Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... |
ORPHA:324575 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... |
ORPHA:276575 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... |
ORPHA:276580 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased c... |
ORPHA:276556 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Fraxe Intellectual Disability |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Prominent ear helix, Ste... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... |
ORPHA:860 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Low-set ears, Recurrent hand flappi... |
OMIM:618147 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Compulsive behaviors, Attention deficit hyperactivity disorder, Short nose, Abn... |
ORPHA:217340 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... |
ORPHA:71529 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... |
OMIM:309548 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention de... |
OMIM:613670 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... |
OMIM:610947 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... |
ORPHA:263297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Prominent nose, Anteverted ears, Aggressive behavior, Macrotia, Abnormal repetitiv... |
OMIM:615541 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:2015 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Low-set ear... |
OMIM:609425 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Elevated circulating creatine kina... |
ORPHA:26793 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicula... |
OMIM:617303 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardia... |
OMIM:212138 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Ven... |
OMIM:601005 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Attention deficit hyperactiv... |
OMIM:620292 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Kaposiform Lymphangiomatosis |
|
Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi... |
ORPHA:464329 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... |
OMIM:600649 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Restlessness, Short nose, Sensorineural hearing impairment |
OMIM:618379 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... |
OMIM:615285 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolum... |
OMIM:252500 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... |
ORPHA:263455 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine,... |
OMIM:619048 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet righ... |
ORPHA:3426 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... |
OMIM:609152 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Agita... |
OMIM:300558 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Aggressive behavior, Large earlobe, Low-... |
OMIM:617752 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Short nose |
ORPHA:1832 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ... |
OMIM:314390 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the cochlea, Hypoplasia of the sem... |
ORPHA:251061 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Meckel Syndrome, Type 8 |
|
Short neck, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, ... |
OMIM:613885 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Abnormal repetitive mannerisms, Self-injurious behavior |
OMIM:618218 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Large earlobe, Bruxism, Short nose |
OMIM:615716 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Abnormal repetitive mannerisms |
OMIM:613443 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge |
ORPHA:1695 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:438178 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:619690 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Large for gestational age, Pericardi... |
OMIM:239850 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Short nose, Impulsivity, Uplifted earlobe |
OMIM:300143 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Chung-Jansen Syndrome |
|
Anteverted nares, Impulsivity, Aggressive behavior, Large earlobe, Attention deficit hyperactivit... |
OMIM:617991 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Atrial septal de... |
ORPHA:505248 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Attention deficit hyperactivity disorder |
OMIM:245570 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysma... |
ORPHA:49827 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... |
ORPHA:42 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... |
OMIM:618718 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Obesity, Hyperglycemia |
OMIM:619737 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Abnormal ... |
ORPHA:465508 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... |
ORPHA:85451 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
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 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Anteverted nares, Repetitive compulsive behavior, Wide nasal bridge, Compulsive be... |
ORPHA:352490 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... |
ORPHA:159 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... |
ORPHA:369873 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... |
ORPHA:485405 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Severe temper tantrums, Stereotypical hand wringing |
OMIM:619854 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Aggressive behavior, Attenti... |
OMIM:618825 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Aggressive b... |
OMIM:600430 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:614744 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Abnormal repetitive mannerisms |
ORPHA:85277 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:261120 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Sensorineural hearing impairment, Wide nasa... |
OMIM:618342 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Brad... |
OMIM:614702 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Prominent ear helix, Bulbous nose, Lar... |
ORPHA:411986 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:618506 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Bulbous nose, Inappropriate laughter, Thickened helices... |
OMIM:614104 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated ci... |
OMIM:614921 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Aggressive behavior, Bulbous nos... |
OMIM:618430 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Repetitive compulsive behavior, Recurrent upper respiratory tract infections, Ab... |
ORPHA:391372 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Short nose, Anteverted nares |
ORPHA:228384 |
Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Attention deficit hyperactivity disorder, Short nose, He... |
OMIM:619736 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... |
OMIM:616834 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Broad nasal tip |
OMIM:617393 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Thickened ... |
OMIM:618828 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:2370 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears |
OMIM:616910 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... |
OMIM:613091 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Inability to walk, Abnormal atrioventric... |
ORPHA:324410 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu... |
ORPHA:500095 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L... |
ORPHA:79113 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thela... |
OMIM:616878 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Wide nasal bridge, Fixated interests, Tics, Attention deficit hyperactivity ... |
OMIM:617788 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sev... |
OMIM:618027 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Cardiomegaly, Wide dist... |
OMIM:613320 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped n... |
OMIM:300912 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Short nose, ... |
ORPHA:261144 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macro... |
OMIM:617695 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenop... |
ORPHA:858 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... |
OMIM:230000 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Overlapping fingers... |
OMIM:617022 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Sho... |
OMIM:616897 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Tics, Low-set ears, Attention ... |
OMIM:617808 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... |
ORPHA:261529 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C... |
OMIM:614096 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Xq28 (MECP2) duplication |
|
Abnormal repetitive mannerisms, Macrotia, Depressed nasal bridge, Dysphagia |
DECIPHER:45 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati... |
OMIM:201475 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... |
OMIM:619170 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Hypothyroidism, Hypocholesterolemia, Atrial septal defect, Failure to ... |
OMIM:610883 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
H Syndrome |
|
Hallux valgus, Histiocytosis, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia,... |
ORPHA:168569 |
Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Wide nasal base, Abno... |
OMIM:301029 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Low-set ears, Recurr... |
OMIM:613604 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Short n... |
OMIM:617802 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Female infertility, Goiter |
OMIM:617577 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... |
ORPHA:2849 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Congestive heart failure,... |
ORPHA:528 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Aggressive behavior, Bulbous n... |
ORPHA:284169 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Low-set ears, Dysphagia, Short nose, Thick nasal alae |
ORPHA:163961 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Depressed nasal bridge, Aggressive behavior, Bulbo... |
ORPHA:369891 |
Developmental And Epileptic Encephalopathy 64 |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Self-injurious behavior, Low insertion... |
OMIM:618004 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Prominent nasal bridge, Hearing impairment |
OMIM:619877 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... |
OMIM:618886 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Prominent nose, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Wide nasal bridge, Head-banging, Abnormality of the outer ear, Onych... |
OMIM:182290 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... |
OMIM:605676 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Alg9-Cdg |
|
Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, Nar... |
ORPHA:79328 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Stereotypical body rocking, Tics, ... |
OMIM:617865 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Aggressive behavior, Bulbous nose, Wide nasal bridge, Self-injurious beha... |
OMIM:617061 |
Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Short nose, Hearing impa... |
OMIM:602342 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Protruding ear |
ORPHA:1495 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... |
ORPHA:14 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Microtia, Short nose, Hearing impairment |
ORPHA:1914 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Cardiomyocyte mitoch... |
ORPHA:423 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... |
OMIM:252920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Hyperalaninem... |
OMIM:619051 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, Dilated vestibule o... |
OMIM:611584 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Sensorineural hearing impairment, Abnormal semicircular ... |
ORPHA:87 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilatio... |
ORPHA:319671 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... |
ORPHA:1248 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, ... |
OMIM:617796 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, ... |
OMIM:266500 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal... |
ORPHA:261211 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... |
OMIM:312870 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Broad nasal tip |
OMIM:615637 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... |
ORPHA:251004 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Christianson Syndrome |
|
Abnormality of the nose, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:85278 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e... |
OMIM:614069 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Macrotia, Low-set ears |
OMIM:615419 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Single transve... |
OMIM:618143 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi... |
ORPHA:348 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Prominent nasal bridge, Low-set ears, Broad nasal tip |
OMIM:613544 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Dermotrichic Syndrome |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:99688 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Single transverse palm... |
OMIM:612651 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... |
ORPHA:116 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hypertension, Diabetic... |
OMIM:615238 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares, Head-banging |
OMIM:619356 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... |
OMIM:618156 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Stereotypical hand wringing |
ORPHA:289266 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Anteverted nares, Prominent nasal bridge, Sensorineural hearing impairment, Low-se... |
OMIM:617751 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... |
ORPHA:173 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol... |
ORPHA:276280 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Inappropriate laughter, Low-set ears, Short... |
OMIM:103050 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia |
OMIM:229700 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Anteverted nares, Bruxism, Hearing impairment |
OMIM:616351 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232220 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short columella, Microtia, Low-set ears, Short nose |
ORPHA:171839 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Broad nasal tip, Aggressive behavior, Self-biti... |
ORPHA:3306 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Overfolded helix, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:619092 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... |
OMIM:615873 |
Tenorio Syndrome |
|
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Irregular... |
ORPHA:79259 |
Distal Deletion 10Q |
|
Prominent nasal bridge, Prominent nose, Aggressive behavior, Congenital sensorineural hearing imp... |
ORPHA:96148 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Self-injurious behavior, Low-set ears,... |
OMIM:613174 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, M... |
OMIM:617713 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Short neck, Postaxial hand polydactyly, Hepatic fi... |
OMIM:200995 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, Wide nas... |
ORPHA:397612 |
Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increa... |
ORPHA:79237 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Anteverted nares, Self-injurious behavior, Low-set ears,... |
OMIM:601853 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... |
ORPHA:2126 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Macrotia, Hearing impairment |
ORPHA:2701 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Protruding ear, Abnorma... |
ORPHA:401777 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility |
OMIM:618948 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Decreased muscle mass, Proteinuria, Decreased glomerular filtration rate, Hyperlipi... |
OMIM:232200 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:610015 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Repetitive compulsive behavior,... |
OMIM:300260 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Ataxia, Pericardial e... |
OMIM:139210 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Short nose, Microtia, Convex nasal ridge |
ORPHA:2145 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge, Attention deficit hyperactivity disorder |
ORPHA:210548 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S... |
OMIM:300855 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Stenosis of the external auditory ca... |
OMIM:249620 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Muco... |
ORPHA:349 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Anterior creases of earlobe, Compulsive behaviors, Attention de... |
ORPHA:1727 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Sho... |
ORPHA:1716 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Then... |
ORPHA:2463 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Decreased fertility in f... |
ORPHA:79239 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Br... |
ORPHA:90051 |
Edinburgh Malformation Syndrome |
|
Short nose, Anteverted nares, Choanal atresia, Low-set ears |
ORPHA:1895 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... |
ORPHA:79473 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Shoulder disloc... |
OMIM:245600 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Bulbous nose, Abnormal repetitive mannerisms |
ORPHA:280763 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, He... |
ORPHA:238750 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Radio-Tartaglia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Impulsivit... |
OMIM:619312 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Aggressive behavior, Bulbous nose, Cupped ear, Depressed nasal ridge, Protruding ... |
OMIM:156200 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Sma... |
OMIM:227650 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Prominent nasal bridge, Congenital sensorineural hearing impairment, Sensorineu... |
ORPHA:500159 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Attention deficit hyperac... |
OMIM:619383 |
1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Broad nasal tip, Abnormal eating behavior, Self-injurious behavior, Long ear... |
ORPHA:293948 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Microtia, Depressed nasal ridge |
OMIM:616854 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism |
ORPHA:561854 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... |
OMIM:618619 |
Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Midline defect of the... |
ORPHA:1458 |
Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcin... |
ORPHA:508 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at... |
OMIM:615474 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... |
ORPHA:340 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:614732 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:113650 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... |
ORPHA:36234 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cardiovas... |
ORPHA:79086 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Hearing im... |
OMIM:616420 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Overfolded helix, Ma... |
ORPHA:2083 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... |
OMIM:619859 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu... |
ORPHA:365 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, A... |
ORPHA:391428 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal a... |
OMIM:619293 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia |
ORPHA:2547 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, 3-Methylglutaconic... |
OMIM:619259 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... |
ORPHA:320 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Attention deficit hyperactivity disorder, Low-set ears, Abnorm... |
OMIM:618205 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614613 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... |
OMIM:618316 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotensi... |
ORPHA:391673 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Prominent nose, Long nose, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Mi... |
ORPHA:1327 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:79319 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Self-injurious behavior, Attention d... |
ORPHA:819 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... |
OMIM:618652 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Anteverted nares, Paroxysmal bursts of laughter |
OMIM:618347 |
Stickler Syndrome Type 1 |
|
Short nose, Sensorineural hearing impairment |
ORPHA:90653 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
ORPHA:93329 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears |
OMIM:300887 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment |
ORPHA:2143 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Scoliosis, Cardiomegaly |
ORPHA:3137 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Ataxia, Abnormal pericardi... |
ORPHA:284 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, O... |
OMIM:618188 |
Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... |
OMIM:253250 |
Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Aggressive behavior, I... |
ORPHA:363528 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Wide nasal bridge, Microtia, Short nose, Macrotia, Hearing impairment |
OMIM:620250 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Wide nasal bridg... |
OMIM:123450 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... |
ORPHA:881 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears,... |
OMIM:616393 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Prominent crus of h... |
OMIM:619695 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge, Hearing impairment |
OMIM:614078 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureter... |
OMIM:130650 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Abnormal left ventr... |
ORPHA:36913 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Restlessness, Short nose, Sensorineural hearing impairment |
ORPHA:544503 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Cardiomegaly, Hepatosplenome... |
OMIM:268800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Head-banging, Low-set ears, Attention deficit hyperactivity... |
OMIM:619103 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Abnormal atriov... |
ORPHA:280365 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums, Broad nasal tip |
ORPHA:530983 |
Non-Distal Duplication 13Q |
|
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes |
ORPHA:1702 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Depressed nasal bridge, Aggressive behavior, Self-injurious behavior, S... |
OMIM:619833 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Microtia, Low-set, posteriorly rotated ears |
ORPHA:2983 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri... |
OMIM:610768 |
Graft Versus Host Disease |
|
Tachycardia, Failure to thrive, Hyperbilirubinemia |
ORPHA:39812 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, At... |
OMIM:300986 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... |
OMIM:256040 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge, Low-set ears |
OMIM:300863 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... |
OMIM:615866 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Self-injurious behavi... |
ORPHA:261236 |
Periventricular Nodular Heterotopia 7 |
|
Short nose, Anteverted nares, Sensorineural hearing impairment |
OMIM:617201 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose |
ORPHA:1514 |
Ogden Syndrome |
|
Abnormal head movements, Underdeveloped nasal alae, Short columella, Low-set ears, Macrotia, Enla... |
ORPHA:276432 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:608776 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... |
OMIM:243310 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Macrotia, Wide nasal bridge |
OMIM:218000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Overfolded helix, Microtia, Atresia of the external auditory c... |
OMIM:610536 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Trisomy 12P |
|
Abnormal antihelix morphology, Short nose, Wide nasal bridge, Low-set ears |
ORPHA:1699 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... |
ORPHA:666 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial sept... |
ORPHA:79330 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu... |
ORPHA:99931 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Recurrent upper respiratory tract infections, Short nose, Macrotia, Pr... |
ORPHA:3078 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Wide nasal bridge, Dysphagia, Macrotia, Abnormal repetitive man... |
OMIM:619435 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:791 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Stereotypical hand wringing |
OMIM:619179 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Sensorineural hearing impa... |
OMIM:212066 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... |
ORPHA:90793 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... |
ORPHA:230 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Bulbous nose, Tongue thrusting, Protruding ear, Bruxism, Abnormal repetit... |
OMIM:613454 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bodies, Loss of am... |
ORPHA:581 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... |
OMIM:619036 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Protruding ear |
OMIM:615539 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Achondrogenesis |
|
Short nose, Anteverted nares |
ORPHA:932 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose, H... |
ORPHA:950 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:618067 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Hypothyroidism, Cardiomyopath... |
OMIM:212065 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender ... |
OMIM:300967 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Sensorineural hearing impairment, Abnor... |
ORPHA:435638 |
Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Wide nose, Short nose, Hearing impairment |
OMIM:614261 |
2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Compulsive behaviors, Attent... |
ORPHA:1001 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Sensorineural hearing impairment, Short nose, Macrotia |
ORPHA:391408 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1185 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Jerky head movements, Restlessness |
ORPHA:157941 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose |
OMIM:618087 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul... |
OMIM:219800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... |
ORPHA:99125 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
Toluene Embryopathy |
|
Short nose, Low-set ears, Protruding ear |
ORPHA:1920 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Overfolded helix, Low-set ears |
OMIM:613735 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
OMIM:618354 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... |
ORPHA:90674 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Depressed nasal ridge, Low-set ears |
ORPHA:163966 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Bulbous nose, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:615656 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Wide nasal bridge, Attention deficit hyperactivity d... |
OMIM:620073 |
Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wide nasal bridge, Short ... |
ORPHA:894 |
Achondrogenesis Type 1B |
|
Short nose, Anteverted nares |
ORPHA:93298 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diabetes insipidus, Dec... |
ORPHA:96180 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Dysphagia |
ORPHA:240103 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Increased circulating go... |
ORPHA:1772 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Abnormal repetitive mannerisms |
OMIM:617807 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Abnormal temper tantrums, Low-set ears, Short nose, Abnormal repetitive mann... |
ORPHA:457279 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, External ear malforma... |
ORPHA:138 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Aggressive behavior, Low-set ears, Attention deficit hyperactivity disord... |
ORPHA:65286 |
Femoral-Facial Syndrome |
|
Short nose, Microtia, Low-set ears |
ORPHA:1988 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Anosmia, Hypoplasia of the... |
OMIM:609136 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Low-set ears, Sho... |
OMIM:618529 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Anteverted nares, Aggressive behavior, Compulsive behaviors, Abnormal ... |
OMIM:610253 |
White-Sutton Syndrome |
|
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Aggressive beha... |
OMIM:616364 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Kleefstra Syndrome |
|
Anteverted nares, Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened h... |
ORPHA:261494 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap... |
OMIM:194080 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Attention deficit hyperactivity disorder,... |
ORPHA:357001 |
Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:93258 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
Achondrogenesis Type 1A |
|
Short nose, Anteverted nares |
ORPHA:93299 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Hearing impairment |
OMIM:256600 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Wide nose, Prominent nasal bridge, Aggressive behavior, Self-mutilation, Abnormalit... |
ORPHA:251028 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Hyperthyroidism, Elevated circulating creatine kinase concentration, Diabete... |
ORPHA:254892 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded metacarpals wit... |
OMIM:182250 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, External ear malformation, Wide nasal bridge, Low-set ears, Attention def... |
ORPHA:251071 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... |
ORPHA:363659 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Wide nasal bridge, Large earlobe, Attention deficit hyperactivity disorder, Sho... |
OMIM:305400 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Short nose, Anteverted nares, Choanal atresia |
ORPHA:561 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Bulbous nose, Tongue thrusting, Wide nasal bridge, Protruding ear, Concave n... |
OMIM:606232 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... |
OMIM:619005 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S... |
ORPHA:457351 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Protruding ear, Low-set e... |
ORPHA:447997 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... |
ORPHA:744 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Prominent nasal tip, Short nose... |
ORPHA:439822 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Long penis, Oligozoospermia |
ORPHA:3000 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreas... |
OMIM:608013 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia |
OMIM:105210 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, Short nose, Macrotia |
OMIM:613026 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:222448 |
Verheij Syndrome |
|
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip |
OMIM:615583 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Short nose, ... |
ORPHA:476126 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitiv... |
OMIM:615802 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... |
ORPHA:90673 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:301040 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimot... |
ORPHA:358 |
Dend Syndrome |
|
Short nose, Anteverted nares, Thickened ears |
ORPHA:79134 |
Pallister-Hall-Like Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:241800 |
48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:10 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Low-set ears, Short nose, Short nasal bridge, Convex nasal ridge |
ORPHA:2409 |
Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Wide nose, Short nose |
OMIM:615851 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... |
ORPHA:91355 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Bulbo... |
OMIM:618454 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Nephroblastoma, Ulnar deviation of the wrist, Cardiomegaly, Inability to walk, ... |
ORPHA:97297 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
Microphthalmia With Limb Anomalies |
|
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Low-set ears, Short nose |
OMIM:206920 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Wide nasal bridge, Protruding ear |
ORPHA:2479 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness |
OMIM:616579 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Muscular ventricular septal defect, B... |
ORPHA:79324 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:314655 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1915 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears, Protruding ear |
OMIM:617988 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:93328 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Short nose, Macrotia |
ORPHA:2510 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Sho... |
OMIM:300749 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, S... |
OMIM:239300 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Ventricular septal defect, Impaired glucose tolerance, Precocious pubert... |
ORPHA:769 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
OMIM:617822 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Wide nasal bridge, Hearing impairment, Broad nasal tip |
OMIM:614749 |
Tetrasomy 12P |
|
Short nose, Anteverted nares |
ORPHA:884 |
Tetrasomy 5P |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
ORPHA:3309 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Wide nasal bridge, Low-set ears, Dysphagia, Short nose, Abnor... |
ORPHA:319182 |
Cadds |
|
Short nose, Sensorineural hearing impairment |
ORPHA:369942 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity di... |
OMIM:301030 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, ... |
OMIM:619575 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm |
OMIM:614874 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Head-banging, Attention d... |
ORPHA:177907 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:163649 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Tongue thrustin... |
OMIM:115150 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Low-set ears, Short nose |
OMIM:618590 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Anteverted nares, Choanal stenosis, Short nose |
ORPHA:1790 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Macrotia, Anteverted nares |
OMIM:234050 |
Warburg Micro Syndrome 2 |
|
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears |
OMIM:614225 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:615398 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Premature ventricular contraction |
OMIM:617072 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Aggressive beha... |
ORPHA:468678 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... |
ORPHA:93259 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:614701 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdeveloped nasal alae, De... |
OMIM:616835 |
Cenani-Lenz Syndrome |
|
Short nose, Convex nasal ridge, Hearing impairment, Protruding ear |
ORPHA:3258 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Stenosis of the external auditory canal, Low-set ears, S... |
ORPHA:93260 |
Distal Duplication 5Q |
|
Short nose, Macrotia, Prominent nasal bridge, Low-set ears |
ORPHA:96097 |
3C Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears |
ORPHA:7 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low-set ears, Attention defi... |
OMIM:619426 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Peho Syndrome |
|
Short nose |
OMIM:260565 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
Peho Syndrome |
|
External ear malformation, Short nose, Macrotia, Anteverted nares |
ORPHA:2836 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Coffin-Siris Syndrome |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Aggressive behavior, Re... |
ORPHA:1465 |
Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Round ear, Conductive hearing impairment, Short nose |
ORPHA:870 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:219200 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Underdeveloped nasal alae, Wide nasal bridge, Short nose, He... |
OMIM:193700 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Small for gestational age, Pulmonic stenosis, Hyperbiliru... |
OMIM:619488 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairm... |
OMIM:616331 |
C Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:211750 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, ... |
ORPHA:364577 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:59315 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Microtia, Depressed nasal bridge, Low-set ears |
OMIM:616723 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Sensorineural hearing impairment, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:620197 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Sh... |
ORPHA:560 |
Johanson-Blizzard Syndrome |
|
Abnormal nostril morphology, Short nose, Sensorineural hearing impairment, Underdeveloped nasal alae |
ORPHA:2315 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide... |
OMIM:613458 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Short nose, Depressed nasal bridge |
OMIM:605309 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Se... |
OMIM:246200 |
Pitt-Hopkins Syndrome |
|
Flared nostrils, Cupped ear, Wide nasal bridge, Self-injurious behavior, Thickened helices, Abnor... |
OMIM:610954 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose |
OMIM:613038 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Overfolded helix,... |
OMIM:614080 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Abnormal earl... |
ORPHA:35107 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Low-set ears, Round ear, Short nose, Hearing impairment |
OMIM:614114 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Self-biting, Prominent nasal tip, Short nose, Abnormal repetitive... |
ORPHA:522077 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:145420 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Microtia, Short columella, Low-set ears, Short nose |
OMIM:613603 |
Warburg Micro Syndrome 3 |
|
Short nose, Macrotia |
OMIM:614222 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columel... |
ORPHA:79345 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Low-set ears, S... |
OMIM:602398 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella |
OMIM:615803 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Low-set ears, Short nose |
OMIM:228520 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otitis media, S... |
OMIM:604173 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:217980 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Prolidase Deficiency |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
Smith-Kingsmore Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:616638 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares, Low-set ears, Sensorineural hearing impairment |
OMIM:612394 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... |
OMIM:608156 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose |
OMIM:101600 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Hypocholesterolemia |
OMIM:244450 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Broad nasal tip, Aggressive behavior, Hair-pulling, Polyph... |
OMIM:620330 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Abnormal repetitive mannerisms, Underfolded superior helices, Attention deficit hyperactivity dis... |
OMIM:300352 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Desbuquois Dysplasia 1 |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:251450 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short nose, Wide nasal bridge |
OMIM:311300 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... |
ORPHA:171929 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Restric... |
OMIM:619475 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, C... |
OMIM:309590 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... |
ORPHA:261197 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... |
ORPHA:300373 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Recurrent otitis media,... |
OMIM:213980 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Narrow nasal ridge, Bulbous nose, Sensorineural hearing ... |
OMIM:619512 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... |
OMIM:192350 |
Ruvalcaba Syndrome |
|
Short nose, Convex nasal ridge |
ORPHA:3121 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619428 |
Tangier Disease |
|
Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, Posteriorly rotated ears, Low-set ears, Dysphagia |
OMIM:617527 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Protruding ear, Abnormal antihelix morpholog... |
ORPHA:261318 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Raine Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abno... |
OMIM:259775 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears |
ORPHA:1812 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Posteriorly rotated ears, Microtia, Low-set ears, Short nose, Hearing imp... |
OMIM:601353 |
Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae |
ORPHA:1234 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility |
OMIM:619607 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Low-set ears, Short nose |
ORPHA:357074 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose |
OMIM:200600 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Low-set ears, Recurre... |
OMIM:154780 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619121 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Broad nasal tip, Aggressive beha... |
ORPHA:96121 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Abnormal circulating leptin ... |
ORPHA:79474 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Low-set ears |
ORPHA:363417 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
OMIM:258480 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cond... |
OMIM:164200 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Protruding ear, Prominent nasolabia... |
ORPHA:2953 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Sensorineural hearing impairment, Low-set ears, Short nose, Convex nasal ... |
OMIM:300661 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... |
OMIM:163950 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Shor... |
OMIM:257300 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Short nose, Impaired oropharyngeal swallow response, Sensorine... |
ORPHA:521426 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:1786 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Posteriorly rotated ears, Aggressive behavior, Bulbous nos... |
OMIM:601358 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepato... |
ORPHA:51 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short nose |
ORPHA:1394 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Short nose, Abnormal repetitiv... |
ORPHA:508533 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Short nose, Anteverted nares, Hearing impairment |
ORPHA:96147 |
Charge Syndrome |
|
Mixed hearing impairment, Choanal atresia, Aplasia of the semicircular canal, Sensorineural heari... |
OMIM:214800 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Cardiomegaly, Pericardi... |
ORPHA:51608 |
Plague |
|
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Low-set ears, Cond... |
OMIM:605627 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hypercalciuria, Hepatosplenomeg... |
OMIM:219700 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Short nose, ... |
OMIM:601812 |
Monosomy 9Q22.3 |
|
Hyperactivity, Short nose, Thickened ears, Low-set ears |
ORPHA:77301 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Wide nasal bridge, Microtia, Short nose, Hearing impairment |
ORPHA:2282 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Wide nose, Short nose, Sensorineural hearing impairment |
