| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory failure, Respiratory insufficiency |
OMIM:613869 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension, Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
| Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Abnormal circulating enzyme concentration or activity, Respiratory fail... |
ORPHA:132 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Apnea, Respiratory failure, Bradycardia |
OMIM:616277 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... |
ORPHA:45452 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Apnea, E... |
OMIM:619048 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Tachypnea, Bradycardia, Tachycardia, Nasal flaring, Respiratory failure |
ORPHA:70587 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure |
OMIM:619773 |
| Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Apnea, Neonatal death |
OMIM:615228 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
OMIM:618236 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insu... |
OMIM:620265 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... |
ORPHA:101016 |
| Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Dyspnea, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ven... |
ORPHA:3282 |
| Tetanus |
|
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... |
ORPHA:3299 |
| Congenital Myopathy 14 |
|
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Abnormal motor nerve conduction velocity, Facial... |
OMIM:614399 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Apnea, Optic disc pallor |
OMIM:618228 |
| Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Increased circulating lactate dehydrogenase concentration, Apnea, ... |
ORPHA:168486 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Apnea, Bradycardia |
OMIM:618235 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy, Apnea |
OMIM:617933 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Apnea, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
| Developmental And Epileptic Encephalopathy 71 |
|
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest, Neonatal death |
OMIM:620203 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Auriculocondylar Syndrome 4 |
|
Apnea |
OMIM:620457 |
| Congenital Myopathy 11 |
|
Apneic episodes in infancy, Neonatal respiratory distress, Elevated circulating hepatic transamin... |
OMIM:619967 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Dyspnea, Respiratory failure, Abnormal seventh cr... |
ORPHA:90117 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Central hypoventilation, Apnea, Respiratory insufficiency |
OMIM:300673 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Apnea, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Reduced tissue fructose-1,6-bisphosphatase activity, Dyspnea, Hyperventilation, Tachycardia |
OMIM:229700 |
| Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Respiratory insufficiency due to muscle weakness |
OMIM:618960 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea |
OMIM:610992 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous syste... |
ORPHA:369873 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... |
ORPHA:330001 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea, Bradycardia |
OMIM:610015 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Neonatal death, Tachypnea, Pulmonary arterial hypertension,... |
OMIM:265120 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Episodic tachypnea, Apnea, Abnormal circulating enzyme concentration or activity, Optic disc pall... |
ORPHA:79264 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Hyperventilation, Apnea, Abnormal autonomic nervous system physiology |
OMIM:617903 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Abnormal pattern of respiration, Bradycardia |
OMIM:608800 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Respiratory distress, Central apnea, Dyspnea, Respiratory failure requ... |
ORPHA:70589 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea |
OMIM:617235 |
| Developmental And Epileptic Encephalopathy 101 |
|
Apnea, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Peripartum Cardiomyopathy |
|
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Orthopnea, Tach... |
ORPHA:563 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure |
OMIM:263000 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency |
OMIM:616276 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology, Abnormal pattern of res... |
ORPHA:168593 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:618226 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he... |
OMIM:212138 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness... |
ORPHA:254875 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Respiratory insufficienc... |
OMIM:611890 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea, Neonatal respiratory distress |
OMIM:267450 |
| Hyperekplexia 3 |
|
Respiratory arrest, Syncope, Apnea |
OMIM:614618 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Central hypoventilation, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopat... |
OMIM:620167 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions |
ORPHA:137935 |
| Tako-Tsubo Cardiomyopathy |
|
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B... |
ORPHA:66529 |
| Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Abnormal cranial nerve morphology, Abnormal autonomic nervous system p... |
ORPHA:97229 |
| Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory distress, Hypertrop... |
OMIM:614299 |
| Atypical Rett Syndrome |
|
Episodic tachypnea, Abnormal pattern of respiration, Abnormal autonomic nervous system physiology... |
ORPHA:3095 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... |
ORPHA:226313 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea, Decreased liver function, Elevated circulating hepatic transaminase concentration |
OMIM:614883 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Re... |
ORPHA:2590 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Increased circulating lactate dehydrogenase concentration, Respiratory insufficiency, Respiratory... |
ORPHA:308552 |
| Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Central hypoventilation, Nocturnal hypoventilation, Apnea, Decreased heart rate variability, Hypo... |
OMIM:209880 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
OMIM:616896 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Acute Lung Injury |
|
Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Neonatal respiratory distress, Respiratory failure |
OMIM:619057 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... |
ORPHA:95717 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Nemaline Myopathy 8 |
