Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi... |
OMIM:618815 |
Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Exaggerated star... |
OMIM:608800 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... |
OMIM:616201 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Delayed proximal fem... |
ORPHA:95717 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618235 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Dystonia, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... |
ORPHA:66529 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Gait disturbance, Hypogonadism, Arr... |
OMIM:609286 |
Familial Thyroid Dyshormonogenesis |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... |
ORPHA:95716 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... |
OMIM:614022 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Truncal ataxia, Intention tremor, Dystonia, Atrioventricular block |
OMIM:614407 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... |
OMIM:617222 |
Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... |
OMIM:115200 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... |
OMIM:604772 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... |
OMIM:212138 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Bradycardia |
OMIM:614654 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Delayed epiphyseal ossification, ... |
ORPHA:226313 |
Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Opisthotonus, Bradycardia |
OMIM:619814 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Hypothyroidism, Atrioventric... |
OMIM:601005 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval |
ORPHA:542306 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... |
ORPHA:90673 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Dystonia, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Leg dystonia, Bradycardia, Loss of ambulation, Cryptorchidism |
ORPHA:565624 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... |
OMIM:601154 |
Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... |
OMIM:615745 |
Tetanus |
|
Bradycardia, Hypertension, Tremor, Opisthotonus, Tachycardia |
ORPHA:3299 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Opisthotonus, Hypospadias, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit... |
ORPHA:90674 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
Kennedy Disease |
|
Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula... |
ORPHA:481 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Azoospermia, Cardiomyopathy, Testicular atrophy, Osteoporosis, Impotenc... |
OMIM:235200 |
Spinocerebellar Ataxia 32 |
|
Infertility, Ataxia, Testicular atrophy, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... |
ORPHA:3286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Difficulty walking, Sinus bradycardia, Loss of ambulation, Syncope, Palpitations, Second degree a... |
OMIM:616812 |
Sheehan Syndrome |
|
Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insuff... |
ORPHA:91355 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Osteoporos... |
OMIM:613327 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Congenital Myopathy 22A, Classic |
|
Osteoporosis, Waddling gait, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, First degree atrioventricular ... |
OMIM:160900 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
D-Glyceric Aciduria |
|
Opisthotonus, Micropenis, Bradycardia |
OMIM:220120 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension, Bradycardia |
OMIM:232500 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... |
ORPHA:439232 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Congestive heart failure, Erectile dysfunction, Elevated jugular venous pressure, Decreased libid... |
ORPHA:465508 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... |
OMIM:614954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Testicular atrophy |
OMIM:313200 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Bradycardia |
ORPHA:83600 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... |
ORPHA:216694 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... |
OMIM:612098 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
Necrotizing Enterocolitis |
|
Lethargy, Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Tremor, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, L... |
OMIM:277400 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... |
OMIM:218700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Tremor, Hype... |
OMIM:613239 |
Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Abnormality of thyr... |
ORPHA:563 |
Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Bradycardia, Hypertension, Tremor, Hypotension, Hypertensive crisis, Arrhythmi... |
ORPHA:94093 |
Wolfram Syndrome 1 |
|
Diabetes insipidus, Tremor, Cardiomyopathy, Hypothyroidism, Ataxia, Diabetes mellitus, Testicular... |
OMIM:222300 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Ventricular fibrillation, Tachycardia |
OMIM:603829 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Stiff-Person Syndrome |
|
Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Bradycardia |
ORPHA:70 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Bradycardia, Resting tremor, Hypotension, Subconjunctival hemorrhage, Shock |
ORPHA:319213 |
Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ... |
ORPHA:99827 |
Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Exaggerated startle response, Hypothyroidism, Diabetes mellitus |
ORPHA:3198 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... |
OMIM:608643 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia, Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug... |
OMIM:605373 |
Coronary Arterial Fistula |
|
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... |
ORPHA:2041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Secondary amenorrhea, Hypergonadot... |
OMIM:157640 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia, Dystonia |
OMIM:618397 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Marburg Hemorrhagic Fever |
|
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... |
ORPHA:99826 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Az... |
ORPHA:1772 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Inability to walk, Cholelithiasis, Bradycardia |
ORPHA:97297 |
Hyperekplexia 3 |
|
Syncope, Exaggerated startle response |
OMIM:614618 |
Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... |
ORPHA:137675 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation |
OMIM:261990 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cryptorchidism |
OMIM:620327 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria |
OMIM:618056 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Bradycardia |
OMIM:617248 |
Steinert Myotonic Dystrophy |
|
Impotence, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Hyperins... |
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 |
Tay-Sachs Disease |
|
Inability to walk, Tremor, Gait disturbance, Exaggerated startle response, Precocious puberty, Dy... |
ORPHA:845 |
Yellow Fever |
|
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... |
ORPHA:99829 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Choreoathetosis, Opisthotonus, Dystonia |
OMIM:300322 |
Sandhoff Disease |
|
Impotence, Ataxia, Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Exaggerated startle response |
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 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
X-Linked Intellectual Disability, Snyder Type |
|
Inability to walk, Hypospadias, Abnormality of the Leydig cells, Osteoporosis, Unsteady gait, Cry... |
ORPHA:3063 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia |
OMIM:614437 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia |
OMIM:620451 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Inability to walk, Broad-based gait, Abnormality of the endocrine system, Exaggerated... |
ORPHA:438213 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Difficulty walking |
OMIM:619482 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Dilated cardiomyopathy, Exaggerated startle response |
OMIM:253800 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response |
ORPHA:79255 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Lethargy, Exaggerated startle response |
OMIM:620423 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Congenital hypothyroidism |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
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 |
|
Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Cryptorchidi... |
OMIM:619522 |
Holt-Oram Syndrome |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... |
OMIM:142900 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |