Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Generalized dystonia, Bradycardia, Cardiac arrest |
OMIM:618235 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Dystonia |
OMIM:616277 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cln3 Disease |
|
Ataxia, Increased circulating androgen concentration, Bradykinesia, T-wave inversion, Bradycardia... |
ORPHA:228346 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Truncal ataxia, Bradycardia, Dystonia, Intention tremor |
OMIM:614407 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... |
ORPHA:95716 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopa... |
OMIM:609286 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Dystonia |
OMIM:616299 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
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 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Dystonia |
OMIM:614654 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:226313 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Opisthotonus |
OMIM:619814 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dystonia |
OMIM:614702 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Leg dystonia, Tip-toe gait, Bradycardia, Loss of ambulation |
ORPHA:565624 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Tetanus |
|
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia |
ORPHA:3299 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Osteoporosis, Telangi... |
OMIM:235200 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia, Opisthotonus |
OMIM:619272 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Delayed prox... |
ORPHA:90674 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Cholelith... |
OMIM:160900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
D-Glyceric Aciduria |
|
Micropenis, Bradycardia, Opisthotonus |
OMIM:220120 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Osteoporosis, Hyperinsulinem... |
OMIM:613327 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Osteoporosis, Bradycardia |
OMIM:620351 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Bradycardia |
ORPHA:83600 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Necrotizing Enterocolitis |
|
Shock, Lethargy, Bradycardia, Hypotension |
ORPHA:391673 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Tes... |
ORPHA:465508 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Cardiomyopathy, Hypothyroidism, Testicular... |
OMIM:222300 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Hypertension, Bradycardia, Hypotensio... |
ORPHA:94093 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... |
ORPHA:563 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Bradycardia, Difficulty walking |
ORPHA:70 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Exaggerated startle response, Opisthotonus, Hypertension |
OMIM:184850 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Epididymitis, Hemop... |
ORPHA:99827 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Hypothyroidism |
ORPHA:3198 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrh... |
OMIM:157640 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Orchitis, Hypovolemia, Capillary leak, Subconjunctival hemorrha... |
ORPHA:99826 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Dystonia, Sinus bradycardia |
OMIM:618397 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Bohring-Opitz Syndrome |
|
Inability to walk, Cholelithiasis, Annular pancreas, Bradycardia |
ORPHA:97297 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope |
OMIM:614618 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response |
OMIM:620327 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Bradycardia, Dystonia |
OMIM:617248 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Dystonia, Testicular atrophy, Opisthotonus |
OMIM:300322 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Sandhoff Disease |
|
Orthostatic hypotension, Ataxia, Impotence, Exaggerated startle response |
OMIM:268800 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Reduced ... |
ORPHA:99829 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Inability to walk, Tremor, Dysmetria, Gait dist... |
ORPHA:845 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Osteoporosis, Bradycardia |
ORPHA:79404 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Exaggerated startle response |
ORPHA:309155 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Inability to walk, Unsteady gait, Osteoporosis, Abnormality of the L... |
ORPHA:3063 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:253800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Broad-based gait, Exaggerated startle response, Abnormality of the endocrine system, ... |
ORPHA:438213 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Congenital hypothyroidism |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpo... |
OMIM:619522 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |