMIM:614582 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal heart morphology, Shock, Bradycardia, Small for gestational age |
ORPHA:391673 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Hearing impairment, Micrognathia, Short nose, Midface retrusion, Downturned corners... |
OMIM:268310 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic hypogonadism, ... |
ORPHA:251066 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Gastrointestinal hemorrhage |
ORPHA:543 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... |
ORPHA:3472 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Ohdo Syndrome |
|
Small scrotum, Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Cryptorchidism, Sm... |
OMIM:249620 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Pleural effusion, Hemothorax, Cyanosis, P... |
ORPHA:199241 |
Emanuel Syndrome |
|
Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, High p... |
ORPHA:96170 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Cataract, Obesity, Cryptorchidism |
OMIM:601794 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive, Cardiomyopathy |
ORPHA:67048 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Hypohidrosis, Conical primary incisor, Corneal opacity |
OMIM:602400 |
Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Finger syndactyly, Micrognathia, Displacement of the urethral meatus, Orofacial c... |
ORPHA:1556 |
Chromosome 9P Deletion Syndrome |
|
Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal def... |
OMIM:158170 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Midface retrusion, Clef... |
ORPHA:819 |
Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... |
ORPHA:1600 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prola... |
OMIM:609942 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology, Congenital diaphragmatic hernia, Submucous cleft hard palate, Crypto... |
ORPHA:250999 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... |
OMIM:208250 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Type E brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal |
OMIM:112410 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Tachycardia, ... |
ORPHA:99827 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract, Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Mitral re... |
ORPHA:2848 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Widely spaced teeth, Umbilical hernia, Abnormal heart valve morphology, Recurrent... |
OMIM:253220 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar... |
ORPHA:1194 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi... |
ORPHA:1842 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Conductive hearing impairment, Downturned corners of mouth, Abnormal mandible morphology, Long ph... |
ORPHA:2215 |
Celiac Disease, Susceptibility To, 1 |
|
Eczematoid dermatitis, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, ... |
OMIM:212750 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Long philtrum, Thick lower lip vermilion, Myopic astigmatism, Astigmatism,... |
OMIM:152950 |
Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... |
ORPHA:3099 |
Duane Retraction Syndrome |
|
Microcornea, Skeletal muscle atrophy, Central heterochromia, Preaxial hand polydactyly, Chorioret... |
ORPHA:233 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... |
ORPHA:423461 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:221016 |
Sclerosteosis 1 |
|
Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Broad clavicles, Dental malocclusio... |
OMIM:269500 |
Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... |
OMIM:102370 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Vaginal hernia |
ORPHA:3173 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadias... |
OMIM:265380 |
Meier-Gorlin Syndrome 3 |
|
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Tracheomalacia, Short t... |
OMIM:613803 |
Cranioectodermal Dysplasia 1 |
|
Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of all fingers, Everted lo... |
OMIM:218330 |
Emanuel Syndrome |
|
Aortic valve stenosis, Recurrent otitis media, Micrognathia, Congenital diaphragmatic hernia, Cry... |
OMIM:609029 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, H... |
ORPHA:794 |
Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... |
OMIM:613834 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:617201 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
Cleft Velum |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Recurrent... |
ORPHA:99772 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Epistaxis, Thyroiditis, Growth delay, Failure to thrive, Pulmonary venous... |
ORPHA:79259 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... |
ORPHA:139471 |
3P25.3 Microdeletion Syndrome |
|
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... |
ORPHA:435638 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx... |
OMIM:620193 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Micrognathia, Abnormal scrotum morph... |
ORPHA:397590 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Scarring alopecia of scalp, Carious teeth |
OMIM:619787 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion, Abnormal palate morphology, Convex nasal ridge, Man... |
ORPHA:1540 |
3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Micrognathia, Abnormal mitral v... |
ORPHA:7 |
Yao Syndrome |
|
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Or... |
OMIM:617321 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Weight loss, Bradycardia |
ORPHA:221098 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Hypoplasia of the zygomatic ... |
OMIM:618500 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... |
OMIM:101800 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Hypoplastic right heart, Retrognathia, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:617403 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Low-set ears, Abnormal external nose morphology, Hypoplasia of the zygomatic bone, Solitary media... |
ORPHA:556955 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyly, Metaphyseal widening, Shor... |
OMIM:618961 |
Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:618280 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Conductive hearing impairment, Narrow nasal... |
ORPHA:3082 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... |
ORPHA:110 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Abnormality of the dentition, Wide nasal bridge, Micrognathia, Joint hypermobility, Th... |
OMIM:617952 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Narrow mouth, Inguinal hernia, Abnormal thumb m... |
ORPHA:2719 |
Marfan Syndrome |
|
Aortic regurgitation, Ectopia lentis, Skeletal muscle atrophy, Congestive heart failure, Hypoplas... |
ORPHA:558 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Growth delay, Hypopituitarism, Decreased response to growth hormone ... |
ORPHA:226307 |
Gabriele-De Vries Syndrome |
|
Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Decreased response to growth... |
ORPHA:506358 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:90673 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Prominent nasal bridge... |
ORPHA:3068 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Bilateral talipe... |
OMIM:306955 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Uveitis, Splenomegaly, Infectious encephalitis, Myositi... |
ORPHA:3452 |
Cockayne Syndrome B |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Reduced subcutaneous adipose tissue, C... |
OMIM:133540 |
Oculofaciocardiodental Syndrome |
|
Bifid nasal tip, Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Hear... |
ORPHA:2712 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth, Hypohidrosis |
ORPHA:248 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
Hurler Syndrome |
|
Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of finger, Cardiomyop... |
ORPHA:93473 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Mandibular prognathia, Platelet anisocytosis, Umbilical hernia, Overlapping toe, Thin upper lip v... |
OMIM:620475 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia |
OMIM:617397 |
Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, High palate, Pierre-Robin... |
OMIM:300373 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... |
OMIM:610205 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Tooth malposition, Broad ribs, Abnormal dental... |
OMIM:277600 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m... |
OMIM:617865 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea... |
OMIM:164900 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Micr... |
OMIM:619503 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... |
OMIM:123700 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Char Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Hearing impairment, Agenesis of permanent teeth, P... |
ORPHA:46627 |
Hoxha-Aliu Syndrome |
|
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx... |
OMIM:620662 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Smith-Lemli-Opitz Syndrome |
|
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congenital dia... |
ORPHA:818 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrop... |
ORPHA:101028 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Overlapping fing... |
ORPHA:464738 |
Charlie M Syndrome |
|
Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr... |
ORPHA:1406 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Narrow chest, Midface retrusion, Thoracic hypop... |
OMIM:613848 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Micrognathi... |
ORPHA:3320 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent... |
OMIM:608328 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Branchioskeletogenital Syndrome |
|
Carious teeth, Thoracolumbar kyphoscoliosis, Abnormal midface morphology, Hypoplasia of the maxil... |
ORPHA:1299 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Elbow dislocation, Abnormal dental enamel morphology, Macrodontia, Congenital muscular torticolli... |
ORPHA:2916 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Carious teeth, Keratitis, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion ... |
OMIM:272430 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Bradycardia, Retinal he... |
OMIM:614653 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... |
ORPHA:391665 |
Frontofacionasal Dysplasia |
|
Bifid uvula, Hypoplasia of the frontal bone, Midface retrusion, Underdeveloped nasal alae, Cleft ... |
OMIM:229400 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... |
OMIM:151660 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Midface retrusion, Thoracic hypoplasia, Advanced tarsal ossif... |
OMIM:269250 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Pulmonary arterial hypertension |
OMIM:265120 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Abnormal oral mucosa morphology, Pneumonia, Abnormal cornea morpho... |
ORPHA:79404 |
Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricula... |
OMIM:617063 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Microg... |
ORPHA:740 |
Recon Progeroid Syndrome |
|
Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ... |
OMIM:620370 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h... |
OMIM:109120 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Cole-Carpenter Syndrome |
|
Midface retrusion, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Jo... |
ORPHA:2050 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... |
ORPHA:49827 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Microcephaly, Delayed eruption of teeth |
OMIM:615905 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
Mietens Syndrome |
|
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, El... |
ORPHA:2557 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Menometrorrhagia, Cardio... |
ORPHA:79430 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... |
ORPHA:249 |
19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Cataract, Toe syndactyly, Microcornea, Finger synda... |
ORPHA:217346 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Retrognathia, Decreased fertility, Ventricular septal defect, Keratoconjunctivitis s... |
OMIM:234050 |
Williams Syndrome |
|
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Sensorineural hearing impairment, R... |
ORPHA:904 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Retrognathia, Micrognathia, Decreased calvarial ossification, Craniosynostosis, Arthro... |
OMIM:618265 |
Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Noonan Syndrome 4 |
|
Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Cubi... |
OMIM:610733 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
Fryns Syndrome |
|
Short distal phalanx of finger, Hypospadias, Long philtrum, Tetralogy of Fallot, Micrognathia, Te... |
ORPHA:2059 |
Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Arrhythmia, Cryptorchidism |
ORPHA:1350 |
Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Abnormality of the sph... |
ORPHA:363700 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive hea... |
ORPHA:2095 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... |
OMIM:614114 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Relative macrocephaly, Delayed eruption of teeth |
OMIM:614450 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple ren... |
ORPHA:2869 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Iris coloboma, S... |
OMIM:610023 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Cortisone Reductase Deficiency 1 |
|
Acne, Infertility, Oligomenorrhea, Precocious puberty |
OMIM:604931 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Hypoplasia of the iris, Anhidrosis, Splenomegaly, Myopathy, Amelogenesis imperfecta, T... |
ORPHA:169090 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcornea, Clitoral hypertrophy, Recurrent pneumonia, Retrognathia, Furrowed tongue, ... |
OMIM:616449 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... |
ORPHA:368 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Congen... |
ORPHA:261279 |
Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased circulating ost... |
ORPHA:330015 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypopl... |
OMIM:607626 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Depressed nasal ridge, Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hypodontia, Everte... |
OMIM:601499 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Morgagni diaphragmatic hernia, Recurrent pneumonia, Sandal gap, Long philtrum, ... |
OMIM:613177 |
Sulfite Oxidase Deficiency, Isolated |
|
Microcephaly, Delayed eruption of teeth, Macrotia |
OMIM:272300 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Hypertension, Brachydactyly |
ORPHA:1276 |
Isolated Atp Synthase Deficiency |
|
Cataract, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia, Hypothyr... |
ORPHA:254913 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Long philtrum, Abnormal heart morphology, Limited elbow extension and supination, Cr... |
ORPHA:401935 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... |
OMIM:617300 |
Chime Syndrome |
|
Acute leukemia, Ventricular septal defect, Short foot, Hip dislocation, Aplasia/Hypoplasia of the... |
ORPHA:3474 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Short foot, Upper limb undergrowth |
ORPHA:166277 |
Scarf Syndrome |
|
Long philtrum, Umbilical hernia, Bifid scrotum, Diastasis recti, Inguinal hernia, Cryptorchidism,... |
OMIM:312830 |
Eem Syndrome |
|
Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab... |
ORPHA:1897 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Genu valgum, Narrow mouth, Brachydactyly, Short phalanx of finger... |
OMIM:132450 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... |
OMIM:601808 |
Cri-Du-Chat Syndrome |
|
Bifid uvula, Cataract, Microretrognathia, Downturned corners of mouth, Thick lower lip vermilion,... |
OMIM:123450 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Palmoplantar keratoderma, Delayed eruption of teeth, Enamel hypoplasia |
OMIM:616029 |
Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Myo... |
ORPHA:36234 |
Doors Syndrome |
|
Aspiration pneumonia, Short lingual frenulum, Open mouth, Adrenal hyperplasia, Aplasia/Hypoplasia... |
ORPHA:79500 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High pala... |
OMIM:607872 |
Rett Syndrome |
|
Short foot, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Brachydactyly, Syndactyly |
OMIM:616589 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Narrow chest, Microretrognathia, Natal tooth, Cleft lip, Unicoronal syn... |
OMIM:616300 |
Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption, Supraumbilical raphe |
OMIM:606893 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Median cleft upper lip, Microcepha... |
OMIM:615465 |
Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... |
ORPHA:79239 |
Laurence-Moon Syndrome |
|
Cataract, Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Displace... |
ORPHA:2377 |
Meacham Syndrome |
|
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... |
OMIM:608978 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Abnormal denta... |
ORPHA:2251 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Wide nasal bridge, Choanal atresia, Narrow chest, Cleft lip, Hearing impairment, Delayed eruption... |
OMIM:619148 |
Neuroocular Syndrome 1 |
|
Ankyloglossia, Torus palatinus, Lens coloboma, Brushfield spots, Iris coloboma, Hyperextensibilit... |
OMIM:619539 |
Hallermann-Streiff Syndrome |
|
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Hi... |
OMIM:234100 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Cardiomyopathy, Bundle bra... |
ORPHA:93672 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, V... |
ORPHA:2256 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Depressed nasal ridge, Thin ribs, 11 pairs of ribs, Decreased skull ossification, M... |
OMIM:300863 |
Scrub Typhus |
|
Hypotension, Splenomegaly, Skin rash, Infectious encephalitis, Hyperhidrosis, Myocarditis, Anteri... |
ORPHA:83317 |
Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Micrognathia, Na... |
ORPHA:90652 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
High, narrow palate, Narrow mouth, Tented upper lip vermilion, Knee flexion contracture, Single t... |
OMIM:618076 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval |
ORPHA:71212 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Failure to thrive |
OMIM:610131 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis... |
ORPHA:2908 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Palmoplantar blistering, Atrophic scars, Vaginal stricture, Oral mucosal blisters,... |
ORPHA:79409 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Narrow chest, Microretrognathia, Conductive hearing impairment, Hearing impairment, T... |
OMIM:616229 |
Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... |
ORPHA:1263 |
Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Carious teeth, Skeletal muscle atrophy, Subdural hemorrhage, ... |
ORPHA:90324 |
Walker-Warburg Syndrome |
|
Bifid uvula, Cataract, Microcornea, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... |
ORPHA:899 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... |
ORPHA:70591 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Monosomy 5P |
|
Small hand, Microretrognathia, Finger syndactyly, Inguinal hernia, High palate |
ORPHA:281 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... |
OMIM:617102 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Midface retrusion, Anteverted nares, Persistence of primary teet... |
OMIM:610253 |
Wrinkly Skin Syndrome |
|
Low-set ears, Wide nasal bridge, Osteopenia, Carious teeth, Microretrognathia, Delayed eruption o... |
OMIM:278250 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm, Micrognat... |
ORPHA:1052 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Epiphyseal stippling, Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture |
OMIM:118650 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
Acrocardiofacial Syndrome |
|
Hypospadias, Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralo... |
ORPHA:2008 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Pulmonary edema... |
ORPHA:90068 |
Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa... |
ORPHA:1692 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Contracture of the ... |
OMIM:300166 |
46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Telangiectasia of the skin, Hydrocele testis |
ORPHA:276280 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micrognathia, Bell-shaped thorax, Anterior rib cupping, High palate, Short nose, Depressed nasal ... |
OMIM:271665 |
Achondrogenesis, Type Ia |
|
Low-set ears, Depressed nasal bridge, Hypoplastic nasal bridge, Unossified vertebral bodies, Hypo... |
OMIM:200600 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... |
OMIM:600987 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Solitary median maxil... |
ORPHA:952 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Calvarial hyperostosis |
OMIM:112350 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... |
ORPHA:31826 |
Apert Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Conductive hearing impairment... |
ORPHA:87 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... |
OMIM:617021 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Clitoral hypertrophy, Micrognathia, Congenital diaphragmatic hernia, Mitral regurgitation, Mitral... |
ORPHA:2556 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Tooth malposition, Hyphema, Ectopia pupillae, Recurrent otitis media, Long... |
ORPHA:261552 |
Zttk Syndrome |
|
Low-set ears, Narrow mouth, High palate, Short nose, Hypoplasia of the maxilla, Midface retrusion... |
OMIM:617140 |
Sotos Syndrome |
|
Low-set ears, Depressed nasal bridge, Mandibular prognathia, Broad nasal tip, Conductive hearing ... |
OMIM:117550 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Cataract, Rhizomelia, Microcornea, Long philtrum, Ectopia pupillae, 2-3 toe s... |
OMIM:615877 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Long philtrum, Widely spaced teeth, Recurrent otitis media, Tented upper lip v... |
OMIM:619762 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ... |
OMIM:250220 |
Charcot-Marie-Tooth Disease Type 1E |
|
Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hyporeflexia of u... |
ORPHA:90658 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Arachnodact... |
ORPHA:567 |
Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon... |
OMIM:601559 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
De Barsy Syndrome |
|
Congenital hip dislocation, Cataract, Delayed eruption of teeth, Decreased muscle mass, Umbilical... |
ORPHA:2962 |
2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Ventr... |
ORPHA:251014 |
Developmental And Epileptic Encephalopathy 41 |
|
Microcephaly, Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Trun... |
OMIM:615415 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Single transverse palmar crease... |
OMIM:614701 |
Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Congestive heart failure, Episclerit... |
ORPHA:727 |
Meier-Gorlin Syndrome 4 |
|
Low-set ears, Hypoplasia of the maxilla, Lateral clavicle hook, Thick lower lip vermilion, Microg... |
OMIM:613804 |
Stickler Syndrome Type 2 |
|
Cataract, Cleft palate, Corneal opacity |
ORPHA:90654 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
Kbg Syndrome |
|
Finger clinodactyly, Long philtrum, Congenital malformation of the left heart, Macrodontia, Crypt... |
ORPHA:2332 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Wide mouth, Cryptorchidism, Cubitus valgus, Arrhythmia, Atrial septa... |
OMIM:611553 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Evert... |
ORPHA:181 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventricular cavity, Thickened ... |
ORPHA:85438 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Growth delay, Abnormality of th... |
ORPHA:300298 |
3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Cataract, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal ... |
ORPHA:251038 |
Kabuki Syndrome 2 |
|
Low-set ears, Broad nasal tip, Cupped ear, Hearing impairment, Natal tooth, Dental malocclusion, ... |
OMIM:300867 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Clinodactyly, Downturned corners of mouth, Cardiomyopathy, Micrognathia, Cryptorchid... |
OMIM:217980 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Hypoplasia of the iris, Recurrent otitis media, Splenomegaly, Autoimmune hem... |
OMIM:612783 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Smooth tongue, Atrophic scars, Distal lower limb amyotrophy, Oral mucos... |
ORPHA:79396 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Ectopia pupillae, Micrognathia, Cryptorchidism, Ventricular septal defect,... |
OMIM:194190 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Aortic regurgitation, Aortic dissection, Camptodactyly of finger, Abnormal h... |
ORPHA:284984 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Cataract, Postaxial foot polydactyly, Astigmatism, Polydactyly, Postaxial... |
OMIM:615986 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... |
ORPHA:81 |
Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Muscular ventricular septal defect, Decr... |
OMIM:157800 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic... |
OMIM:300887 |
Craniofrontonasal Dysplasia |
|
Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Congenital ... |
ORPHA:1520 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Abnormality of the dentition, Recurrent pneumonia, Atopic dermatitis, Eczematoid dermatitis, Cuta... |
OMIM:618282 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Radioulnar s... |
ORPHA:798 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide nasal bridge, High, narrow palate, Preauricular skin tag, Retrognathia, Long philtrum, Contr... |
ORPHA:96092 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... |
OMIM:122880 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal heart morphology, Tachycardia |
ORPHA:79264 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Micrognathia, Malar flatten... |
OMIM:108721 |
Stickler Syndrome |
|
Hearing impairment, Open bite, Micrognathia, Sensorineural hearing impairment, Short hard palate,... |
ORPHA:828 |
Dextrocardia |
|
Congenital hip dislocation, T-wave inversion, Abnormal EKG |
ORPHA:1666 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, Hypodontia, Sc... |
ORPHA:59303 |
Pyknoachondrogenesis |
|
Low-set ears, Depressed nasal ridge, Craniofacial hyperostosis, Abnormal intramembranous ossifica... |
ORPHA:3003 |
ERI1-related disease |
|
Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Tricuspid regurgitation, Clinoda... |
OMIM:608739 |
7Q31 Microdeletion Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Long philtrum, Childhood onset sensorineural hearing imp... |
ORPHA:251061 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Joint contracture of the hand, Clitoral hypertrophy, Abnormal heart morphology, Microgn... |
OMIM:214110 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Hearing impair... |
ORPHA:2588 |
Kapur-Toriello Syndrome |
|
Cataract, Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, O... |
OMIM:244300 |
Robinow Syndrome |
|
Tooth malposition, Small scrotum, Ankyloglossia, Micrognathia, Marked delay in eruption of perman... |
ORPHA:97360 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial head dislocati... |
OMIM:610967 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Hypospadias, Abnormality of frontal sinus, Short thumb, Overlapping toe, Mic... |
ORPHA:436003 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... |
OMIM:619745 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, C... |
ORPHA:391487 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... |
ORPHA:3210 |
Ruvalcaba Syndrome |
|
Small hand, Dental crowding, Micromelia, Limited elbow extension, Inguinal hernia, Cryptorchidism... |
OMIM:180870 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Low-set ears, Depressed nasal bridge, Natal tooth, Micrognathia, Sagittal craniosynostosis |
OMIM:616901 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis... |
OMIM:618397 |
Silver-Russell Syndrome 3 |
|
Small hand, Retrognathia, Elbow contracture, Unilateral cryptorchidism, Ambiguous genitalia, Peno... |
OMIM:616489 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, Elbow ankylosis, Abnormal fing... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Osteopenia, Narrow chest, Long philtrum, Hearing abnormality, Decrease... |
OMIM:610682 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... |
OMIM:609441 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypertension |
ORPHA:757 |
Wagr Syndrome |
|
Cataract, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of the urethral m... |
ORPHA:893 |
Dubowitz Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Hearing impairment, Delayed eruption of tee... |
ORPHA:235 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Pathologic fracture, Intermittent claudication, Rayna... |
OMIM:259900 |
Triploidy |
|
Iris coloboma, Cataract, Hypospadias, Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidi... |
ORPHA:3376 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Midface retrusion, Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard pal... |
OMIM:619122 |
Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Cryptorchidism, Hypohidrosis, Testicular neoplasm, Palmar hyperlinearit... |
OMIM:308100 |
Mosaic Monosomy X |
|
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic left heart, Webbed neck, Female infertility, Lymphedema, Abnormality of the ovary, In... |
ORPHA:99413 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... |
ORPHA:244 |
Kleefstra Syndrome |
|
Limitation of joint mobility, Delayed eruption of teeth, Hearing impairment, Downturned corners o... |
ORPHA:261494 |
Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nippl... |
OMIM:601803 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Finger syndactyl... |
ORPHA:2994 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Microdontia, A... |
ORPHA:231178 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pineal cyst, Secondary amenorrhea, Pulmonic stenosis |
ORPHA:529962 |
Microphthalmia, Lenz Type |
|
Abnormality of the dentition, Preauricular skin tag, Abnormal clavicle morphology, Delayed erupti... |
ORPHA:568 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Talipes equin... |
OMIM:610168 |
Lymphatic Malformation 13 |
|
Long philtrum, Mitral regurgitation, Patent foramen ovale, Smooth philtrum, Pulmonary arterial hy... |
OMIM:620244 |
Limb-Mammary Syndrome |
|
Bifid uvula, Joint contracture of the hand, Hypodontia, Hypoplastic nipples, Hallux valgus, Hypoh... |
OMIM:603543 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Iris coloboma, Microcornea, Microglossia, Camptodactyly... |
ORPHA:2839 |
White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect |
OMIM:277740 |
Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hypotension with com... |
ORPHA:85443 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Hearing impairment, Underdeveloped nasal alae, Cleft mandibl... |
ORPHA:364577 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Cerebral ischemia, Hand polydactyly, Arrhythmia, Telangiectasi... |
ORPHA:60040 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T... |
OMIM:620250 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Irregular carpal bones, Inguinal... |
OMIM:252600 |
Otopalatodigital Syndrome, Type I |
|
Wide nasal bridge, Conductive hearing impairment, Synostosis of carpal bones, Selective tooth age... |
OMIM:311300 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Bifid uvula, Decreased muscle mass, Camptodactyly of finger, Ulnar de... |
OMIM:114300 |
Isolated Exencephaly |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo... |
ORPHA:563612 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Arrhy... |
ORPHA:3386 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Taurodontia, Pulp calcification, Enamel hypoplasia, Conjunctival whitish sal... |
OMIM:211900 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Cleft lip, Sandal gap, Downturned corners of mouth, Abnormal hear... |
ORPHA:217017 |
Hereditary Coproporphyria |
|
Tachycardia, Proximal muscle weakness in upper limbs |
ORPHA:79273 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Umbilical hernia, Splenomegaly, Inguinal hernia, Corneal opacity, Flexio... |
ORPHA:87876 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Cataract, Downturned corners of mouth, Long phi... |
OMIM:220500 |
Proximal Spinal Muscular Atrophy |
|
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Bradycardia, Fl... |
ORPHA:70 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Rhizomelia, Bowing of the arm, Bowing of the legs |
OMIM:301014 |
Encephalitis Lethargica |
|
Stiff neck, Bradycardia |
ORPHA:83600 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Cranial hyperostosis, Oligodontia, Hypodontia, Relative macrocephaly |
OMIM:601345 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Elbow dislocation, Abnormal dental enamel morphology, Abnormal hip bone morphology, Bilateral sin... |
ORPHA:3236 |
Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Failure to thrive, Wolff-Parkinso... |
OMIM:618378 |
Monosomy 9Q22.3 |
|
Low-set ears, Delayed eruption of teeth, Long philtrum, Macrocephaly, Narrow mouth, Joint hypermo... |
ORPHA:77301 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Ing... |
ORPHA:217085 |
Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Velopharyngeal insufficiency, Tetralogy of Fallot, Micr... |
OMIM:619325 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Choanal atresia, Rib exostoses, Abnormality of the dentition, Natal tooth, T... |
ORPHA:2108 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Aspiration pneumonia, Genu valgum, Abnormal mitral valve morphology, C... |
ORPHA:581 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... |
OMIM:610706 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Long philtrum, Recurrent otitis media, Micrognathia, Oligodontia, Smooth philtrum, Cor... |
OMIM:602562 |
Infantile Refsum Disease |
|
Cataract, Failure to thrive, Cardiomyopathy, Arrhythmia, Facial palsy |
ORPHA:772 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... |
OMIM:307800 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Long philtrum, Gingival overgrowth, Protruding tongue, Patent foramen ovale |
OMIM:619179 |
Tularemia |
|
Pneumonia, Cutaneous abscess, Leukocytosis, Otitis media, Oral ulcer, Skin rash, Conjunctival hyp... |
ORPHA:3392 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormal dental en... |
ORPHA:1005 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Primary adrenal insuff... |
OMIM:530000 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome |
OMIM:618234 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnormal thumb morphology... |
ORPHA:1825 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa... |
ORPHA:1071 |
Peters Plus Syndrome |
|
Toe syndactyly, Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Short foot, Iris coloboma... |
ORPHA:709 |
Systemic Sclerosis |
|
Intestinal bleeding, Finger swelling, Narrow mouth, Telangiectasia, Glomerulonephritis, Recurrent... |
ORPHA:90291 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Acne, Broad thumb, Synostosis of carpal bones, Finger syndactyly... |
OMIM:101200 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Bilateral cryptorchidism, Hip d... |
ORPHA:466722 |
Ring Chromosome 22 Syndrome |
|
Azoospermia, Growth delay |
ORPHA:1446 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Arthrogryposis mult... |
OMIM:226730 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy |
OMIM:614300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Ventricular septal defect |
OMIM:619103 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
Aymé-Gripp Syndrome |
|
Reduced arm span, Megalocornea, Narrow mouth, Congenital diaphragmatic hernia, Cryptorchidism, Ra... |
ORPHA:1272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Open mouth, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali... |
OMIM:301039 |
Isolated Arrhinia |
|
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... |
ORPHA:1134 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Carious teeth, Decreased skull ossification, Calvarial osteosclerosis, Long clavicles,... |
OMIM:244460 |
Legionnaires Disease |
|
Cellulitis, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Arrhythmi... |
ORPHA:549 |
Pituitary Apoplexy |
|
Hypotension, Mydriasis, Impotence, Increased circulating cortisol level, Increased circulating pr... |
ORPHA:95613 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Ing... |
ORPHA:217093 |
Cerebrocostomandibular Syndrome |
|
Low-set ears, Carious teeth, Micrognathia, Cleft soft palate, Bell-shaped thorax, Short hard pala... |
OMIM:117650 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Abnormal atrioventricular conduction,... |
ORPHA:732 |
Alzahrani-Kuwahara Syndrome |
|
Cataract, Coronary sinus enlargement, Eczematoid dermatitis, Long philtrum, Micrognathia, Astigma... |
OMIM:619268 |
Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Failure to thrive, Hyperinsulinemia, Premature ovarian insufficiency,... |
ORPHA:79237 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Pneumonia, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Mac... |
ORPHA:309288 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Cardiomyopathy, Increased circulating prolactin concen... |
OMIM:102200 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal EKG |
ORPHA:480864 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Muscular dystrophy, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Reduced ... |
ORPHA:370959 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Abnormal palate morphology, Joint hypermobility, Deep philtrum... |
ORPHA:2475 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Or... |
ORPHA:32960 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hernia, Smooth philtrum, Ventricular septal defect, Leukemia, Syndactyly |
OMIM:602501 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis, Abnormali... |
ORPHA:3194 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I... |
ORPHA:91131 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Abnormal cardiac ventricle morphology, Ectopia lentis, Megalocornea, Tricusp... |
ORPHA:284979 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Conductive hearing impairment... |
ORPHA:3238 |
Bloom Syndrome |
|
Growth delay, Azoospermia, Intrauterine growth retardation, Telangiectasia, Severe postnatal grow... |
ORPHA:125 |
Trisomy X |
|
Precocious puberty, Premature ovarian insufficiency, Ventricular septal defect, Atrial septal def... |
ORPHA:3375 |
Behçet Disease |
|
Mitral regurgitation, Oral ulcer, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal ... |
ORPHA:117 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Broad thumb, Toe syndactyly, Retrognathia, Long philtrum, Overlapping toe, Cryptorchidism, Ventri... |
ORPHA:505237 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Thick vermilion border, Open mouth, Exaggerated cupid's bow, Hypertension,... |
OMIM:300896 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Tricuspid regurgitation, Micr... |
ORPHA:73223 |
Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op... |
ORPHA:1507 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Abnormal dental morphology, Corneal opacity, Abnormal finger morphology, Abno... |
OMIM:163200 |
Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Bilateral cryptorchidism, Hypoplasia of the capital femoral epiphysis,... |
OMIM:242900 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Eczematoid dermatit... |
OMIM:619721 |
Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... |
ORPHA:1946 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Xk Aprosencephaly Syndrome |
|
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... |
ORPHA:3469 |
Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male urethral meatus stenos... |
OMIM:613406 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ... |
OMIM:608612 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Retrognathia, Increased circulating prolactin concentration, Aspiration pneum... |
ORPHA:438213 |
Larsen Syndrome |
|
Elbow dislocation, Cleft upper lip, Accessory carpal bones, Malar flattening, Cryptorchidism, Ven... |
OMIM:150250 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG |
ORPHA:230 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Microcornea, Abnormally prominent line of Schwalbe, Megalocornea, Ecto... |
OMIM:180500 |
Restrictive Dermopathy 1 |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankyl... |
OMIM:275210 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Hypertrop... |
OMIM:619121 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Ovarian cyst |
OMIM:618188 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Long philtrum, Recurrent otitis media, Long hallux, Cont... |
OMIM:605130 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Multiple Pterygium Syndrome, X-Linked |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Cleft upper lip, Micrognathia, Increased suscepti... |
OMIM:312150 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Leukocytosis, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, Decreased fertility,... |
ORPHA:3138 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Joint hypermobility, Sinus bradycardia |
OMIM:261990 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... |
ORPHA:1354 |
Ellis-Van Creveld Syndrome |
|
Common atrium, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption ... |
OMIM:225500 |
Scheie Syndrome |
|
Aortic regurgitation, Thick vermilion border, Splenomegaly, Everted lower lip vermilion, Corneal ... |
ORPHA:93474 |
Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Abnor... |
ORPHA:903 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hypermobility, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Anemia, Oligoa... |
ORPHA:31205 |
Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnorma... |
ORPHA:648 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Osteogenesis Imperfecta |
|
Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Mitral valve prolapse, Bowin... |
ORPHA:666 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... |
OMIM:614527 |
Ablepharon-Macrostomia Syndrome |
|
Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplasia of t... |
OMIM:200110 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment |
OMIM:606943 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Barber-Say Syndrome |
|
Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, High palate, Wide n... |
OMIM:209885 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Carious teeth, Retrognathia, Bifid scrotum, Overlapping toe, Micrognathia, Cutaneous finger synda... |
OMIM:613026 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... |
OMIM:608670 |
Campomelic Dysplasia |
|
Low-set ears, Thin ribs, Delayed epiphyseal ossification, Carious teeth, Hypoplastic scapulae, He... |
OMIM:114290 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... |
OMIM:618935 |
Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... |
OMIM:232300 |
Genitopatellar Syndrome |
|
Low-set ears, Delayed eruption of teeth, Hearing impairment, Long philtrum, Prominent nose, Micro... |
ORPHA:85201 |
Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long philtrum, Short ... |
OMIM:190351 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Arthritis |
ORPHA:375 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Choanal atresia, Depressed nasal bridge, Bifid uvula, Natal tooth, Atresia of the external audito... |
OMIM:123790 |
Al-Gazali Syndrome |
|
Broad distal phalanx of finger, Recurrent pneumonia, Micrognathia, Wrist flexion contracture, Bow... |
OMIM:609465 |
Wolfram Syndrome 1 |
|
Cataract, Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus |
OMIM:222300 |
X Small Rings |
|
Toe syndactyly, Long philtrum, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, P... |
ORPHA:96201 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... |
ORPHA:464343 |
Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Tetralogy of Fallot, Astigmatism, Cryptorchidism, Ventricular septal defect, Short c... |
OMIM:617159 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis,... |
ORPHA:69085 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... |
OMIM:132400 |
Congenital Myopathy 22B, Severe Fetal |
|
Low-set ears, Thin ribs, Micrognathia, Hip contracture, High palate, Short nose, Thoracic hypopla... |
OMIM:620369 |
Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Xerostomia, Finger syndactyly, Open bite, Ankyloglossia, Narrow mouth, Pustule... |
ORPHA:2907 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Congenital diaphragmatic her... |
OMIM:265000 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Limited elbow movement, Ventricular sep... |
OMIM:610759 |
Distal Duplication 5Q |
|
Carious teeth, Absent thumb, Eczematoid dermatitis, Long philtrum, Chorioretinal coloboma, Microg... |
ORPHA:96097 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
Mosaic Trisomy 8 |
|
Narrow chest, Broad nasal tip, Limitation of joint mobility, Hearing impairment, Arthrogryposis m... |
ORPHA:96061 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Sho... |
OMIM:614230 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... |
OMIM:618986 |
Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Sandal gap, Thick lower lip vermilion, Arachnodactyly, Thin upper... |
OMIM:616938 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Right bundle branch block, Joint hypermobility |
OMIM:618590 |
Developmental And Epileptic Encephalopathy 100 |
|
Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Sing... |
OMIM:619777 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Megalocornea, Progressive alveolar rid... |
OMIM:252500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Decreased muscle mass, Micrognathia, Narrow mouth, Cryptorchidism, Esophagitis, Hyp... |
ORPHA:96182 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Epididym... |
ORPHA:1304 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Dentinogenesis imperfecta, Pseudoarthrosis, Slender long bone |
OMIM:619795 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Cardiomyopathy, Amenorrhea |
OMIM:604250 |
Trisomy 1Q |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Microretrognathia, Short thor... |
ORPHA:261344 |
Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th... |
OMIM:620609 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... |
OMIM:128980 |
Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Co... |
OMIM:614188 |
Hypophosphatasia |
|
Abnormality of the dentition, Narrow chest, Abnormal rib morphology, Craniosynostosis, Recurrent ... |
ORPHA:436 |
Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Mi... |
ORPHA:1765 |
Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Atypical scarring of skin, Nuclear cataract, Skeletal muscle atrop... |
OMIM:601701 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Congenital hypothyroidism, Mitral regurgitation, Decreased circulating free T4 concentration, Dec... |
OMIM:225250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism... |
OMIM:300998 |
Turnpenny-Fry Syndrome |
|
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Mitral valve prolapse, Atrial septal def... |
OMIM:618371 |
Tyshchenko Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
Wilson Disease |
|
Proximal muscle weakness in lower limbs, Hepatitis, Kayser-Fleischer ring, Abnormality of the men... |
ORPHA:905 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Eczematoid dermatitis, Breast hypopl... |
ORPHA:464306 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Sandal gap, Short toe, Short 5th metacarpal, Arrhythmia, Paroxysmal supraventricular tachycardia,... |
OMIM:617877 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Short tibia, Polydactyly, Median cleft upper lip, High palate, Cl... |
OMIM:300484 |
Isolated Osteopoikilosis |
|
Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvi... |
ORPHA:166119 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... |
OMIM:614921 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent pneumonia, Dental crowding, Umbilical hernia, Persistence of hemoglobin F, Persistence ... |
OMIM:619769 |
Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,... |
OMIM:609638 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Depressed nasal bridge, Short thorax, Long philtrum, Camptodactyly of finger, Low-set, posteriorl... |
ORPHA:2311 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Single transverse palmar ... |
OMIM:617061 |
Refsum Disease, Classic |
|
Cataract, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia |
OMIM:266500 |
Coffin-Siris Syndrome 6 |
|
High, narrow palate, Clinodactyly, Retrognathia, Micrognathia, Deep philtrum, Brachydactyly, Atri... |
OMIM:617808 |
Liver Disease, Severe Congenital |
|
Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, Ventricular septal de... |
OMIM:619991 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers... |
OMIM:615418 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th... |
OMIM:618974 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Dysplasia of the femoral head, Micrognathia, Mitral valve prolapse, Arachnodactyly... |
ORPHA:536467 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
Borjeson-Forssman-Lehmann Syndrome |
|
Small scrotum, Cataract, Skeletal muscle atrophy, Hypogonadism, Decreased testicular size, Crypto... |
ORPHA:127 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Mitr... |
ORPHA:93932 |
Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... |
ORPHA:590 |
Frontorhiny |
|
Preauricular skin tag, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly r... |
ORPHA:391474 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Downturned corners of mouth, Adrenal insufficiency, Hypohidrosis, Achalasia, Orthostatic hypotens... |
OMIM:615510 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis |
ORPHA:391428 |
3Mc Syndrome 3 |
|
Clinodactyly, Cleft upper lip, Preaxial polydactyly, Bifid scrotum, Diastasis recti, Cryptorchidi... |
OMIM:248340 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Hypoplasia of the iris, Micrognathia, Open mouth, Metatarsus valgus, Astigmatism, S... |
ORPHA:2479 |
Felty Syndrome |
|
Cellulitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, Splenomegaly, Syno... |
ORPHA:47612 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Retrognathia, Long philtrum, Overlapping toe, Cryptorchidism, Down-sloping shoulders... |
OMIM:617452 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Insulin-resistant diabetes ... |
ORPHA:769 |
Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Skeletal muscle atrophy |
ORPHA:2400 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger sy... |
ORPHA:158687 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... |
ORPHA:2399 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Death in infancy, Neonatal death, Bradycardia, Growth delay |
OMIM:617248 |
Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Graves disease, Obesity, Palpitations, Shortened PR interva... |
ORPHA:79102 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... |
OMIM:616564 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... |
ORPHA:324410 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Ve... |
OMIM:613680 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Inguinal hernia, Cryptorchidism, Pulmonary arterial hypertension, Atrial septal def... |
OMIM:614857 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Pulmonary artery stenosis, Aortic regurgitation, Abnormal cardiac septum morphology |
ORPHA:140952 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Midface retrusion,... |
OMIM:182290 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Testi... |
OMIM:601163 |
Alpha-Mannosidosis, Infantile Form |
|
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Mitral regurgit... |
ORPHA:309282 |
Gorlin Syndrome |
|
Wide nasal bridge, Carious teeth, Abnormal rib morphology, Macrocephaly, Abnormality of the sense... |
ORPHA:377 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... |
OMIM:231550 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Bradycardia, Tachycardia, Small for gestational age |
ORPHA:90051 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Micrognathia, Short philtrum, Wide mouth, Short nose |
ORPHA:163966 |
Sarcoidosis |
|
Cataract, Diabetes insipidus, Parotitis, Enlargement of parotid gland, Portal hypertension, Abnor... |
ORPHA:797 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Failure to thrive, Hypertrophic cardiomyopathy, Cryptorchidism, Neonatal death, Hyperte... |
OMIM:614052 |
Mucopolysaccharidosis-Plus Syndrome |
|
Chorioretinal hypopigmentation, Nephritis, Recurrent pneumonia, Congestive heart failure, Hypertr... |
OMIM:617303 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... |
OMIM:146510 |
Fucosidosis |
|
Abnormality of the dentition, Decreased muscle mass, Cardiomegaly, Hypothyroidism, Hyperhidrosis,... |
ORPHA:349 |
Cornelia De Lange Syndrome 6 |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Lo... |
OMIM:620568 |
Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Skin rash, Cerebral edema... |
ORPHA:319213 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Skeletal muscle atrophy, Long philtrum, Wide distal femoral metaphysis... |
OMIM:614856 |
3Mc Syndrome 2 |
|
Wide nasal bridge, Hearing impairment, Downturned corners of mouth, Cleft upper lip, Depressed na... |
OMIM:265050 |
Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural... |
ORPHA:2315 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... |
OMIM:613795 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
Viss Syndrome |
|
Genu valgum, Cleft soft palate, Micrognathia, Mitral valve prolapse, Contracture of the proximal ... |
OMIM:619472 |
Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
Lethal Kniest-Like Dysplasia |
|
Low-set ears, Narrow chest, Short ribs, Anterior rib cupping, Macrocephaly, Wide anterior fontane... |
ORPHA:2347 |
Koolen-De Vries Syndrome |
|
Open mouth, Cryptorchidism, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, Everte... |
OMIM:610443 |
Isolated Klippel-Feil Syndrome |
|
Hearing impairment, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel anoma... |
ORPHA:2345 |
Myhre Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Cleft lip, Limitation of joint mobility, Hearing impairm... |
OMIM:139210 |
Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth |
ORPHA:1656 |
W Syndrome |
|
Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Submucous cleft hard ... |
ORPHA:2804 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Long philtrum, Thick lower lip vermilion, Inguinal hernia, Deep palmar crease, Brachydactyly, Gen... |
OMIM:619451 |
Syndromic Diarrhea |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... |
ORPHA:84064 |
Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Median pseudocleft lip, Recurrent otitis media, Micrognathia, Cryptorc... |
OMIM:616462 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Leukocoria, Short lower limbs, Hypertension, Bowing of the legs |
OMIM:219250 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Micrognathia, Narrow mouth, Missing ribs, Orofacial cleft,... |
ORPHA:3301 |
Prader-Willi Syndrome |
|
Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased muscle mass, Genu valgum, Crypt... |
OMIM:176270 |
Burn-Mckeown Syndrome |
|
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Inguinal hernia, Ventricular septal def... |
OMIM:608572 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydac... |
OMIM:620072 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Muscular dystrophy, Corneal opacity |
OMIM:613153 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral cleft palate, Ventricular septal ... |
OMIM:301068 |
Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:180860 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,... |
OMIM:611962 |
Hennekam Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal oral mucosa morphology, Conduct... |
ORPHA:2136 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Xerostomia, Leukopenia, Splenomegaly, Skin rash, Myositis, Gastritis... |
ORPHA:809 |
Collagenoma, Familial Cutaneous |
|
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
Mandibuloacral Dysplasia |
|
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... |
ORPHA:2457 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrioventricular block, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, ... |
ORPHA:93317 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... |
OMIM:619534 |
Phacoanaphylactic Uveitis |
|
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... |
ORPHA:209959 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Lower limb hypertonia, Hepatosplenomegaly, Hemolytic anemia, Portal hypertens... |
OMIM:619487 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
Congenital Enterovirus Infection |
|
Hypotension, Hepatitis, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology,... |
ORPHA:292 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu val... |
OMIM:619143 |
Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Microdontia, Aplasia/Hypoplasia of the abdominal wall musculature, Ever... |
ORPHA:578 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Hypospadias, Short uvula, Micromelia, Agene... |
OMIM:614091 |
Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Microretrognathia, Retrognathia, Tricuspid regurgitation, Micrognathi... |
OMIM:619879 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Hernia, Talipes equinovarus, Adducted thumb, Developmental cataract, Cornea... |
OMIM:616603 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Relapsing Fever |
|
Tachycardia, Hypotension, Epistaxis |
ORPHA:91547 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Atrial septal defect, High palate, P... |
OMIM:609625 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Supernumerary nipple, Inguinal hernia, Astigmatism, Cryptorchidism... |
OMIM:618109 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... |
OMIM:268305 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Situs inversus totalis, Immotile sperm, Absent inner dynein arms, Absent outer ... |
OMIM:614874 |
Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Wide nasal base, Osteopenia, Broad nasal tip, Broad columella, Retrognathia, Depressed nasal tip,... |
ORPHA:488434 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi... |
OMIM:271640 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla... |
ORPHA:1439 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Absent vertebral body mineralization, Horizontal ribs, Barrel-s... |
OMIM:200610 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Bilateral... |
OMIM:106260 |
Miller-Dieker Lissencephaly Syndrome |
|
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick ... |
OMIM:247200 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... |
OMIM:186500 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cataract, Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Go... |
ORPHA:254892 |
Congenital Fibrosis Of Extraocular Muscles |
|
Finger aplasia, Cataract, Congenital fibrosis of extraocular muscles, Abnormal pupil shape, Hypog... |
ORPHA:45358 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Cataract, Failure to thrive, Cryptorchidism, Astigmatism, Decreased body weight, V... |
OMIM:617164 |
Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Micrognathia, Increased susceptibility to fractur... |
OMIM:253290 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Low-set ears, Depressed nasal bridge, Thin ribs, Broad nasal tip, Midface retrusion, Anteverted n... |
OMIM:300232 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hypoplasia of the ... |
ORPHA:1826 |
Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Secondary microcephaly, Pr... |
OMIM:105830 |
Refsum Disease |
|
Cataract, Abnormal epiphysis morphology, Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, H... |
ORPHA:773 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Bdv Syndrome |
|
Central hypothyroidism, Micrognathia, Cryptorchidism, Decreased circulating free T4 concentration... |
OMIM:619326 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Abnormality of the uterus, Tetralogy of Fallot, Decreased testicular ... |
ORPHA:2970 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hypoplasia of the maxilla, Micrognathia, Hearing impairment |
OMIM:301108 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Situs inversus totalis, Male infertility |
OMIM:612444 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... |
ORPHA:363618 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Narrow chest, Anteverted nares, Micrognathia, Hyperostosis, Abnormal thorax morphology... |
ORPHA:73230 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Macrocephaly, Abnormal palate morphology, Abnormal rib morphology |
ORPHA:1506 |
Goldberg-Shprintzen Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge,... |
OMIM:609460 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Inguinal hernia, Single transverse palmar crease, Shortened PR interval, Ventricular ... |
OMIM:614947 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Thin upper lip vermilion, Oligodontia, Atrial septal defect, Hypospadi... |
OMIM:618330 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypospadias, Cleft lip, Dental malocclusion, Inguinal hernia, Cryptorchidism, Hypogonad... |
OMIM:603457 |
Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Female pseudo... |
ORPHA:1519 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto... |
DECIPHER:39 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Median cleft upper lip, Iris coloboma, Cleft palate |
ORPHA:3374 |
Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Odontoma |
ORPHA:2724 |
Juvenile Sialidosis Type 2 |
|
Cataract, Umbilical hernia, Abnormal heart morphology, Hepatosplenomegaly, Gingival overgrowth, I... |
ORPHA:93399 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... |
OMIM:221900 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Cryptorchidism, Atrial septal defect, Long philtrum |
ORPHA:466926 |
Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Enlarged labia mino... |
OMIM:268300 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Roberts Syndrome |
|
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas... |
ORPHA:3103 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... |
ORPHA:2255 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... |
OMIM:143095 |
Meier-Gorlin Syndrome 5 |
|
Low-set ears, Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate... |
OMIM:613805 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... |
ORPHA:369929 |
Kawasaki Disease |
|
Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:2331 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic facial bones, Hypoplastic scapulae, Pectus carinatum, Limitation of joint mobility, F... |
OMIM:223800 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Persistence of primary teeth, Increased susceptibil... |
OMIM:619752 |
Zimmermann-Laband Syndrome 1 |
|
Low-set ears, Wide nasal bridge, Mandibular prognathia, Broad nasal tip, Hearing impairment, Dela... |
OMIM:135500 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Clitoral hypertrophy, Hepatosplenomegaly, Micrognathia, Mitral regurgitation, Cryptorchidism, Ven... |
OMIM:614866 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Supravalvular ao... |
OMIM:219100 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidi... |
OMIM:612651 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... |
OMIM:253300 |
Intellectual Disability-Strabismus Syndrome |
|
Abnormality of the dentition, Joint contracture of the hand, Hypospadias, Decreased response to g... |
ORPHA:363528 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Temporoma... |
ORPHA:580 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Secondary microce... |
ORPHA:476126 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Micrognathia, Bilateral single transverse palmar creases, Ventricular septal... |
ORPHA:1913 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Congestive heart failure, Tented upper lip vermilion, Open mouth, Atrial s... |
ORPHA:500533 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Recurrent otit... |
OMIM:235730 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Thick lower lip vermilion, Abnormal heart valve morphology, Genu valgum, Sp... |
ORPHA:583 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Arachnodactyly, Tali... |
ORPHA:280 |
Blau Syndrome |
|
Cataract, Flexion contracture of toe, Band keratopathy, Uveitis, Nongranulomatous uveitis, Eczema... |
OMIM:186580 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... |
OMIM:609152 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimu... |
OMIM:618096 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Delayed eruption of teeth, Hearing impairment, Macrocephaly, Premature loss of prim... |
ORPHA:667 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Cataract, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Episodic hemolytic anemia, Membranoproliferative glomeruloneph... |
ORPHA:251004 |
Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abnormality of the female genitalia, Abnormal metac... |
ORPHA:228123 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Broad thumb, Toe syndactyly, Downturned corners of mouth, Long philtrum, M... |
OMIM:619720 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Neoplasm of the pancreas,... |
ORPHA:892 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Cataract, Small scrotum, Clinodactyly, Overlapping toe, Overlapping fingers, Micr... |
OMIM:617822 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardia... |
OMIM:277400 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Osteopenia, Abnormal columella morphology, Narrow mouth, Malar flattening, Joint hyper... |
ORPHA:2463 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Long philtrum, Ventricular septal defect, Postaxial polydactyly, Am... |
OMIM:617895 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle we... |
OMIM:157640 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Retrognathia, Clinodactyly, Widely spaced teeth, Arachnodactyly, Syndactyly |
OMIM:619092 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Peters anomaly, Cleft soft palate, Micrognathia, Smooth philtrum, Brachydactyly, Atr... |
OMIM:614526 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Short toe, Astigmatism, C... |
ORPHA:464311 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Cardiomegaly, Severe failure t... |
ORPHA:97297 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Cyanosis |
ORPHA:1302 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia |
OMIM:611773 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Small scrotum, Finger syndactyly, Micrognathia, Cryptorchidism, High palate, Symphalangism affect... |
ORPHA:2990 |
Camurati-Engelmann Disease |
|
Carious teeth, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abnormal morphology... |
ORPHA:1328 |
Frontoocular Syndrome |
|
Micrognathia, Narrow mouth, Narrow philtrum, Atrial septal defect, High palate, Pulmonic stenosis |
OMIM:605321 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... |
OMIM:601186 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Hypoxemia |
OMIM:610921 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Abnormal cardiac ventricle morphology, Facial hypotonia, Decreased scrotal rugation... |
ORPHA:261311 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ... |
OMIM:241080 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Cataract, Gastrointestinal hemorrhage, Finger syndactyly, Tetralo... |
ORPHA:974 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Hypogonadism, Tetralogy of Fallot, Hand polydactyly, Hy... |
ORPHA:2316 |
Sialidosis Type 1 |
|
Cataract, Skeletal muscle atrophy, Thick lower lip vermilion, Splenomegaly, Hernia, Corneal opacity |
ORPHA:812 |
Odontoonychodermal Dysplasia |
|
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... |
OMIM:257980 |
Marfan Syndrome |
|
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... |
OMIM:154700 |
X-Linked Hypophosphatemia |
|
Rachitic rosary, Limitation of joint mobility, Rickets, Enthesitis, Sensorineural hearing impairm... |
ORPHA:89936 |
Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
Monosomy 9P |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Limitation o... |
ORPHA:261112 |
Bohring-Opitz Syndrome |
|
Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Ventri... |
OMIM:605039 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili... |
OMIM:620114 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Vitreous hemorrhage, ... |
ORPHA:39044 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Narrow mouth, Ventricular septal defect, Everted lower lip vermilion, Atrial septa... |
ORPHA:228399 |
Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Carious teeth, Xerostomia, Congestive heart failure, Narrow foramen obturato... |
ORPHA:220393 |
Cornelia De Lange Syndrome 1 |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, High palate, High, narrow palate, C... |
OMIM:122470 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hearing impairment, Thick lower lip vermilion, Recurrent otitis media,... |
OMIM:309900 |
Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Barrel-shaped chest, Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,... |
ORPHA:163979 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial sep... |
OMIM:601927 |
Ayme-Gripp Syndrome |
|
Craniofacial asymmetry, Abnormality of the dentition, Long philtrum, Narrow mouth, Malar flatteni... |
OMIM:601088 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Pericarditis |
ORPHA:163596 |
Dubowitz Syndrome |
|
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Micrognathia, Cryptor... |
OMIM:223370 |
Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvul... |
ORPHA:3191 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypoplastic scapulae, Finger swelling, Microcytic anemia, Recurrent otitis media, Arrhythmia, Fle... |
OMIM:256040 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Depressed nasal bridge, Retrognathia, Thoracic hypoplasia, Anteverted nares, Open mouth, Exaggera... |
ORPHA:254528 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Microgn... |
OMIM:620070 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... |
ORPHA:1106 |
Blau Syndrome |
|
Posterior uveitis, Cataract, Keratitis, Xerostomia, Camptodactyly of finger, Large vessel vasculi... |
ORPHA:90340 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Ankle flexion contracture, Hypospadias, Dental crowding, Finger syndactyly, Cryptorchidism, Singl... |
ORPHA:435938 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Narrow chest, Thoracic hypoplasia, Flaring of lower rib cage, Short ribs, Deformed ri... |
ORPHA:168549 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cataract |
OMIM:618321 |
Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Long philtrum, Umbilical hernia, Hypertrophic ... |
ORPHA:1517 |
Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, H... |
ORPHA:900 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis, Downturned corners of mouth, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnor... |
ORPHA:2131 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, ... |
ORPHA:1427 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, A... |
ORPHA:755 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, Cryptorchidism, Mitral ... |
ORPHA:286 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wo... |
OMIM:191100 |
Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Natal tooth, Hearing impairment, Tracheomalacia, Thick lower lip ve... |
ORPHA:261652 |
Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
Infant Botulism |
|
Hypotension, Mydriasis, Xerostomia, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chr... |
ORPHA:178478 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Osteoarthritis, Abnor... |
ORPHA:93351 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Neuhauser Syndrome |
|
Bifid uvula, Long philtrum, Megalocornea, Hypoplasia of the iris, Genu valgum, Micrognathia, Prim... |
OMIM:249310 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Abnormal enchondral ossification, Short ribs, Cupped ribs, ... |
OMIM:156530 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Narrow mouth, Irregular dentition, Camptodactyly, Pericardial lymphangiectasia, Syndactyly |
OMIM:616006 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Hypothyr... |
OMIM:212065 |
Rubinstein-Taybi Syndrome |
|
Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, At... |
ORPHA:783 |
Familial Mediterranean Fever |
|
Vasculitis, Oral leukoplakia, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Arrhyt... |
ORPHA:342 |
Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Oral ulcer, Myo... |
OMIM:612541 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Distal Triplication 15Q |
|
Retrognathia, Abnormal heart morphology, Micrognathia, Arachnodactyly, Hernia, Patent ductus arte... |
ORPHA:314588 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Recombinant 8 Syndrome |
|
Abnormality of the dentition, Small scrotum, Downturned corners of mouth, Cleft upper lip, Campto... |
ORPHA:96167 |
Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Midface retrusion, Micrognathia, Sensorineural hearing impairment,... |
ORPHA:261197 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... |
OMIM:177170 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Narrow mouth, Malar flattening, Arachnodactyly, Atrial septal defect, Cleft palate |
ORPHA:93946 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Keloids, Wrist swelling, Camptodactyly of finger,... |
OMIM:309000 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Hypoplastic nipples, Arrhythmia |
OMIM:273400 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Abno... |
ORPHA:2637 |
Limb Body Wall Complex |
|
Iris coloboma, Cleft lip, Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalan... |
ORPHA:2369 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Congenital diaphragmatic... |
OMIM:617602 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media, Narrow mouth,... |
ORPHA:3455 |
Multiple Sulfatase Deficiency |
|
Cataract, Broad thumb, Splenomegaly, Smooth philtrum, Corneal opacity, Broad hallux phalanx |
ORPHA:585 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Prominent nasal bridge, Senso... |
OMIM:619269 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Immotile sper... |
OMIM:613807 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... |
ORPHA:2063 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Micromelia, Sandal gap, Umbilical hernia, Genu valgum, Arachnodactyly, Atrial septal defect, High... |
ORPHA:1035 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ... |
ORPHA:3429 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Dental crowding, Increased adipose tissue around the neck, Premat... |
OMIM:248370 |
Kilquist Syndrome |
|
Xerostomia, Wide mouth, 2-3 toe syndactyly, Hypoplasia of teeth, Mandibular prognathia, Coxa valga |
OMIM:619080 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... |
OMIM:182250 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Macroglossia, Delayed eruption of teeth, Eczematoid dermatitis, Thick lower ... |
ORPHA:369950 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
20P13 Microdeletion Syndrome |
|
Microcornea, Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper... |
ORPHA:313781 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
Tarp Syndrome |
|
Clinodactyly, Subdural hemorrhage, Tetralogy of Fallot, Micrognathia, Single transverse palmar cr... |
OMIM:311900 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... |
ORPHA:261330 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia |
OMIM:620208 |
Atelosteogenesis Type Ii |
|
Elbow dislocation, Genu valgum, Micrognathia, Bilateral cleft palate, Broad phalanx, Bilateral ta... |
ORPHA:56304 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Down Syndrome |
|
Keratoconus, Narrow mouth, Bilateral single transverse palmar creases, Open mouth, Protruding ton... |
ORPHA:870 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... |
ORPHA:494444 |
Shigellosis |
|
Pneumonia, Hypovolemic shock, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis... |
ORPHA:810 |
Farber Disease |
|
Skeletal muscle atrophy, Short toe, Short finger, Abnormality of the wrist, Hepatosplenomegaly, A... |
ORPHA:333 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension |
OMIM:620029 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Epistaxis |
ORPHA:721 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Clitoral hypertrophy, Micrognathia, Protruding tongue, Cryptorchidism, Ventricular septal defect,... |
OMIM:214100 |
Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral regurgitation, Mitral valve prolaps... |
OMIM:615873 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Hemophagocytosis, Fasci... |
ORPHA:39812 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
Basal Cell Nevus Syndrome 1 |
|
Wide nasal bridge, Cleft upper lip, Abnormal sternum morphology, Macrocephaly, Short ribs, Supern... |
OMIM:109400 |
Congenital Tracheomalacia |
|
Intercostal retractions, Abnormal heart morphology, Tetralogy of Fallot, Apnea, Cyanosis, Ventric... |
ORPHA:95430 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Umbilical h... |
OMIM:600001 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Sprengel anomaly, Everted lower lip ver... |
ORPHA:800 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Limb joint contracture, Knee flexion contracture, Cyanotic episode |
ORPHA:284417 |
Filippi Syndrome |
|
Finger syndactyly, Supernumerary nipple, Bilateral single transverse palmar creases, Cryptorchidi... |
ORPHA:3255 |
Alg9-Cdg |
|
Rhizomelia, Tricuspid regurgitation, Abnormal heart morphology, Hepatic cysts, Ventricular septal... |
ORPHA:79328 |
Typhoid |
|
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis |
ORPHA:99745 |
Serotonin Syndrome |
|
Hypotension, Mydriasis, Rhabdomyolysis, Hyperhidrosis, Tachycardia, Hypertension |
ORPHA:43116 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Small hand, Abnormality of the dentition, Cataract, Long philtrum, Abnormality of th... |
OMIM:300968 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... |
OMIM:619656 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... |
OMIM:611717 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurrent pneumonia, F... |
OMIM:215150 |
Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Narrow chest, Dental crowding, Secondary microcephaly, Bulbous nose, Micrognathia, Pro... |
OMIM:620601 |
Meckel Syndrome |
|
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Bowing of the long bones, Male pseudohe... |
ORPHA:564 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Patent foramen ov... |
OMIM:610505 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Cataract, Allergic conjunctivitis, Bicuspid aortic valve, Chordee, Delayed... |
OMIM:176690 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Dental crowding, Clinodactyly, Downturned corners of mouth, Thick lower lip vermil... |
ORPHA:261323 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/... |
OMIM:118100 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Midface retrusion, Cleft upper lip, Low-set, posteriorly rotated ears, Wide mouth, ... |
ORPHA:1394 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Small scrotum, Small hand, Xerostomia, Cryptorchidism, Atrial sep... |
ORPHA:398069 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Microcornea, Carious teeth, Clitoral hypertrophy, Diastema, Micrognat... |
OMIM:244450 |
Cat-Eye Syndrome |
|
Preauricular skin tag, Preauricular pit, Hearing impairment, Abnormal rib morphology |
ORPHA:195 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
Hydrops Fetalis |
|
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Small for gestational age, Capillary... |
ORPHA:1041 |
Tetrasomy 5P |
|
Congestive heart failure, Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Aplasi... |
ORPHA:3309 |
Noonan Syndrome 6 |
|
Polyhydramnios, Pulmonic stenosis, Hypertrophic cardiomyopathy, Edema |
OMIM:613224 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:269920 |
Trichinellosis |
|
Skin rash, Conjunctival hyperemia, Abnormal uvea morphology, Facial palsy, Trismus, Retinal hemor... |
ORPHA:863 |
Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:397 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
Proteus Syndrome |
|
Carious teeth, Finger syndactyly, Decreased muscle mass, Chorioretinal coloboma, Myofibrillar myo... |
ORPHA:744 |
Q Fever |
|
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Hepatosplenomeg... |
ORPHA:781 |
Orofaciodigital Syndrome Type 6 |
|
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... |
ORPHA:2754 |
Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Hearing im... |
ORPHA:1775 |
Friedreich Ataxia 2 |
|
Congestive heart failure, Hammertoe, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Decreased muscle mass, Aortic dissection, Elbow ... |
ORPHA:1900 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
Fish-Eye Disease |
|
Angina pectoris, Splenomegaly, Corneal opacity |
ORPHA:79292 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Lambdoidal craniosynostosis, Hypoplasia of the maxilla, Coronal craniosynostosis, H... |
OMIM:101400 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Growth delay, Short stature, Hypogonadism |
OMIM:618165 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Hip osteoarthritis, Sacroiliac arthritis, Arrhythmia, Oligoarthritis, Enthe... |
OMIM:106300 |
Werner Syndrome |
|
Cataract, Secondary amenorrhea, Skeletal muscle atrophy, Congestive heart failure, Hypogonadism, ... |
ORPHA:902 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Microcornea, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged inte... |
OMIM:151200 |
Smith-Lemli-Opitz Syndrome |
|
Small scrotum, Postaxial foot polydactyly, Recurrent otitis media, Overlapping toe, Micrognathia,... |
OMIM:270400 |
Olmsted Syndrome 1 |
|
Palmoplantar keratoderma, Autoamputation of digits, Hyperhidrosis, Corneal opacity, Flexion contr... |
OMIM:614594 |
Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology |
OMIM:602248 |
Primrose Syndrome |
|
Hearing impairment, Narrow mouth, Hip contracture, Torus palatinus, High palate, Macrotia, Hypopl... |
OMIM:259050 |
Al Kaissi Syndrome |
|
High, narrow palate, Small hand, Clinodactyly, Long philtrum, Macrodontia, Malar rash, Thin upper... |
OMIM:617694 |
Carpenter Syndrome 2 |
|
Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Ta... |
OMIM:614976 |
Ivic Syndrome |
|
Synostosis of carpal bones, Joint stiffness, Radioulnar synostosis, Arrhythmia, Rectovaginal fistula |
ORPHA:2307 |
Barth Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:302060 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
Traboulsi Syndrome |
|
Bifid uvula, Cataract, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Ectopia len... |
OMIM:601552 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... |
ORPHA:201 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmo... |
OMIM:620141 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Small thenar eminence, Neut... |
OMIM:105650 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... |
ORPHA:508498 |
Relapsing Polychondritis |
|
Cataract, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Large vessel vasculitis, ... |
ORPHA:728 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contract... |
OMIM:613150 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... |
OMIM:218700 |
Hypomagnesemia 3, Renal |
|
Genu valgum, Astigmatism, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Hyperten... |
OMIM:248250 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
Botulism |
|
Mydriasis, Xerostomia, Arrhythmia |
ORPHA:1267 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Long philtrum, Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Mi... |
OMIM:259720 |
Buratti-Harel Syndrome |
|
Bifid uvula, Recurrent pneumonia, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Crypto... |
OMIM:619314 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R... |
ORPHA:289176 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth... |
OMIM:305100 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Cholelithiasis, Osteomyelitis |
ORPHA:171876 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body we... |
ORPHA:263455 |
Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Tetralog... |
ORPHA:2473 |
Leprechaunism |
|
Clitoral hypertrophy, Long penis, Central hypothyroidism, Failure to thrive, Overgrowth of extern... |
ORPHA:508 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Long philtrum, Tooth agenesis, Inguinal hernia, Cryptorchidism, Non-midline cl... |
ORPHA:1252 |
Lathosterolosis |
|
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, L... |
ORPHA:46059 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... |
OMIM:615777 |
Familial Mediterranean Fever |
|
Erysipelas, Aphthous ulcer, Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, A... |
OMIM:249100 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... |
OMIM:175050 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis |
ORPHA:85414 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Choanal atresia, Fibrous syngnathia, Lip pit, Joint stiffness, Micrognathia, Thin upper lip vermi... |
ORPHA:1300 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Carious teeth, Hyperplasia of the maxilla, Hydrometrocolpos, Recurrent otitis media, Micrognathia... |
OMIM:150230 |
Zygomycosis |
|
Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemo... |
ORPHA:73263 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Abnormal palate morphology, Hernia, Patent ductus arteriosus |
ORPHA:251046 |
Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th... |
OMIM:249000 |
Branchiootic Syndrome |
|
Abnormality of the outer ear, Preauricular skin tag, Conductive hearing impairment, Atresia of th... |
ORPHA:52429 |
3Mc Syndrome 1 |
|
Short 5th finger, Cleft lip, Caudal appendage, Dental crowding, Cleft upper lip, Supernumerary ni... |
OMIM:257920 |
Ruijs-Aalfs Syndrome |
|
Cataract, Posterior subcapsular cataract, Skeletal muscle atrophy, Hypogonadism, Elbow flexion co... |
OMIM:616200 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Micrognathia, Short lingual frenulum, Congenital diaphragmatic hernia, Cry... |
ORPHA:96121 |
Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals |
OMIM:618724 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Long philtru... |
ORPHA:77258 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Bowed humerus, Intrav... |
OMIM:616507 |
Distal Deletion 10Q |
|
Clinodactyly, Micrognathia, Atrial septal defect, High palate, Patent ductus arteriosus, Hip disl... |
ORPHA:96148 |
Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Cubitus valgus, Deep palmar crease, Hyperhidrosis, Atrial septal def... |
OMIM:613706 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Long philtrum, Hypertrophic cardiomyopathy, Overlapping toe, Overlapping fingers, Tented upper li... |
OMIM:619383 |
Vici Syndrome |
|
Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help... |
OMIM:242840 |
Foodborne Botulism |
|
Mydriasis, Xerostomia, Arrhythmia |
ORPHA:228371 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited ... |
OMIM:615222 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Neutrope... |
ORPHA:175 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ... |
OMIM:256800 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:3201 |
Cystinosis |
|
Hypothyroidism, Portal hypertension, Myopathy, Corneal opacity |
ORPHA:213 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate |
ORPHA:1997 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Small hand, Widely spaced teeth, Micrognathia, Bilateral single transverse... |
ORPHA:459061 |
Al-Raqad Syndrome |
|
Sandal gap, Narrow mouth, Thin upper lip vermilion, Atrial septal defect, Brachydactyly |
OMIM:616459 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, Micrognathia, Postaxial polydact... |
OMIM:614099 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Failure to thrive in infancy, ... |
ORPHA:746 |
Norrie Disease |
|
Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil morphology, Mal... |
ORPHA:649 |
Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta, Bowing of the arm, Coxa vara, Protrusio acetabuli, Bowing of the legs |
OMIM:613982 |
Trisomy 18 |
|
Narrow mouth, Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Ventri... |
ORPHA:3380 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Joint stiffness, A... |
ORPHA:2167 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Low-set ears, Depressed nasal bridge, Thin ribs, Narrow chest, Midface retrusion, Thoracic hypopl... |
OMIM:151210 |
Orofacial Cleft 15 |
|
Palate fistula, Inguinal hernia, Single transverse palmar crease, Bilateral cleft palate, Cryptor... |
OMIM:616788 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic facial bones, Hypoplastic scapulae, Limitation of joint mobility, Barrel-shaped chest... |
OMIM:607326 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Corneal dystrophy, Angina pectoris, Arrhythm... |
OMIM:301500 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Obesity, Ovarian cyst, Ventricular s... |
OMIM:188400 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Cryptorchidism, Hypohidrosis |
ORPHA:461 |
Ogden Syndrome |
|
Cardiogenic shock, Cryptorchidism, Ventricular septal defect, Arrhythmia, Torticollis |
ORPHA:276432 |
Neovascular Glaucoma |
|
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... |
ORPHA:94058 |
Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Micrognathia, T... |
OMIM:617022 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Narrow pelvis bone, Long philtrum, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Malar f... |
OMIM:207410 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Preaxial polydactyly, Micrognathia, Wide... |
OMIM:243605 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Micrognathia, Median cleft palate, Submucous cleft hard palate, Ventricul... |
OMIM:301043 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Irregu... |
OMIM:618162 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly |
OMIM:619091 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Hypospadi... |
OMIM:305450 |
Scedosporiosis |
|
Pneumonia, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Endocarditis, Perica... |
ORPHA:449280 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Supernumerary ve... |
OMIM:609813 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Umbilical hernia, Abnormal hip bone morphology, Epiphyseal stippling, Inguinal hernia,... |
ORPHA:584 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Tangier Disease |
|
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Opacification of ... |
OMIM:205400 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cataract, Long philtrum, Bifid scrotum, Micrognathia, Malar flattening, Cryptorchidism, Triangula... |
OMIM:257300 |
Craniopharyngioma |
|
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... |
ORPHA:54595 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of the dentition, Microcornea, Cataract, Keratoconjunctivitis sicca, Hypohidrosis, Sc... |
ORPHA:1806 |
Williams-Beuren Syndrome |
|
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... |
OMIM:194050 |
Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Orchitis, Internal hemorrhage, Br... |
ORPHA:99826 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... |
ORPHA:1145 |
Barber-Say Syndrome |
|
Wide nasal bridge, Atresia of the external auditory canal, Hearing impairment, Delayed eruption o... |
ORPHA:1231 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Absent ossification o... |
OMIM:166210 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Amyloidosis, Finnish Type |
|
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Cardiac amyl... |
OMIM:105120 |
Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Broad thumb, Gastrointestinal... |
ORPHA:79076 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... |
OMIM:266920 |
Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Conductive hearing impa... |
ORPHA:2876 |
Polyarteritis Nodosa |
|
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis |
ORPHA:767 |
Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck |
OMIM:271630 |
Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Abnormality of the dentition, Conductive hearing impairment, Retrognathia, Thi... |
ORPHA:2785 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Skeletal muscle atrophy, Splenomegaly, Flared iliac wing, Opacification o... |
OMIM:230650 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, High palate, Retrognathia, Joint hypermobility |
OMIM:300219 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Aortic valve stenosis, Caudal appendage, Prominent palatine ridges, Narrow m... |
OMIM:272950 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Thin upper lip vermilion,... |
ORPHA:521308 |
Juberg-Hayward Syndrome |
|
Radioulnar synostosis, Orofacial cleft, Microcephaly, Abnormal rib morphology, Wide nose |
ORPHA:2319 |
Porphyria Variegata |
|
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension |
ORPHA:79473 |
Trichodental Dysplasia |
|
Hypodontia, Conical tooth, Odontodysplasia |
OMIM:601453 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... |
OMIM:606895 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
Brachydactyly, Type E1 |
|
Short clavicles, Multiple impacted teeth, Straight clavicles |
OMIM:113300 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Dental crowding, Clinodactyly, Long philtrum, Hepatosplenomegaly, Talipes equinovarus, Broad phil... |
ORPHA:397709 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Abnormali... |
ORPHA:1101 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... |
ORPHA:91495 |
Melnick-Needles Syndrome |
|
Tooth malposition, Hypoplastic scapulae, Narrow chest, Delayed eruption of teeth, Recurrent otiti... |
OMIM:309350 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose |
ORPHA:3044 |
Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Aortic regurgitation, Pulmonic stenosis, Ventricular septal defect |
OMIM:222470 |
Adult-Onset Still Disease |
|
Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneumonitis, Anemia, Arthritis, Ne... |
ORPHA:829 |
Immunodeficiency 9 |
|
Lymphopenia, Recurrent aphthous stomatitis, Myopathy, Hypoplasia of the thymus, Amelogenesis impe... |
OMIM:612782 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... |
OMIM:607323 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apn... |
OMIM:252010 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Deep philtrum, Achalasia, Anisocoria |
ORPHA:289483 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Neonatal death, 2-3 toe syndactyly, Talipes equinovarus, Cutaneo... |
OMIM:236500 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Plague |
|
Mydriasis, Hypotension, Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenome... |
ORPHA:707 |
Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los... |
ORPHA:1811 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonary arterial hypertension |
OMIM:619064 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy |
OMIM:609141 |
Coffin-Siris Syndrome |
|
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... |
ORPHA:1465 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Cachexia, Arrhythmia, Distal arthrogryposis |
ORPHA:42 |
Charcot-Marie-Tooth Disease Type 4C |
|
Distal amyotrophy, Facial paralysis, Foot dorsiflexor weakness, Weakness of facial musculature, H... |
ORPHA:99949 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Ventricula... |
ORPHA:2308 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica... |
OMIM:115470 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Chromosome 15Q14 Deletion Syndrome |
|
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Everted lower lip vermilion, At... |
OMIM:616898 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Retrognathia, Tetralogy of Fallot, Polydactyly, Sclerocornea, Atrial septal defect, Dou... |
OMIM:619869 |
Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Aplasia of the left hemidiap... |
ORPHA:2437 |
Kinsship Syndrome |
|
Low-set ears, Osteopenia, Downturned corners of mouth, Cervical ribs, Thick lower lip vermilion, ... |
OMIM:619297 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
African Trypanosomiasis |
|
Myelitis, Keratitis, Third degree atrioventricular block, Second degree atrioventricular block, C... |
ORPHA:3385 |
Aicardi Syndrome |
|
Block vertebrae, Cleft upper lip, Prominence of the premaxilla, Protruding ear, Supernumerary rib... |
ORPHA:50 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Tented upper li... |
ORPHA:896 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... |
ORPHA:124 |
Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c... |
ORPHA:199 |
Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura |
OMIM:225750 |
Cholera |
|
Hypotension, Palmoplantar cutis laxa, Tachycardia, Hypovolemic shock |
ORPHA:173 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... |
OMIM:615284 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
Oculoectodermal Syndrome |
|
Microcornea, Supernumerary nipple, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigm... |
OMIM:600268 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... |
OMIM:270100 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Megalencephaly |
|
Long penis, Genu valgum, Macroorchidism, Atrial septal defect |
ORPHA:2477 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cryptorchidism, Scleritis, Abnormal pelvis bone morphology, Corneal erosion, Eczematoid dermatiti... |
ORPHA:2273 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Abnormal rib morphology,... |
ORPHA:474 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Failure to thrive, Hypertrop... |
OMIM:615471 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... |
OMIM:308050 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eryth... |
OMIM:158310 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocar... |
OMIM:212140 |
Jacobsen Syndrome |
|
Hypospadias, Microcornea, Annular pancreas, Chorioretinal coloboma, Micrognathia, Cryptorchidism,... |
OMIM:147791 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Precocious puberty, Restrictive cardiomyopathy, Slender long bone, Downturne... |
ORPHA:369837 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, Astigmatism, 2-3 toe synd... |
OMIM:619471 |
Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Fetal ascites, Respiratory distress, Oligohydramnios, Cyanosis, Ventricul... |
ORPHA:141127 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... |
OMIM:619705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr... |
OMIM:253800 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Clinodactyly, Lower limb hypertonia, Pancytopenia, Macrocytic ... |
ORPHA:2169 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Iris coloboma, Finger syndactyly, Bifid scrotum, Hypospadias, Cleft palate |
ORPHA:66629 |
Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly |
OMIM:263630 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Aniridia, Micrognathia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Noonan Syndrome 1 |
|
Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Synovitis, Atrial septal d... |
OMIM:163950 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Pulmo... |
ORPHA:2519 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... |
OMIM:612946 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... |
ORPHA:811 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo... |
ORPHA:238468 |
Tyrosinemia Type 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Malar flattening, Corneal opacity |
ORPHA:28378 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension |
OMIM:223900 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Atopic dermatitis, Dental malocclusion, Open bite, Hypertrophic car... |
OMIM:115150 |
Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Bifid scrotum, Hand polydactyly, Shawl scrotum, High palate, Hypospadi... |
OMIM:239710 |
Cog1-Cdg |
|
Posterior rib gap, Wide nasal bridge, Osteopenia, Long philtrum, Low-set, posteriorly rotated ear... |
ORPHA:263508 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Pheochromocytoma, Hypophosphatemic rickets, Cryptorchidism, Arrhythmia, Rayna... |
ORPHA:2874 |
Fryns Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, H... |
OMIM:229850 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Micrognathia, Malar fla... |
ORPHA:1787 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Oxygen desaturation on exertion, Peripheral edema, Cyanosis, Increased... |
ORPHA:60025 |
Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... |
ORPHA:99725 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Narrow mouth, Mitral regurgitation, Mitral valve prolapse, Cryptorchidism, Arachnodactyly, Talipe... |
OMIM:601776 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Diabetes mellitus, Skeletal muscle atrophy |
ORPHA:96 |
Fraser Syndrome 1 |
|
Clitoral hypertrophy, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal heart morph... |
OMIM:219000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Atopic dermatitis, Cutaneous syndactyly of toes, Cleft lip, Cleft upper lip, Cutaneous finger syn... |
OMIM:225060 |
Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
Trichothiodystrophy 3, Photosensitive |
|
Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Eclabion |
OMIM:616395 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the ovary, Abdominal ob... |
OMIM:619321 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypopla... |
ORPHA:3107 |
Blepharocheilodontic Syndrome 2 |
|
Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis |
OMIM:617681 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Cryptorchidism... |
OMIM:607932 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Downturned corners of mouth, Cryptorchidism, Ventricular septal defect, Thin u... |
ORPHA:457193 |
Retinoblastoma |
|
Cellulitis, Hypopyon, Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Heterochr... |
ORPHA:790 |
Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Malar flattening,... |
ORPHA:246 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Megalocornea, Muscular ventricular septal defect, Inguinal hernia, Single trans... |
OMIM:618354 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect |
OMIM:113301 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Pericarditis |
OMIM:609939 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis |
OMIM:618343 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly |
ORPHA:1114 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Myopathy, Rhabdomyolysis, Ar... |
OMIM:609015 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Hypospadias, Eczematoid dermatitis, Abnormal dental enamel morphology, Abnorma... |
ORPHA:85199 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Delayed eruption of permanent teeth, Tented upper lip vermilion, Microcephaly,... |
ORPHA:521445 |
Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Subvalvul... |
OMIM:613001 |
Familial Multiple Nevi Flammei |
|
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage |
ORPHA:624 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Hearing impairment, Short nose, Hypoplasia of the maxilla, Downturned corners of mo... |
ORPHA:500150 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Toe syndactyly, Finger syndactyly, Cleft palate |
ORPHA:261272 |
Stolerman Neurodevelopmental Syndrome |
|
Bifid uvula, Abnormality of the dentition, Mandibular prognathia, Cryptorchidism, Hypoplastic nip... |
OMIM:618505 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... |
OMIM:187300 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o... |
ORPHA:261243 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Cataract, Small hand, Leukocoria, Short foot, Cleft palate |
ORPHA:2714 |
Monosomy 22 |
|
Finger syndactyly, Long philtrum, Retrognathia, Contractures of the large joints, Hepatosplenomeg... |
ORPHA:96123 |
Baller-Gerold Syndrome |
|
Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Limited... |
OMIM:218600 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Failure to thrive, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Small for gestational a... |
OMIM:614813 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Exa... |
OMIM:615879 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... |
OMIM:600376 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation |
ORPHA:2181 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ve... |
OMIM:134780 |
Pagod Syndrome |
|
Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital... |
ORPHA:991 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Sensorineural hearing impairment, Ta... |
ORPHA:3214 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, He... |
ORPHA:2072 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Finger syndactyly, Long philtrum, Retrognathia, Cryptorchidism, Arachnodactyly, S... |
ORPHA:73246 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Pterygium, Oral mucosal blisters, Enamel hypoplasia, Recurrent skin... |
ORPHA:79403 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Arrhythmia, Asymmetric radial dysplasia |
ORPHA:2878 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Skeletal muscle atrophy, Progeroid facial appearance, Flexion contracture,... |
ORPHA:75496 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
Choanal Atresia |
|
Respiratory distress, Cyanosis |
ORPHA:137914 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Umbilical hernia, Sup... |
ORPHA:1001 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic her... |
OMIM:312870 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Axial Mesodermal Dysplasia Spectrum |
|
Preauricular skin tag, Micrognathia, Gingival overgrowth, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1834 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Floating-Harbor Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Broad nasa... |
ORPHA:2044 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... |
ORPHA:3097 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Flexion contracture, Congestive heart failure |
ORPHA:682 |
Listeriosis |
|
Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ... |
ORPHA:533 |
Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... |
ORPHA:1553 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormality of the dentition, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Abnormal m... |
ORPHA:3224 |
Iatrogenic Botulism |
|
Mydriasis, Xerostomia, Orthostatic hypotension |
ORPHA:254509 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Cryptorchidism, Ventricular septal defect, Sclerocornea, Hypoplasia of penis, Iris c... |
ORPHA:77298 |
Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Extramedullary hematopoiesis, Tet... |
ORPHA:2886 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Left v... |
ORPHA:365 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, Patent ductus arteriosus, Limb undergrowth, Hypothyroidism, Atrial septal defect, J... |
OMIM:618005 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Eosinophilia, Short philtrum, Posteriorly rotated ears |
OMIM:617237 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Death in childhood, Neonatal death, Pulmonary arterial hypertension, Bra... |
OMIM:614437 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect |
OMIM:301030 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Micromelia, Finger syndactyly, Tetralogy of Fallot, Micrognathia, Situs in... |
ORPHA:1908 |
Aspergillosis |
|
Abnormal rib morphology, Nasal congestion, Osteomyelitis, Eosinophilia, Sinusitis |
ORPHA:1163 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Intracranial hemorrhage, Acrocyanosis |
ORPHA:49566 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... |
ORPHA:90348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Muscular dystrophy, Congenital contracture, Peters anomaly, Cleft upper lip, Megalocorn... |
OMIM:236670 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Choroidal neovascularization, Cryptorchidism, Syndactyly |
ORPHA:404451 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Pulmonary hemorrhage |
OMIM:603585 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Anteverte... |
ORPHA:254519 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Mi... |
OMIM:263750 |
Mogs-Cdg |
|
Retrognathia, Overlapping fingers, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly,... |
ORPHA:79330 |
Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Complete atrioventricular canal... |
OMIM:264480 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook |
OMIM:615633 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Malar flattening, Smooth philtrum, Thin ve... |
OMIM:601853 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... |
OMIM:601356 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Cleft lip, Conductive h... |
OMIM:280000 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Acrocyanosis, Urticaria |
ORPHA:343 |
Pallister-Hall Syndrome |
|
Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Hydrometrocolpos, Polydac... |
ORPHA:672 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Large earlobe, Anteverted nares,... |
ORPHA:1675 |
Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... |
ORPHA:91139 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Sutural cataract, Atrial septa... |
OMIM:612474 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... |
OMIM:217085 |
Townes-Brocks Syndrome |
|
Broad thumb, Toe syndactyly, Abnormal vagina morphology, Chorioretinal coloboma, Cryptorchidism, ... |
ORPHA:857 |
Pachyonychia Congenita |
|
Natal tooth, Oral leukoplakia, Ear pain, Advanced eruption of teeth, Angular cheilitis |
ORPHA:2309 |
Spondyloocular Syndrome |
|
Abnormality of the dentition, Cataract, Posterior subcapsular cataract, Overlapping toe, Mitral v... |
OMIM:605822 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Amelogenesis imperfecta, Enamel hypoplasia, Corneal pterygium |
OMIM:245660 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Abnormality of adrenal physiology, Anisocoria, Achalasia |
OMIM:300858 |
Restrictive Dermopathy |
|
Low-set ears, Choanal atresia, Thin ribs, Osteopenia, Natal tooth, Aplasia/Hypoplasia involving t... |
ORPHA:1662 |
Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Microphallus, Decreased response to growth hormone stimulat... |
OMIM:603467 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... |
OMIM:263520 |
Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Brachydactyly, Atria... |
ORPHA:2655 |
Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Tetralogy of Fallot, Ab... |
ORPHA:1335 |
Localized Scleroderma |
|
Vasculitis, Sclerosis of finger phalanx, Arrhythmia, Raynaud phenomenon, Arthritis, Flexion contr... |
ORPHA:90289 |
Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Clinodactyly, Limb hypertonia, Syndactyly |
OMIM:618087 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis |
OMIM:618426 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Microcornea, Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Apla... |
ORPHA:959 |
Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... |
ORPHA:64 |
Cardiofaciocutaneous Syndrome 4 |
|
Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
Proboscis Lateralis |
|
Abnormality of the maxillary sinus, Microcornea, Abnormal facial skeleton morphology, Cataract, L... |
ORPHA:141099 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue... |
OMIM:612289 |
Alazami Syndrome |
|
Slender long bone, Widely spaced teeth, Malar flattening, Atrial septal defect, Thick vermilion b... |
ORPHA:319671 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233710 |
Floating-Harbor Syndrome |
|
Broad thumb, Carious teeth, Recurrent otitis media, Cryptorchidism, Atrial septal defect, Broad f... |
OMIM:136140 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Spondyloenchondrodysplasia |
|
Pectus carinatum, Midface retrusion, Dental malocclusion, Delayed eruption of teeth, Arthritis, J... |
ORPHA:1855 |
Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Everted lower ... |
OMIM:252930 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hy... |
OMIM:619573 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Broad n... |
OMIM:129900 |
Seckel Syndrome |
|
Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Micrognathi... |
ORPHA:808 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph... |
OMIM:251750 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly |
OMIM:119580 |
Scleromyxedema |
|
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... |
ORPHA:167635 |
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Narrow palate, Corneal opacity |
OMIM:620469 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Atrial septal defect, Developmental cataract, Ventricular septal defect |
ORPHA:357225 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Micrognathia, Mitral valve prolapse, Arachnodactyly, Short philtrum, At... |
OMIM:300986 |
Trisomy 20P |
|
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi... |
ORPHA:261318 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Abnormal heart morphology, Cryptorchidism, Short stature, Small for gestational... |
OMIM:227650 |
Kbg Syndrome |
|
Widely-spaced maxillary central incisors, Underdeveloped nasal alae, Cervical ribs, Long philtrum... |
OMIM:148050 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Tachypnea, Pulmonary arterial hypertension, Hypoxemia |
OMIM:610913 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis |
OMIM:207950 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Flaring of rib cage, Stomatitis, Osteolysis, ... |
OMIM:612852 |
Tooth Agenesis, Selective, 4 |
|
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... |
OMIM:150400 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Limb hypertonia, Cyanosis |
OMIM:619580 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Long philtrum, Umbilical hernia, Inguinal hernia, Malar flattening, Abnormal mitral valve morphol... |
ORPHA:1292 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, Absent gallbl... |
OMIM:300712 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Generalized osteosclerosis, Raynau... |
ORPHA:416 |
Pili Torti-Onychodysplasia Syndrome |
|
Cleft lip, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Conjunctival hyperemia, Cuta... |
ORPHA:2890 |
Gaucher Disease |
|
Gingival bleeding, Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatitis, Abn... |
ORPHA:355 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Bifid scrotum, Preaxial hand polydactyly, Ab... |
ORPHA:887 |
Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
Dpagt1-Cdg |
|
Prolonged QT interval, Intracranial hemorrhage, Anasarca |
ORPHA:86309 |
Ramos-Arroyo Syndrome |
|
Carious teeth, Keratitis, Smooth tongue, Long philtrum, Xerostomia, Narrow mouth, Chorioretinal a... |
ORPHA:1051 |
Kyphomelic Dysplasia |
|
Low-set ears, Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Cleft up... |
OMIM:211350 |
Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral cleft palate, Bifid nose, Absen... |
OMIM:610828 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Short lingual frenulum, Nar... |
OMIM:617360 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Chronic oral candidiasis, ... |
OMIM:615758 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Narrow mouth, Polydactyly, Short... |
ORPHA:59315 |
Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Rectovagin... |
OMIM:243800 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Cataract, Chronic myelogenous leukemia, Slender long bone, Chorioretinal colo... |
ORPHA:636 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia |
ORPHA:228305 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Craniofacial hyperostosis, Tricuspid valve prolapse, Multiple lipomas, Lip... |
ORPHA:2396 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Derm... |
ORPHA:100078 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Narrow palate, Dental malocclusion, Wide mouth, Inguinal hernia, Cryptorchidism, Down-sloping sho... |
OMIM:227330 |
Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Short digit, Brachydactyl... |
OMIM:615789 |
Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Thickened ribs... |
OMIM:252920 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis, Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilio... |
OMIM:619727 |
Craniofacial Microsomia 1 |
|
Preauricular skin tag, Hypoplasia of the maxilla, Duplicated tragus, Conductive hearing impairmen... |
OMIM:164210 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233690 |
Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Leukocytosis, Arrhythmia, Myocarditis, ... |
ORPHA:31824 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Sit... |
ORPHA:199302 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Arrhythmia, Reduced bone mineral density, Congestive heart failure |
ORPHA:428 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Wrinkly Skin Syndrome |
|
Low-set ears, Osteopenia, Abnormal cheek morphology, Carious teeth, Broad nasal tip, Delayed erup... |
ORPHA:2834 |
Poems Syndrome |
|
Ascites, Pleural effusion, Plethora, Pulmonary arterial hypertension, Pericardial effusion, Acroc... |
ORPHA:2905 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hearing impairment, Widely spaced teeth, Gingival overgrowth, Microdon... |
OMIM:301072 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Aicardi Syndrome |
|
Block vertebrae, Cleft upper lip, Anteverted nares, Prominence of the premaxilla, Missing ribs, S... |
OMIM:304050 |
Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Hypospadias, Short thumb, Clinodactyly, Abnormal heart mor... |
ORPHA:1708 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism, 2-3 finger syndactyly, Subvalvular aortic stenosis, Patent d... |
ORPHA:1338 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Axenfe... |
ORPHA:2152 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Thin upper lip vermilion, Talipes equinovarus, Glossitis, Megaloblastic ... |
OMIM:277380 |
Mucopolysaccharidosis, Type Iiid |
|
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Hearing impai... |
OMIM:252940 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Depressed nasal bridge, Macroglossia, Increased density of long bones, Midface retr... |
OMIM:269150 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Ventricular septal defect, Abnormality of the anterior pituitary, Atrial septal de... |
ORPHA:75389 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Cyanosis, Knee flexion contracture, Weakness of facial musculature |
OMIM:617239 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... |
OMIM:300280 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Broad thumb, Broad hallux, Corneal opacity |
OMIM:272200 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... |
OMIM:614170 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hyp... |
OMIM:166200 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Retrognathia, Long philtrum, Anterior polar cataract, Left ventricular hypertrophy, Atrial septal... |
OMIM:620510 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open ... |
ORPHA:261537 |
Revesz Syndrome |
|
Aplastic anemia, Oral leukoplakia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia |
OMIM:268130 |
Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Thickened ribs... |
OMIM:252900 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Abn... |
ORPHA:1422 |
Neurofaciodigitorenal Syndrome |
|
Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Atresia of the exter... |
ORPHA:2673 |
Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
Yellow Fever |
|
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemes... |
ORPHA:99829 |
Charge Syndrome |
|
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... |
OMIM:214800 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... |
ORPHA:340 |
Sickle Cell Disease |
|
Cholelithiasis, Priapism, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypertension |
OMIM:603903 |
Dermatomyositis |
|
Cellulitis, Vasculitis, Abnormal eosinophil morphology, Chondrocalcinosis, Sinus tachycardia, Hel... |
ORPHA:221 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... |
OMIM:613309 |
Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... |
OMIM:609192 |
Legius Syndrome |
|
Cataract, Male urethral meatus stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia, Ov... |
ORPHA:137605 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Postnatal macrocephaly, Persistence of primary teeth, Decreased skull ossification... |
ORPHA:93325 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Atrial septal defect, Camptodactyly, High palate, Patent ductu... |
OMIM:614846 |
Chromosome 16P13.3 Duplication Syndrome |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Small thenar eminence, Atrial septal def... |
OMIM:613458 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Abnormal helix morphology, Failure of eruption of permanent teeth, Triangular ... |
ORPHA:2896 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... |
ORPHA:1860 |
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Abnormality of the dentition, Long philtrum, Inguinal hernia, Ventricular septal defect, Smooth p... |
ORPHA:261190 |
Chand Syndrome |
|
Short fifth metatarsal, Imperforate hymen, Agenesis of permanent teeth, Abnormal oral frenulum mo... |
ORPHA:1401 |
Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Anhidrosis, Open mouth, Single transverse palmar crease, Intrinsic hand muscle atroph... |
OMIM:615273 |
Seckel Syndrome 9 |
|
Clitoral hypertrophy, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, T... |
OMIM:616777 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Postaxial foot polydactyly, Hepatosplenomegaly, Portal hypertension, Ingui... |
OMIM:267010 |
Melas |
|
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... |
ORPHA:550 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... |
OMIM:612109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Depressed nasal bridge, Cleft lip, Recurrent otitis media, Broad ribs, Macrocephaly, Open mouth, ... |
OMIM:301066 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis |
ORPHA:29207 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancr... |
OMIM:260400 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Protrusio acetabuli, Coxa vara |
OMIM:610968 |
Radio-Renal Syndrome |
|
High, narrow palate, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Micrognat... |
ORPHA:3015 |
Septopreoptic Holoprosencephaly |
|
Microcephaly, Abnormal rib morphology |
ORPHA:280195 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract, Micrognathia, Enamel hypoplasia, Patent ductus arteriosus |
OMIM:618458 |
Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Sia... |
ORPHA:449395 |
Microphthalmia/Coloboma 9 |
|
Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma |
OMIM:615145 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Cryptorchidism |
ORPHA:1069 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Preaxial hand polydactyly, Micrognathia, Malar flattening, Ventricular septal def... |
OMIM:610536 |
Leptospirosis |
|
Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Chorioretinitis, Rhabdomyolysis, Skin rash... |
ORPHA:509 |
Nicolaides-Baraitser Syndrome |
|
Broad 2nd toe, Short lingual frenulum, Cryptorchidism, Everted lower lip vermilion, Short metacar... |
OMIM:601358 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tooth malposition, Small hand, Overlapping toe, Atrial septal defect, High palate, Short foot, Pa... |
ORPHA:480880 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Microcephaly, Flexion contracture, Narrow mouth |
OMIM:614833 |
Unilateral Polymicrogyria |
|
Abnormal heart morphology, Epistaxis, Apnea, Cyanosis |
ORPHA:268943 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology, Myopathy |
ORPHA:257 |
Esophageal Atresia |
|
Respiratory distress, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Episodic respirat... |
ORPHA:1199 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Arrhythmia |
ORPHA:57 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
Xylt1-Cdg |
|
Long philtrum, Broad ribs, Joint hypermobility, Short clavicles, Microcephaly, Thick vermilion bo... |
ORPHA:370930 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Myoclonic-Astatic Epilepsy |
|
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Broad philtrum, Wide mouth, S... |
ORPHA:1942 |
Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Atrial septal defect, H... |
OMIM:611961 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... |
OMIM:610655 |
Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Absent earlobe, Downturned corn... |
OMIM:264090 |
Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Cleft upper lip, Acetabular d... |
OMIM:201180 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Isc... |
OMIM:175780 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectovaginal ... |
ORPHA:2753 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Abnormality of the dentition, Cataract, Keratitis, Pterygium, Hypogona... |
ORPHA:910 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Finger syndactyly |
ORPHA:1514 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Apnea, Partial atrioventricular canal defect, Cyanosis |
OMIM:620423 |
Agel Amyloidosis |
|
Cataract, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Kerat... |
ORPHA:85448 |
Incontinentia Pigmenti |
|
Conical tooth, Delayed eruption of teeth, Oligodontia, Supernumerary ribs, Hypodontia, Eosinophil... |
OMIM:308300 |
Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Splenomegaly, Lipodystrophy, Atrial septal defect, Pericardial effusion, Wide mout... |
OMIM:608776 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility |
OMIM:615220 |
Omodysplasia 1 |
|
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Long philtrum, Limited elbow fl... |
OMIM:258315 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve... |
ORPHA:453504 |
Acute Intermittent Porphyria |
|
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension |
ORPHA:79276 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the ... |
OMIM:135900 |
16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Ventricular... |
ORPHA:261236 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Atrial septal defect, Facial hy... |
OMIM:611087 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Conductive hearing impairment, Atresia of the external auditory canal, Tracheo... |
ORPHA:1393 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Broad clavicles, Recurrent upper respiratory tract infections, Midface retrusion, Delayed eruptio... |
ORPHA:508542 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Absence of Stensen duct, Hypoplasia of... |
OMIM:604292 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Distal ulnar epiphyseal stippling, Delayed ossification of carpal bones, Sensorineur... |
OMIM:609616 |
Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Rodrigues Blindness |
|
Sclerocornea, Tooth malposition, Microcornea |
OMIM:268320 |
Craniofrontonasal Syndrome |
|
Axillary pterygium, Abnormality of the dentition, Toe syndactyly, 3-4 finger syndactyly, Broad ha... |
OMIM:304110 |
Shashi-Pena Syndrome |
|
Retrognathia, Thin upper lip vermilion, Deep palmar crease, Patent ductus arteriosus, Limb hypert... |
OMIM:617190 |
Pierson Syndrome |
|
Cataract, Skeletal muscle atrophy, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypop... |
OMIM:609049 |
Adnp Syndrome |
|
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Thick lower l... |
ORPHA:404448 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Brachydactyly, Atrial septal defect, Abnormal metaphysis morphology, Patent ductus ar... |
ORPHA:93274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... |
OMIM:619051 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, H... |
ORPHA:99931 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Anisocoria, Internal hemorrhage, Lower limb muscle weakness |
ORPHA:247245 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Synostosis of carpal bones, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:1836 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent otitis media, Open mouth, Cryptorchidism, Hand muscle atrophy, Ventricular septal defec... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent otitis media, Open mouth, Cryptorchidism, Hand muscle atrophy, Ventricular septal defec... |
ORPHA:363958 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelvis, Ear... |
OMIM:208500 |
Nocardiosis |
|
Cellulitis, Pneumonia, Keratitis, Lymphadenitis, Cutaneous abscess, Abnormal heart valve morpholo... |
ORPHA:31204 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Preauricular skin tag, Retrognathia, Bulbous nose, Sensorineural hearing impairment, Rib fusion, ... |
ORPHA:544488 |
Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:306400 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Decreased fertility, Shock, Decreased testicular size, Hypogonadotropic hyp... |
ORPHA:90794 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Macrocephaly |
ORPHA:199276 |
Kikuchi-Fujimoto Disease |
|
Vasculitis, Leukopenia, Malar rash, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Skin ... |
ORPHA:50918 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Downturned corners of mouth, Abnormal heart morphology, Furrowed tongue, Atrioventri... |
ORPHA:453499 |
Coffin-Siris Syndrome 4 |
|
Short 5th finger, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, Mitral a... |
OMIM:614609 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... |
OMIM:615503 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Cleft palate, Abnormal rib morphology |
ORPHA:1318 |
Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ... |
ORPHA:268261 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Abnormal cornea morphology, Situs inversus totalis, Male infertility |
OMIM:244400 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Postaxial polydactyly, Vaginal atresia, Hypospadias, Syndactyly |
OMIM:605231 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythmia, Hypopa... |
ORPHA:231226 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Tented philtrum, Long philtrum, Micrognathia, Absent scrotum, Cryptorchidism, Hypoplastic labia m... |
ORPHA:495875 |
Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the... |
ORPHA:2538 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
Amoebiasis Due To Entamoeba Histolytica |
|
Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditi... |
ORPHA:67 |
Renpenning Syndrome 1 |
|
Joint contracture of the hand, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial sept... |
OMIM:309500 |
Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Ulnar deviation of finger, Clinodactyly, Sandal ga... |
OMIM:618164 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Iris atrophy, Hypohidrosis, Orthostatic hypotension, Anhidrosis, Impotence |
OMIM:146500 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Ascites, Left ventricular systolic dysfunction, Tr... |
ORPHA:51608 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Increased circulating cortisol level, Chronic mucocutaneous candidiasis, Primary adrena... |
ORPHA:3453 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... |
OMIM:618748 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Abnormal ilium morphology, Short distal phalanx of finger, Long philtrum, Micrognathia, Open mout... |
OMIM:614080 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion, Vertebral fusion, Block vertebrae |
OMIM:277300 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... |
ORPHA:65681 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Arm dystonia, Wolff-Parkinson-White syndrome |
OMIM:601338 |
Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Cataract, Hypoplasia of the iris, ... |
OMIM:251300 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
Sandhoff Disease |
|
Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly, Impotence |
OMIM:268800 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Bowing of the long bones, Atrial septal defect, Postaxial hand polydac... |
OMIM:611134 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, 2-3 toe syndactyly, T... |
OMIM:620025 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival bleeding, Short toe, Umbilical hernia, Atrophic scars, Recurrent mandibular subluxations... |
OMIM:225410 |
Townes-Brocks Syndrome 1 |
|
Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second metacarpal, Cryptorchidism, Ventri... |
OMIM:107480 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Neutropenia, Thrombocytopenia, Anemia, High palate, Syndactyly |
OMIM:614520 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Thin ribs, Wide nasal bridge, Coronal craniosynostosis, Retrognathia, Underdevelope... |
ORPHA:83617 |
Nivelon-Nivelon-Mabille Syndrome |
|
Micromelia, Hypoplasia of the iris, Male pseudohermaphroditism, Brachydactyly, Short phalanx of f... |
OMIM:600092 |
Severe Congenital Nemaline Myopathy |
|
Low-set ears, Thin ribs, Abnormal thorax morphology, Multiple prenatal fractures, Flexion contrac... |
ORPHA:171430 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... |
ORPHA:26791 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Facial palsy, Mitral regurgitation, Camptodactyly of finger |
ORPHA:261349 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... |
OMIM:228900 |
Trisomy 8P |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Bifid uvula, Conductive hea... |
ORPHA:264450 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Retinoblastoma |
|
Pinealoma, Leukocoria, Vitreous hemorrhage, Leukemia, Cleft palate |
OMIM:180200 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... |
OMIM:239850 |
Microphthalmia, Syndromic 1 |
|
Tooth malposition, Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Recurrent... |
OMIM:309800 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Aspiration pneumonia, Smooth philtrum, Intraventricular hemorrhage, Syndactyly |
OMIM:616430 |
Neu-Laxova Syndrome 2 |
|
Cataract, Toe syndactyly, Finger syndactyly, Micrognathia, High palate, Rocker bottom foot, Cleft... |
OMIM:616038 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Aplasia of the ovary, Impair... |
ORPHA:79318 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac... |
OMIM:617713 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Corneal perforation, Increased red blood cell count, Myocardial necrosis, Infectious e... |
ORPHA:68 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... |
OMIM:300106 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Micrognathia, ... |
ORPHA:3047 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
Miller Fisher Syndrome |
|
Mydriasis, Anisocoria, Facial palsy |
ORPHA:98919 |
Becker Nevus Syndrome |
|
Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida occulta, Pectus excavatum |
ORPHA:64755 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis, Hypoperistalsis |
OMIM:619365 |
Mgat2-Cdg |
|
Osteopenia, Arrhythmia, Hypoplastic nipples, Reflex asystolic syncope |
ORPHA:79329 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Cleft palate |
OMIM:257910 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Bell-shaped thorax, Missing ribs, Rib fusion, Spina bifida occulta, Short thorax... |
OMIM:613686 |
Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Micrognathia, Microdontia |
OMIM:112240 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Short lingual frenul... |
ORPHA:1521 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept... |
OMIM:301044 |
Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short nasal sep... |
OMIM:113620 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism, Limb hypertonia, Atrial septal defect |
OMIM:301058 |
Fetal Akinesia Deformation Sequence 1 |
|
Low-set ears, Thin ribs, High, narrow palate, Congenital contracture, Arthrogryposis multiplex co... |
OMIM:208150 |
Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
Sprengel Deformity |
|
Spina bifida occulta, Sprengel anomaly, Rib segmentation abnormalities |
OMIM:184400 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
Poland Syndrome |
|
Small hand, Acute leukemia, Finger syndactyly, Congenital diaphragmatic hernia, Cryptorchidism, A... |
ORPHA:2911 |
Intestinal Botulism |
|
Mydriasis, Xerostomia |
ORPHA:178481 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Impotence, Cardiomyopathy |
OMIM:105210 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Hypoplasia of the capital femoral epiphysis, Hypoplastic iliac wing, Irregula... |
OMIM:313400 |
Fraser Syndrome |
|
Abnormality of the outer ear, Atresia of the external auditory canal, Abnormality of the middle e... |
ORPHA:2052 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Small for gestational age |
OMIM:613320 |
Fetal Alcohol Syndrome |
|
Micrognathia, Congenital diaphragmatic hernia, Microdontia, Thin upper lip vermilion, Smooth phil... |
ORPHA:1915 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Absent nipple, Umbilical hernia, Mitral valve prolapse, Cubitus valgu... |
OMIM:104350 |
16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger |
ORPHA:261211 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
Nephronophthisis 11 |
|
Anemia, Anisocoria |
OMIM:613550 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Carious teeth, Cryptorchidism, Ventricular septal defect, Chordee, Atrial septal defect, Broad to... |
OMIM:619522 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Ventricular se... |
OMIM:619475 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Enamel hypomineralization, Subvalvular aortic stenosis, Hypovolemia |
ORPHA:47159 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythmia, Hypopa... |
ORPHA:231214 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Dilatation of the ventricular cavity, Narrow mouth, Cryptorchidism, Ventricular s... |
ORPHA:459070 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypospadias, Keratitis, Eczematoid dermatitis, Ectrodactyly, Umbilical hernia, Recurrent skin inf... |
OMIM:308205 |
Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Micrognathia, Enlarged labia minora, Patellar aplasia, Hip c... |
OMIM:606170 |
Microphthalmia, Syndromic 3 |
|
Cataract, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Sclerocornea,... |
OMIM:206900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Single naris, Su... |
ORPHA:2250 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Acromesomelic Dysplasia 1 |
|
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... |
OMIM:602875 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Septic arthritis, Leukocytosis, Hypertension, Pancreatitis, Throm... |
ORPHA:544482 |
Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Brachyda... |
OMIM:613195 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
Popliteal Pterygium Syndrome |
|
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Small scrotum, Cleft... |
OMIM:119500 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... |
ORPHA:258 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Osteopenia, Depressed nasal bridge, Short ribs, Decreased calvarial ossification, Shor... |
OMIM:620076 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Short 5th metacarp... |
ORPHA:264200 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Right ventricular dilatation |
OMIM:253700 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Exocrine pancreatic insufficiency, Iron deficiency anemia, Hypothyroidism... |
ORPHA:1667 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Mandibular prognathia, Long philtrum, Micrognathia, Narrow mouth, Cry... |
OMIM:619512 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... |
OMIM:201475 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
Occipital Horn Syndrome |
|
Pectus carinatum, Broad clavicles, Narrow chest, Long philtrum, Broad ribs, Limited elbow extensi... |
OMIM:304150 |
Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosions, Arrhythmia, Conjuncti... |
OMIM:153400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Dyggve-Melchior-Clausen Disease |
|
Pectus carinatum, Recurrent upper respiratory tract infections, Broad ribs, Limited elbow extensi... |
ORPHA:239 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee... |
OMIM:608836 |
Phace Syndrome |
|
Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia iridis, Hypothyroidism, A... |
ORPHA:42775 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypothyroidism, Atrial septal defect |
OMIM:620211 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... |
OMIM:267750 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Mydriasis, Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Fac... |
ORPHA:79138 |
Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... |
ORPHA:37202 |
Acrorenal-Mandibular Syndrome |
|
Low-set ears, Thin ribs, Narrow palate, Hypoplastic scapulae, Narrow chest, Elbow flexion contrac... |
OMIM:200980 |
Cogan Syndrome |
|
Aortic regurgitation, Vasculitis, Large vessel vasculitis |
ORPHA:1467 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia |
OMIM:619482 |
Wiskott-Aldrich Syndrome |
|
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Hyperostosis, Hypoplasi... |
ORPHA:906 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Craniometaphyseal Dysplasia |
|
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Conductive hearing impairme... |
ORPHA:1522 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Short foo... |
ORPHA:93260 |
Inhalational Botulism |
|
Mydriasis, Xerostomia |
ORPHA:254504 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia |
OMIM:255120 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time |
OMIM:166220 |
Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Broad hallux, Microretrognathia, Preaxial polydactyly, Hamartoma of tongu... |
OMIM:615948 |
Choroidal Atrophy-Alopecia Syndrome |
|
Glue ear, Finger syndactyly, Supernumerary nipple |
ORPHA:1433 |
Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Short femoral neck, Short palm, Opacification of the corneal stroma |
OMIM:184095 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Anemia, Short phalanx of finger, Hypertension, Myocardial infarction |
OMIM:208060 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Mydriasis, Facial palsy, Lower limb muscle weakness |
ORPHA:2356 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Irregular tarsal ossification, Gingival overgrowth, Subepithelial cor... |
OMIM:221800 |
Kindler Syndrome |
|
Symblepharon, Carious teeth, Periodontitis, Oral leukoplakia, Phimosis, Telangiectasia of the ski... |
OMIM:173650 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Mitral stenosis, Submucous cleft hard... |
OMIM:617660 |
Takenouchi-Kosaki Syndrome |
|
Lymphedema, Abnormal cardiac septum morphology, Camptodactyly, Patent ductus arteriosus, Pulmonic... |
OMIM:616737 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Conductive hearing impairment, Recurrent otitis media, Short ribs, Joint hype... |
OMIM:250420 |
Gracile Bone Dysplasia |
|
Thin ribs, Ankyloglossia, Decreased skull ossification |
OMIM:602361 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Long philtrum, Open bite, Micrognathia, Down-sloping shoulders, Deep philtrum,... |
ORPHA:1974 |
Sotos Syndrome |
|
Decreased fertility, Cryptorchidism, Hip contracture, Ventricular septal defect, Talipes equinova... |
ORPHA:821 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Arterial rupture, Atrial septal defect, Inguinal hernia |
OMIM:619115 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, Micrognathia, Narrow... |
OMIM:300868 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... |
OMIM:600383 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Mydriasis, Pyelonephritis, Peritonitis, Elevated pulmonary artery pressure, ... |
OMIM:619351 |
Ramon Syndrome |
|
Delayed eruption of teeth, Hearing impairment, Juvenile rheumatoid arthritis, Narrow palate, Ging... |
OMIM:266270 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger |
ORPHA:2135 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Ulbright-Hodes Syndrome |
|
Low-set ears, Thin ribs, Depressed nasal bridge, Micrognathia, Narrow mouth, Humeroradial synosto... |
ORPHA:3404 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Tented upper lip vermilion, Atrial septal defect, Shortening of all distal phalange... |
OMIM:614749 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal dysplasia, Genu varum, Multiple joint contractures, Thin vermilion border, Short phal... |
ORPHA:99646 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature |
OMIM:300322 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Thick vermilion bord... |
ORPHA:79280 |
Opsismodysplasia |
|
Rhizomelia, Metaphyseal cupping, Long philtrum, Short phalanx of finger, Short long bone, Hypopla... |
OMIM:258480 |
Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Irregular chondrocostal junctions, Horizontal ribs, Short ribs |
OMIM:187760 |
Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped tragus, Underdeveloped an... |
ORPHA:2036 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Delayed ossification of carpal bones, Joint hypermobility |
OMIM:618395 |
Kabuki Syndrome 1 |
|
Short 5th finger, Congenital hip dislocation, Abnormality of the dentition, Recurrent aspiration ... |
OMIM:147920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... |
OMIM:220111 |
Adult Syndrome |
|
Abnormality of the dentition, Toe syndactyly, Absent nipple, Finger syndactyly, Abnormal dental m... |
ORPHA:978 |
Gm1-Gangliosidosis, Type I |
|
Depressed nasal ridge, Joint stiffness, Gingival overgrowth, Thickened ribs |
OMIM:230500 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Arrhythmia, Conjunctivitis, Diabetes mellitus, Corneal erosion |
ORPHA:33001 |
Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... |
OMIM:245150 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Abnormality of the menstrual cycle, Skin rash, Orchitis, Pr... |
ORPHA:556 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... |
OMIM:181450 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia |
ORPHA:99845 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I... |
ORPHA:48435 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Astigmatism |
OMIM:248190 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypogonadism, Arrhythmia, Arthrogryposis multiplex congenita, Heterochromia iridis |
ORPHA:163746 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd... |
OMIM:603671 |
Myasthenia Gravis |
|
Myositis, Acrocyanosis, Raynaud phenomenon |
ORPHA:589 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Ectopic scrotum, Cryptorchid... |
ORPHA:227 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White ... |
OMIM:613254 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:2234 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Congenital diaphragmati... |
OMIM:616546 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Atrial septal defect, Shortening of all distal phalanges of the finge... |
OMIM:614207 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Narrow chest, Horizontal ribs, Short ribs, Median cleft upp... |
OMIM:617088 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Midface retrusion, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Micro... |
OMIM:617799 |
Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Arterial rupture, Blepharochalasis, Mitral regurgita... |
ORPHA:287 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Arrhythmia, Cardiomyopathy, Heart block |
ORPHA:228308 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Micr... |
ORPHA:2166 |
Costello Syndrome |
|
Thick lower lip vermilion, Hypertrophic cardiomyopathy, Micrognathia, Mitral valve prolapse, Limi... |
OMIM:218040 |
Milroy Disease |
|
Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Flexion contracture, Congenital contracture |
OMIM:615368 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Thoracolumbar kyphosis, Depressed nasal bridge, Midface retrusion, Thoracic hypoplasia, Limited e... |
OMIM:618019 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... |
ORPHA:261183 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydacty... |
ORPHA:2211 |
Brittle Cornea Syndrome |
|
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Neoplasm of the gallbladder, Pituitar... |
ORPHA:733 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Tricuspid regurgitation, Glandular hypospadias |
OMIM:620306 |
Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent upper respiratory tract infections, Persistence of primary teeth, Joint hyp... |
OMIM:147060 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth |
OMIM:175100 |
Alagille Syndrome 1 |
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Short distal phalanx of finger, Microcornea, Cataract, Band keratopathy, Exocrine pancreatic insu... |
OMIM:118450 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... |
ORPHA:96191 |
Monosomy 13Q14 |
|
Cataract, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinod... |
ORPHA:1587 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma |
OMIM:256540 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Limb hypertonia, Retrognathia, Thrombocytopenia |
ORPHA:457351 |
Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
Lymphatic Malformation 6 |
|
Cellulitis, Micrognathia, Splenomegaly, Hypothyroidism, Atrial septal defect, Hydrocele testis |
OMIM:616843 |
Wilson Disease |
|
Sunflower cataract, Chondrocalcinosis, Kayser-Fleischer ring, Limb muscle weakness, Splenomegaly,... |
OMIM:277900 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Neonatal death, Hepatomegaly |
OMIM:608013 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Osteopetrosis, Incre... |
OMIM:612301 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Ventricular sep... |
OMIM:610978 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Arrhythmia, Myopathy, Rhabdomyolysis, Cardiomyopathy |
ORPHA:157 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Chorioretinal scar, Cataract, Choroidal neovascularization, Posterior synechia... |
ORPHA:91500 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia |
OMIM:612527 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Chorioretinal coloboma, Corneal opacity |
OMIM:120200 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:620185 |
Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Generalized limb muscle atrophy, Submucous cleft hard palate, Chordee, Atrial septal defect, Flex... |
OMIM:618891 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Macrocephaly at birth |
ORPHA:169189 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Polysplenia, Portal hypertension, Splenomegaly, Situs inversus totalis, Hy... |
OMIM:208540 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cutis marmorata, Multiple joint contractures, Cardiomegaly, Myositis... |
ORPHA:51 |
1P36 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Conductive hearing impairment, ... |
ORPHA:1606 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse vaginal sept... |
OMIM:236700 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Lymphopenia, Constr... |
ORPHA:90363 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Iris coloboma, Atrial septal defect, Chorioretinal coloboma |
OMIM:615219 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Depressed nasal bridge, Osteopenia, Dental crowding, Joint hypermobility, Osteoporosis |
OMIM:225400 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Absent thumb, Short thumb, Ventricular septal defect, Acute myeloid leukemia, Hy... |
OMIM:610832 |
Constricting Bands, Congenital |
|
Cleft upper lip, Talipes equinovarus, Hand polydactyly, Omphalocele, Ectopia cordis, Cleft palate... |
OMIM:217100 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Equinus calcaneus, Thin upper lip vermilion, 2-3 toe syndactyly, Smooth philtrum, Progressive fle... |
ORPHA:522077 |
Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Short ribs, Cupped ribs, Pectus excavatum, Relative macrocephaly,... |
OMIM:607778 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Wide nasal bridge, Narrow palate, Pectus carinatum, Broad clavicles, Long ear, Broa... |
OMIM:276820 |
Cystic Fibrosis |
|
Cor pulmonale, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Male infertility |
OMIM:219700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Bifid uvula, Small scrotum, Recurrent pneumonia, Sandal gap, Long philtrum, Umb... |
OMIM:620330 |
Toriello-Carey Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Abnormal cardiac septum morphology, Patent ductus arteriosus... |
ORPHA:3338 |
Gardner Syndrome |
|
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma |
ORPHA:79665 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature |
ORPHA:3063 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Growth delay, Failure to thrive, Failure to thrive in infancy, Primary hypothy... |
OMIM:219800 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Epidi... |
OMIM:620376 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Abnormal mitral valve morphology, Short hard palate, ... |
ORPHA:1969 |
Fraser Syndrome 3 |
|
Small scrotum, Short toe, Micrognathia, Cutaneous syndactyly, Hypoplasia of penis |
OMIM:617667 |
Cystic Fibrosis |
|
Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility |
ORPHA:586 |
Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology |
ORPHA:98977 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Cleft upper lip, Hamartoma of tongue, Horizontal ribs, Short ribs, Bifid ton... |
OMIM:613091 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... |
OMIM:258900 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cellulitis, Cataract, Erysipelas, Long philtrum, Atrial septal defect, Thick vermilion border, Le... |
ORPHA:2526 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
Hypermobile Ehlers-Danlos Syndrome |
|
Menometrorrhagia, Epistaxis, Keratoconus, Cystocele, Decreased fertility, Mitral valve prolapse, ... |
ORPHA:285 |
Dihydropyrimidinase Deficiency |
|
Talipes equinovarus, Short phalanx of finger |
OMIM:222748 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Short ribs, Rib fusion, Missing ribs, Vertebral fusion |
OMIM:271520 |
Vater/Vacterl Association |
|
Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Radioulnar syn... |
OMIM:192350 |
Holoprosencephaly 2 |
|
Bifid uvula, Midface retrusion, Proboscis, Median cleft palate, Malar flattening, Submucous cleft... |
OMIM:157170 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Osteoporosis-Pseudoglioma Syndrome |
|
Cataract, Tibial bowing, Iris atrophy, Ventricular septal defect, Absent anterior chamber of the ... |
OMIM:259770 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Obesity, Large for gest... |
ORPHA:116 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Ambiguous genitalia, Cutaneous syndactyly, Narrow mouth |
OMIM:617666 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Ventri... |
OMIM:620558 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive |
OMIM:230000 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Abetalipoproteinemia |
|
Failure to thrive, Congestive heart failure, Cardiomegaly, Hypothyroidism, Hepatomegaly |
ORPHA:14 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Atrial septal defect |
ORPHA:93947 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Sensorineural hearing impairment |
OMIM:614688 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Muscular dystrophy, Megalocornea, Micrognathia, Malar flattening, Everted lower lip ver... |
OMIM:253280 |
Goodpasture Syndrome |
|
Tachypnea, Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:618278 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Retinitis Pigmentosa 97 |
|
Iris atrophy |
OMIM:620422 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis, Mitral regurgitation |
OMIM:303600 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Pulmonary arterial hype... |
ORPHA:97685 |
Penile Agenesis |
|
Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Bilateral t... |
ORPHA:49 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Decreased testicular size, Muscular dystrophy, Opacification of the corneal stroma |
OMIM:615287 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract, Flexion contracture of finger |
ORPHA:1010 |