OMIM:608779 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Low-set ears, Dysphagia, Wide nasal base, Short nose, Low hanging columella |
OMIM:601559 |
Malan Syndrome |
|
Short nose |
OMIM:614753 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Precocious puberty, Hypertension, Hypoalbuminemia, Elevated circulatin... |
OMIM:270400 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Rett Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Miller-Dieker Lissencephaly Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:247200 |
Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Bulbous ... |
OMIM:157800 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Ventricu... |
OMIM:269700 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Conductive hearing impairment, Short nose, Prominent nasal bridge |
ORPHA:1225 |
Den Hoed-De Boer-Voisin Syndrome |
|
Posteriorly rotated ears, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical han... |
OMIM:619229 |
Trichothiodystrophy 1, Photosensitive |
|
Short nose, Macrotia, Protruding ear |
OMIM:601675 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Broad nasal tip, Overfolded h... |
OMIM:617330 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short nose, Sensorineural hearing impairment, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:616007 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Short nose, Sensorineural hearing impairment |
ORPHA:2719 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms, Anteverted nares |
OMIM:300672 |
Chops Syndrome |
|
Thickened helices, Short nose, Anteverted nares, Hearing impairment |
OMIM:616368 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears |
OMIM:613457 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Hearing im... |
OMIM:616894 |
Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Asplenia, Male infertility |
OMIM:244400 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Thickened helices, S... |
ORPHA:1340 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... |
OMIM:309801 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Cardiomyopathy... |
OMIM:608594 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal antihelix morphology, Anotia,... |
ORPHA:261112 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... |
OMIM:618332 |
Ayme-Gripp Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal br... |
OMIM:601088 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose, Bulbous no... |
OMIM:619522 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Bilateral sensorineural hearing... |
ORPHA:300570 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Microtia, Short nose, Hearing... |
OMIM:227330 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, Bicuspid aortic valve, Scoliosis, Cardiomegaly |
ORPHA:91387 |
Holoprosencephaly 7 |
|
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Repetitive compulsive behavior, Abnormal Eustachian tub... |
ORPHA:513456 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Overfolded helix, Abnor... |
OMIM:301044 |
Lathosterolosis |
|
Bulbous nose, Anteverted nares, Short nose, Hearing impairment |
ORPHA:46059 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Short nose, Narrow nose |
OMIM:617602 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose |
ORPHA:329178 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Anteverted nares, Abnormality of the ear, Hearing impairment |
ORPHA:3339 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure |
OMIM:181270 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Pallister-Hall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Microtia, At... |
OMIM:146510 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing i... |
ORPHA:580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tragus, Dysphagia, Sho... |
ORPHA:280633 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix, Short nose |
ORPHA:1974 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Posteriorly rotated ears, Depressed nasal bridge, Aggressive behavior, Bifid nose, Recurrent otit... |
OMIM:301066 |
Noonan Syndrome 3 |
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Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Thickened hel... |
OMIM:609942 |
Deeah Syndrome |
|
Low-set ears, Dysphagia, Prominent nasal tip, Short nose, Self-mutilation, Hearing impairment |
OMIM:619004 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:496641 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Macrotia, Anteverted nares, Short nose |
ORPHA:109 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Low-se... |
ORPHA:457395 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
Kinsship Syndrome |
|
Bulbous nose, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Low hanging columella |
OMIM:619297 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal... |
ORPHA:797 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Marshall-Smith Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Recurrent upper respiratory tract infe... |
OMIM:602535 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Depressed nasal bridge, Low-set ears, Short nose, Hearing impairment |
ORPHA:90652 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Recurrent upper respiratory t... |
ORPHA:264450 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Depressed nasal bridge, Anteverted nares, Prominent nasal br... |
OMIM:619325 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Protruding ear |
OMIM:230740 |
Witteveen-Kolk Syndrome |
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Wide nose, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Under... |
OMIM:613406 |
Congenital Myopathy 22B, Severe Fetal |
|
Short nose, Wide nasal bridge, Low-set ears |
OMIM:620369 |
Jacobsen Syndrome |
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Low-set, posteriorly rotated ears, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Wide nas... |
ORPHA:2308 |
Aymé-Gripp Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Stenosis of t... |
ORPHA:1272 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Wide nasal bridge, Self-injurious beha... |
ORPHA:468631 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Aggressive behavior, Protrudi... |
ORPHA:268261 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose |
ORPHA:50810 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Short ear, Hyperactivity, Anteverted nares, Posteriorly rotated ears, Aggressive behavior, Bulbou... |
OMIM:614756 |
Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:50945 |
Schneckenbecken Dysplasia |
|
Short nose |
OMIM:269250 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Anotia, Low-set ears, Thickened helices, Short nose, Hearing impairment |
ORPHA:3338 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Protruding ear, Low-set ears, Attention deficit hyperactivity disorder... |
OMIM:618820 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low... |
ORPHA:536467 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Broad nasal tip, Dysphagia, Abnormal cochlea morphology, Large earlobe... |
ORPHA:798 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Abnormal earlob... |
ORPHA:95699 |
Osteoglophonic Dysplasia |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion, Low-set ears, Short ... |
OMIM:166250 |
Khan-Khan-Katsanis Syndrome |
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Short nose, Dysphagia, Sensorineural hearing impairment |
OMIM:618460 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Orofaciodigital Syndrome Type 4 |
|
Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Depressed nasal rid... |
