Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
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 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... |
ORPHA:276580 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide l... |
ORPHA:276556 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... |
OMIM:610947 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... |
ORPHA:217607 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Atrial Standstill |
|
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... |
ORPHA:1344 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... |
ORPHA:860 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Cardiomyopathy, Dilated, 2F |
|
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... |
OMIM:619747 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Prominent n... |
ORPHA:100973 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:615184 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... |
OMIM:616201 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:255100 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose, Low-set, posteriorly rotated ears |
ORPHA:2015 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Small for gestational age, H... |
ORPHA:26793 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Weight loss, Goiter |
OMIM:188580 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... |
ORPHA:1329 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Low-set ears |
OMIM:614069 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Broad nasal tip, Spasticity |
OMIM:617393 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Round ear |
ORPHA:1450 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Prominent nasal tip, Hyperkinetic movements, Short nose, Choreoathetosi... |
OMIM:618218 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... |
ORPHA:263297 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Posteriorly rotated ears, Macrotia, Low-set ears, Prominent nasal ... |
OMIM:609425 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge |
OMIM:616430 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Prominent nasal bridge, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Spastic tetraparesis, Depressed nasal bridge, Short nose, Macrotia |
ORPHA:438178 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Weight lo... |
OMIM:613239 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Low-set ears, Short nose |
ORPHA:46 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Dil... |
OMIM:600649 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the outer ear, Short nose |
ORPHA:217340 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Developmental And Epileptic Encephalopathy 73 |
|
Sensorineural hearing impairment, Hypertonia, Short nose, Narrow nasal bridge |
OMIM:618379 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Prominent nose, Macrotia |
OMIM:615541 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria, Spastic paraple... |
ORPHA:251282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Left ventricular hypertrophy, Hypoglycemia, Decreased... |
OMIM:619048 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Broad nasal tip, Short nose, Speech apraxia |
OMIM:613670 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Failure to thrive, Hypocalcemia, Hypoplastic l... |
ORPHA:3426 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171420 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Hypertension, Tachycardia, Atrial septal defect |
OMIM:613870 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia |
OMIM:617830 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... |
OMIM:611878 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears |
ORPHA:1832 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Speech apraxia, Prominent nose, Low-set ears, Wide nasal bridge |
OMIM:618205 |
Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Broad nasal tip, Spasticity |
ORPHA:500545 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
Burn-Mckeown Syndrome |
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Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Absent Eyebrows And Eyelashes With Mental Retardation |
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Short nose, Convex nasal ridge, Progressive spastic quadriplegia |
OMIM:200130 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... |
ORPHA:552 |
Episodic Ataxia Type 4 |
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Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination |
ORPHA:79136 |
Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Diabetes mellitus... |
ORPHA:49827 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... |
OMIM:145600 |
Cardiomyopathy, Dilated, 1Nn |
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Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Facial Paresis, Hereditary Congenital, 3 |
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Sensorineural hearing impairment, Depressed nasal bridge, Short nose, Anteverted nares, Low-set e... |
OMIM:614744 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Anteverted nares, Depressed nasal bridge, Short nose, Low-set ears |
OMIM:613443 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Large fleshy ears, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Non-Distal Trisomy 10Q |
|
Depressed nasal bridge, Short nose, Convex nasal ridge, Low-set, posteriorly rotated ears |
ORPHA:1695 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Le... |
ORPHA:57777 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Atrial Septal Defect, Ostium Secundum Type |
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Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
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Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Increased circulating brain natriuretic pepti... |
OMIM:601494 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Bulbous nose, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia |
OMIM:617695 |
X-Linked Intellectual Disability, Cantagrel Type |
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Motor stereotypy, Short nose, Tetraparesis |
ORPHA:85277 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Tachycardia, Hyperglycemia |
OMIM:619737 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... |
ORPHA:264675 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Hemiplegia/hemiparesis, Short nose, Spasticity, Spastic tetraparesis |
ORPHA:833 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity |
OMIM:617820 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Large earlobe, Bulbous nose, Prominent ear helix, Broad nasal tip, Myoclonus, A... |
ORPHA:411986 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Tachycardia, Jun... |
ORPHA:137675 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Wide nasal bridge |
OMIM:619690 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Hypertonia, Hypoplasia of the semicircular canal, Dilated vesti... |
OMIM:611584 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Motor stereotypy, Hypertonia, Prominent nasal tip, Cerebral palsy, Spasticity, Repetitive compuls... |
ORPHA:352490 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:66628 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Sudden Cardiac Failure, Infantile |
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Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Elevated circulating ... |
OMIM:602668 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Clumsiness, Recurrent hand flapping, Wide nose, Posteriorly rotated ears, Wide nasal bridge |
OMIM:615032 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Hypertonia, Short nose, Protruding ear |
ORPHA:1495 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Hypertonia, Short nose, Stereotypical hand wringing |
OMIM:619854 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Bulbous nose, Recurrent hand flapping, Depressed nasal bridge, Macrotia, Anteverted nares |
OMIM:617268 |
Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Short nose |
OMIM:122880 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... |
OMIM:600996 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Microtia |
ORPHA:221054 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia, Congestive heart failure |
ORPHA:90037 |
Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, D... |
ORPHA:1529 |
17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Abnormal pyramidal sign, Short nose, Spastic tetraplegia, Macrotia, Low-set ears |
OMIM:615419 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Short nose, Macrotia, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Short nose, Low-set, posteriorly rotated ears |
ORPHA:261120 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Babinski sign, Hyperkinetic movements, Hearing impairment, Short nose, Spasticity, ... |
OMIM:616420 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hearing impairment, Short nasal septum, Anosmia |
OMIM:302950 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hypertension, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia |
OMIM:239500 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Atrial septal defect, Decreased response to growth hormone stimulation test, T... |
ORPHA:485405 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Motor stereotypy |
OMIM:619470 |
Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Bulbous nose, Short nose, Protruding ear |
OMIM:613458 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, Broad nasal tip, Recurrent upper respiratory tract infections, Oromotor a... |
ORPHA:391372 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Speech apraxia |
OMIM:245570 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Peho-Like Syndrome |
|
Short nose, Myoclonus |
OMIM:617507 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Tachycardia, Elevated circulating creatine kinase concentrat... |
OMIM:613327 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Mental Retardation, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, Low-set ears, Spasticity |
OMIM:618718 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hypertonia, Depressed nasal bridge, Broad columella, Short nose, Tics |
OMIM:617865 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Short nose, Low-set ears, Conductive hearing impairment |
OMIM:616910 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase concentration, Cardiomega... |
OMIM:614921 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Short nose, Low-set ears, Abnormal pinna morphology |
OMIM:613544 |
Miller-Dieker Syndrome |
|
Anteverted nares, Short nose, Ataxia |
ORPHA:531 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Abnormal pinna morphology, Microtia, Short nose, Low-set ears, Wide nasal bridge |
OMIM:613603 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Paten... |
OMIM:601005 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Macrotia, Hearing impairment, Prominent nasal bridge |
OMIM:619877 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fract... |
ORPHA:542323 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension, Co... |
OMIM:615812 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Low-set, posteriorly rotated ears |
ORPHA:2370 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose, Motor stereotypy |
ORPHA:228384 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Tachycardia, Elevated circulating creatine kinase concentration,... |
ORPHA:368 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration |
OMIM:601369 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Bulbous nose, Ataxia, Abnormal pinna morphology, Stereotypical hand wringing, M... |
OMIM:614104 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Bulbous nose, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia... |
ORPHA:280763 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Depressed nasal bridge, Progressive spasticity, Gait ataxia, Macrotia |
DECIPHER:45 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... |
ORPHA:157941 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea |
OMIM:618760 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171300 |
Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Pierpont Syndrome |
|
Large fleshy ears, Hypertonia, Broad nasal tip, Short nose, Wide nose, Hearing impairment, Poster... |
OMIM:602342 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Abnormal antihelix morphology, Bulbous nose, Protruding ear, Depressed nasal br... |
ORPHA:261144 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Recurrent hand flapping, Spasticity |
OMIM:618859 |
Tetanus |
|
Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Bradycardia |
ORPHA:3299 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Short nose, Stereotypical hand wringing, Myoclonus |
ORPHA:289266 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618378 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Torsade de pointes, Hyperammonemia, Premature t... |
OMIM:616878 |
Clark-Baraitser Syndrome |
|
Large earlobe, Low hanging columella, Depressed nasal bridge, Short nose, Anteverted nares, Low-s... |
OMIM:617752 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Dysmetria, Short nose, Spasticity, Oculomotor apraxia, Anteverted ears |
OMIM:618087 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Cebalid Syndrome |
|
Abnormal pinna morphology, Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Sho... |
OMIM:618774 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypertonia, Microtia, Depressed nasal bridge, Short nose, Spastic tetraparesis, Anteverted nares,... |
ORPHA:171839 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Sensorineural hearing impairment, Protruding ear, Tremor, Anteverted nares, Low... |
OMIM:618342 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Hearing impairment, Short nose, Wide nasal bridge |
OMIM:614078 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Hypertonia, Bulbous nose, Depressed nasal bridge, Short nose, Hearing impairment, Prominent nasal... |
OMIM:618828 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Wide nose, Short nose, Anteverted nares, Low-set ea... |
OMIM:300209 |
Edinburgh Malformation Syndrome |
|
Hypertonia, Short nose, Choanal atresia, Anteverted nares, Low-set ears |
ORPHA:1895 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Bulbous nose, Prominent nose, Recurrent hand flapping |
OMIM:618916 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Short nose, Macrotia, Limb tremor, Wide nasal bridge |
OMIM:218000 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... |
ORPHA:980 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hypertonia, Abnormal pinna morphology, Depressed nasal bridge, Short nose, Wide nose, Spasticity,... |
OMIM:613457 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Gms Syndrome |
|
Depressed nasal bridge, Short nose, Low-set ears, Microtia |
OMIM:138770 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... |
ORPHA:91547 |
Perlman Syndrome |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Thickened helices, Wide nas... |
ORPHA:2849 |
Spinocerebellar Ataxia With Dysmorphism |
|
Anteverted nares, Short nose, Babinski sign, Ataxia |
OMIM:271270 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Hy... |
ORPHA:528 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose, Spasticity |
ORPHA:2429 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Al-Raqad Syndrome |
|
Low-set ears, Short nose |
OMIM:616459 |
Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Cardiac amyloidosis, Left ventricula... |
ORPHA:439232 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping |
OMIM:620021 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Short nose, Hearing impairment, Wide nasal bridge |
OMIM:614207 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypertonia, Overfolded helix, Short nose, Posteriorly rotated ears, Macrotia, Prominent nasal bri... |
ORPHA:2083 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Hearing impairment, Short nose, Low-set ears, Posteriorly rotated ears |
OMIM:613604 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension, Hypokalemia |
ORPHA:330021 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... |
OMIM:615954 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Broad nasal tip, Depressed nasal bridge, Low-set... |
OMIM:617808 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Convex nasal ridge, Depressed nasal bridge, Macrotia, Hearing impairment, Wide ... |
OMIM:618027 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Atrial septal defect, Small for gestational age, Hypothyroidism, Hypocholester... |
OMIM:610883 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Distal Monosomy 10Q |
|
Ataxia, Protruding ear, Cochlear malformation, Poor fine motor coordination, Congenital sensorine... |
ORPHA:96148 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia |
ORPHA:90036 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Depressed nasal bridge, Bilateral conductive hearing impairment, Short nose, Lo... |
OMIM:617802 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... |
OMIM:300257 |
Chung-Jansen Syndrome |
|
Anteverted nares, Short nose, Macrotia |
OMIM:617991 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Low hanging columella, Anteverted nares, Prominent nasal bridge, Underdeveloped... |
OMIM:618825 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Short nose, Depressed nasal ridge |
OMIM:613885 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad nasal tip, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Wide nasal... |
OMIM:618529 |
Christianson Syndrome |
|
Motor stereotypy, Truncal ataxia, Abnormality of the nose, Gait ataxia, Macrotia |
ORPHA:85278 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia |
ORPHA:79273 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Convex nasal ridge, Depressed na... |
ORPHA:87 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Pontocerebellar Hypoplasia, Type 10 |
|
Hypertonia, Short nose, Spasticity, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:615803 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears |
ORPHA:544254 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Neonatal h... |
ORPHA:348 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Abnormal pinna morphology, Myoclonus, Recurrent upper respiratory tract infections, S... |
ORPHA:3078 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Spasticity, Chorea |
ORPHA:88616 |
Potocki-Shaffer Syndrome |
|
Short nose, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:601224 |
Foxg1 Syndrome |
|
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... |
ORPHA:561854 |
Paragangliomas 4 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Paraganglioma of head and ne... |
OMIM:115310 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Increased circulating farnesol concentration, Hypocholesterolemia, Decreas... |
OMIM:618156 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis |
OMIM:619317 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
Vitamin K Antagonist Embryofetopathy |
|
Microtia, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares, Hearing impairment |
ORPHA:1914 |
Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Hypertonia, Opisthotonus, Myoclonus, Wide nose, Short nose, Spasticity, Spastic te... |
OMIM:615851 |
Microcephaly-Capillary Malformation Syndrome |
|
Myoclonus, Hearing impairment, Wide nose, Short nose, Spastic tetraparesis, Low-set ears |
OMIM:614261 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Depressed nasal bridge, Rigidity, Chorea, Progressive spasticity, Repet... |
OMIM:300260 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Short nose, Macrotia |
ORPHA:99688 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
16P11.2P12.2 Microdeletion Syndrome |
|
Bulbous nose, Abnormal pinna morphology, Long nose, Chronic otitis media, Hearing impairment, Sho... |
ORPHA:261211 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertriglyceridemia, H... |
OMIM:615238 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Abnormal bl... |
ORPHA:173 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Neonatal hypoglycemia... |
OMIM:261740 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Broad nasal tip, Low-set, posteriorly rotated ears, Short nose, Anteverted nare... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Long nose, Depress... |
OMIM:300912 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Short columella |
ORPHA:1248 |
Carney Triad |
|
Adrenocortical adenoma, Tachycardia, Arrhythmia, Paraganglioma, Pheochromocytoma, Adrenal overact... |
ORPHA:139411 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Ataxia, Poor coordination, Depressed nasal bridge, Short nose, Spasticity, Low-set ... |
OMIM:618430 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Recurrent hand flapping, Low hanging columella, Tics, Recurrent otitis media, Wide nasal bridge, ... |
OMIM:617788 |
Fetal Trimethadione Syndrome |
|
Abnormal helix morphology, Overfolded helix, Depressed nasal bridge, Short nose, Low-set ears |
ORPHA:1913 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Depressed nasal bridge, Hearing impairment, Tremor, Low-set ears |
ORPHA:238750 |
Atypical Rett Syndrome |
|
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... |
ORPHA:3095 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Adrenal hyperplasia, Prolonge... |
ORPHA:251274 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Tachycardia |
OMIM:229700 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears |
OMIM:300887 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Developmental And Epileptic Encephalopathy 75 |
|
Babinski sign, Short nose, Spasticity, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Hypertonia, Protruding ear, Low-set, posteriorly rotated ears, Hearing abnormality, Short nose, A... |
ORPHA:2031 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Short nose, Macrotia, Anteverted nares, Hearing impairment |
ORPHA:2701 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Short nose |
ORPHA:1389 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Sensorineural hearing impairment, Low hanging columella, Recurrent otitis media... |
OMIM:617751 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge |
OMIM:610015 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyp... |
OMIM:103900 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... |
ORPHA:94093 |
Jaberi-Elahi Syndrome |
|
Protruding ear, Dysmetria, Depressed nasal bridge, Appendicular spasticity, Tremor, Short nose, C... |
OMIM:617988 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Hypoinsulinemia, Syncope |
OMIM:616260 |
Ohdo Syndrome |
|
Microtia, Stenosis of the external auditory canal, Depressed nasal bridge, Short nose, Anteverted... |
OMIM:249620 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction |
ORPHA:1964 |
Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Short nose |
ORPHA:969 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Absent brainstem auditory responses, Ataxia, Hypoplasia of the semicircular canal, S... |
OMIM:609136 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking |
OMIM:204000 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bulbous nose, Ataxia, Spastic paraparesis, Depressed nasal bridge, Hearing impairment, Short nose... |
ORPHA:369891 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Hypertension |
ORPHA:363400 |
Teebi Hypertelorism Syndrome 2 |
|
Broad nasal tip, Depressed nasal bridge, Short nose, Hearing impairment |
OMIM:619736 |
Distal Trisomy 18Q |
|
Low-set, posteriorly rotated ears, Short nose, Choanal atresia, Anteverted nares, Prominent nasal... |
ORPHA:1716 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Short nose |
OMIM:300143 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Sensorineural hearing impairment, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Short nose, Convex nasal ridge, Microtia |
ORPHA:2145 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Anteverted nares, Hearing impairment, Motor stereotypy |
OMIM:616351 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Myoclonus, Short nose, Gait ataxia, Spasticity, Anteverted nares, Low-set ears |
OMIM:103050 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Bulbous nose, Overfolded helix, Depressed nasal bridge, Tremor, Short nose, Mac... |
OMIM:617061 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Palpitations, Hypotension, Increased circulating ... |
OMIM:263800 |
Alazami Syndrome |
|
Motor stereotypy, Low-set ears, Wide nose, Stereotypical hand wringing |
ORPHA:319671 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... |
ORPHA:444013 |
Sepsis In Premature Infants |
|
Decreased body weight, Elevated circulating C-reactive protein concentration, Small for gestation... |
ORPHA:90051 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears, Bulbous nose, Wide nasal bridge |
OMIM:613174 |
Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased body weight, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, H... |
ORPHA:340 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... |
ORPHA:275864 |
Codas Syndrome |
|
Sensorineural hearing impairment, Overfolded helix, Depressed nasal bridge, Crumpled ear, Short n... |
ORPHA:1458 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Short nose, Low-set ears |
OMIM:614732 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia |
OMIM:614653 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Broad nasal tip |
OMIM:615637 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Prominent nose, Macrotia |
ORPHA:391307 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... |
ORPHA:31826 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Short nasal bridge, Spasticity, Repetitive compulsive ... |
ORPHA:401777 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal cardio... |
ORPHA:79086 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Abnormal pyramidal sign, Short nose, Spastic tetraplegia, Hearing impairment |
OMIM:256600 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating re... |
ORPHA:320 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98855 |
Porphyria Variegata |
|
Inappropriate antidiuretic hormone secretion, Tachycardia, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Hearing impairm... |
OMIM:618619 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Morphological abnormality of the middle ear, Abnormality of the outer ear, Hear... |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Recurrent hand flapping, Wide nasal bridge |
OMIM:613192 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Bilateral choanal atresia, Short nose, Choanal atresia, Choanal stenosis,... |
OMIM:619859 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Myoca... |
ORPHA:36234 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Short nose, Posteriorly rotated ears, Thick nasal alae |
ORPHA:163961 |
Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears |
OMIM:601853 |
Tetrasomy 18P |
|
Short nose, Low-set, posteriorly rotated ears |
ORPHA:3307 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Adrena... |
ORPHA:99827 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia |
ORPHA:2547 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Spastic ataxia |
OMIM:618906 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98853 |
Shukla-Vernon Syndrome |
|
Motor stereotypy, Wide nasal base |
OMIM:301029 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Large earlobe, Bulbous nose, Prominent nasal tip, Ataxia, Conductive hearing im... |
OMIM:619312 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Microtia, Depressed nasal bridge, Short nose, Wide nose, Anteverted nares, Low-set ears |
OMIM:613320 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Abnormal speech discrimination, Wide nasal bridge |
ORPHA:397612 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Microtia, Attached earlobe, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short nose... |
ORPHA:1327 |
Wild Type Attr Amyloidosis |
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Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circulating creatin... |
OMIM:223900 |
Necrotizing Enterocolitis |
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Small for gestational age, Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal glucose homeos... |
ORPHA:391673 |
Rett Syndrome, Congenital Variant |
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Motor stereotypy, Bulbous nose, Protruding ear, Depressed nasal bridge, Tongue thrusting, Chorea,... |
OMIM:613454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Motor stereotypy, Long nose, Gait ataxia, Prominent nose, Spasticity, Macrotia |
OMIM:300486 |
Serotonin Syndrome |
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Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Atrial Fibrillation, Familial, 7 |
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Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Mpi-Cdg |
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Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Portal hyperte... |
ORPHA:79319 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Low hanging columella, Broad col |