ORPHA:2753 |
Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Anteverted ea... |
OMIM:616268 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1358 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Pointed helix, Short nose, Choanal atresia |
ORPHA:3380 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Narrow nasal tip, Prominent nasal bridge, Protruding ear, Macrotia, Abnormal repet... |
ORPHA:464306 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Jacobsen Syndrome |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:147791 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias,... |
ORPHA:251510 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... |
ORPHA:90797 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, C... |
ORPHA:1507 |
Atelosteogenesis, Type I |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:108720 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia |
ORPHA:96191 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Wide nasal bridge |
OMIM:618005 |
Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Underfolded helix, Overfolded helix, Prominent antihelix, Short nose |
OMIM:268400 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Hyposmia, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618653 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... |
OMIM:176270 |
Robinow Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bro... |
ORPHA:97360 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Low-set ears, Jerky head movements, Hearing impairment |
ORPHA:369837 |
Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares |
OMIM:231050 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Lathosterolosis |
|
Conductive hearing impairment, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:607330 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... |
OMIM:268310 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge,... |
ORPHA:3107 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Prominent nasal bridge, Attention deficit hyperactivity disorder,... |
ORPHA:464311 |
Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Sh... |
OMIM:272460 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Sensorineural hearing impairment, Thick nasal septum, Protruding ear... |
OMIM:303600 |
Acrocallosal Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Wide nasal bridge, Low-set ears, Short nose,... |
OMIM:200990 |
Arterial Tortuosity Syndrome |
|
Short nose, Macrotia |
ORPHA:3342 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Low-set ears, Short ... |
ORPHA:536471 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Ring Chromosome 7 Syndrome |
|
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... |
ORPHA:1449 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Choanal stenosis, Low-... |
OMIM:269150 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Broad nasal tip, Cupped ear, Short columella... |
ORPHA:363611 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge |
ORPHA:90154 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Developmental And Epileptic Encephalopathy 100 |
|
Abnormal repetitive mannerisms, Depressed nasal bridge, Dysphagia, Broad nasal tip |
OMIM:619777 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Sensorineural hear... |
ORPHA:444077 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1519 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:271510 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Xanthelasma, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Bartsocas-Papas Syndrome 1 |
|
Underdeveloped nasal alae, Cupped ear, Microtia, Low-set ears, Short nose |
OMIM:263650 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Simple ear, Bul... |
OMIM:612474 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set e... |
ORPHA:2729 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Norrie Disease |
|
Narrow nasal bridge, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morpholog... |
ORPHA:649 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Phocomelia, Schinzel Type |
|
Short nose, Protruding ear |
ORPHA:2879 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Cupped ear, Wide nasal bridge, Overfolded helix, Short nose, Hearing impairment |
OMIM:609945 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Choanal atresia, Sen... |
ORPHA:199 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Depr... |
ORPHA:1606 |
Zttk Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:617140 |
Frontofacionasal Dysplasia |
|
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae |
OMIM:229400 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Wide nasal bridge, Hearing impairment |
ORPHA:508498 |
Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Depressed nasal bridge, Anteverted nares,... |
OMIM:259050 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Protruding ear, Short columella, Low-set ears, Short nose, Hearing impa... |
OMIM:601776 |
Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Abnormal helix morphology... |
ORPHA:373 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Depressed nasal bridge, Impulsivity, Prominent nose, Dysphagia, Prominent nasolabial fold, Stereo... |
OMIM:619503 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Narrow naris, Short... |
OMIM:617157 |
Lipodystrophy, Familial Partial, Type 7 |
|
Narrow nasal ridge, Low-set ears, Dysphagia, Short nose, Tinnitus |
OMIM:606721 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Depressed nasal ridge... |
ORPHA:828 |
Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... |
OMIM:180700 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hypoplasia of the ea... |
ORPHA:1308 |
Fontaine Progeroid Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Sh... |
OMIM:612289 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, Compulsive behaviors,... |
ORPHA:534 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Depressed nasal ridge, Micr... |
ORPHA:672 |
Femoral-Facial Syndrome |
|
Short nose, Abnormal pinna morphology, Low-set ears, Underdeveloped nasal alae |
OMIM:134780 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Protruding ear, Low-set ears, Dysphagia, Short nose, H... |
ORPHA:500150 |
Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Wide nasal bridge, Conductive hearin... |
OMIM:194190 |
Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Larg... |
OMIM:194050 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short columella, Con... |
ORPHA:709 |
Omodysplasia 1 |
|
Short nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:258315 |
Aspartylglucosaminuria |
|
Chronic otitis media, Short nose, Microtia, Wide nasal bridge |
ORPHA:93 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Bulbous nose, Abnormal repetitive mannerisms |
OMIM:616682 |
Penile Agenesis |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:49 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Short nose, Enlarged naris |
OMIM:271665 |
Sponastrime Dysplasia |
|
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... |
ORPHA:93357 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short nose, Convex nasal ridge |
OMIM:619321 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... |
ORPHA:79318 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Mowat-Wilson Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... |
ORPHA:261552 |
Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Pallister-Killian Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Stenosis o... |
OMIM:601803 |