|
Facial palsy, Respiratory failure |
OMIM:615348 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Apnea |
OMIM:619527 |
| Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... |
ORPHA:542323 |
| Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea |
OMIM:612285 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Elevated circulating hepatic transaminase concentration, Decreas... |
OMIM:616299 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Hepatic failure, Apnea, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Nocturnal hypoventilation, Dyspnea, Respiratory failure |
OMIM:620326 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy, Elevated circulating hepatic transaminase concentration, Hypertension |
OMIM:619111 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Ventilator dependence with inability to wean, Res... |
OMIM:604320 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachycardia, Tachypnea, Respiratory failure requiring assisted ventilation |
ORPHA:264675 |
| Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory failure |
ORPHA:890 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Respiratory distress, Episodic tachypnea... |
ORPHA:348 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
| Nemaline Myopathy 2 |
|
Apnea, Respiratory insufficiency due to muscle weakness |
OMIM:256030 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:618253 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... |
ORPHA:159 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Apnea, Elevated circulating hepatic transaminase concentration, Respiratory insufficiency |
OMIM:608093 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Respiratory distress, Apnea, Neonatal death, Tachypnea, Exertional... |
OMIM:610921 |
| Mercury Poisoning |
|
Hypotension, Respiratory distress, Dyspnea, Tachycardia, Hypertension, Respiratory failure |
ORPHA:330021 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Apnea, Hypoventilation, Facial palsy |
OMIM:617143 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea |
OMIM:611523 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Respiratory distress, Shock, Tachypnea, Increased circulating procalcitonin concentr... |
ORPHA:36238 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea |
ORPHA:71277 |
| Multiple System Atrophy |
|
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... |
ORPHA:102 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Dyspnea, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, S... |
OMIM:613838 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency |
OMIM:614462 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure |
OMIM:312170 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
| Propionic Acidemia |
|
Cardiomyopathy, Apnea, Propionyl-CoA carboxylase deficiency, Tachypnea, Cerebellar hemorrhage |
OMIM:606054 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Tachycardia, Hypertension, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Respiratory insufficiency |
OMIM:614654 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Apnea, Hypertension, Respiratory insufficiency |
OMIM:618886 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Hypoventilation, ... |
OMIM:310200 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiom... |
OMIM:261740 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Increased circulating lactate dehydrogenase concentration, Abnormality of peripher... |
ORPHA:35069 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Aspiration, Bradycardia, Retinal hemorrhage, Tachycardia, H... |
OMIM:614653 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia, Respiratory insufficiency due to muscle weakness, Dyspnea, Re... |
ORPHA:352447 |
| Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... |
ORPHA:98933 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Jaundice, Respiratory failure, Decreased methionine synthase activity |
OMIM:250940 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Abnormal autono... |
ORPHA:441 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Respiratory failure |
OMIM:604801 |
| Rett Syndrome |
|
Intermittent hyperventilation, Apnea, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Apnea, Increased circulating cortisol level, H... |
ORPHA:79644 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal circula... |
ORPHA:70472 |
| Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Avian Influenza |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:454836 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Cardiomyopathy |
OMIM:600721 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Pulmonary hemorrhage |
OMIM:616414 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Elevated circulating aspartate aminotra... |
OMIM:245400 |
| Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Facial diplegia, Hypoventilation, Intercostal muscle weakness, Bra... |
ORPHA:70 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:619386 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Elevated circulating hepatic transaminase concentration, Dilated c... |
OMIM:608836 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy |
OMIM:314580 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Primary Pulmonary Hypoplasia |
|
Tachypnea, Apnea, Neonatal respiratory distress |
ORPHA:2257 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... |
ORPHA:99106 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Tachypnea, Syncope, Dyspnea |
ORPHA:60032 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Developmental And Epileptic Encephalopathy 99 |
|
Central apnea |
OMIM:619606 |
| Multiple System Atrophy, Cerebellar Type |
|
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... |
ORPHA:227510 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Hypopnea, Apnea, Neonatal death, Respiratory arrest, Bradycardia, Jaundice, Respiratory failure |
OMIM:617248 |
| Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Respiratory insufficiency, Exertional ... |
ORPHA:723 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Dyspnea, Atrial ... |
ORPHA:99105 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... |
ORPHA:85443 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Subdural hemorrhage, Respiratory insufficiency due to muscle ... |
OMIM:618291 |
| Hypophosphatasia, Infantile |
|
Low alkaline phosphatase, Intracranial hemorrhage, Apnea, Stillbirth |
OMIM:241500 |
| Intermediate Nemaline Myopathy |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:171433 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
| Joubert Syndrome |
|
Aganglionic megacolon, Episodic tachypnea, Apnea, Abnormal pattern of respiration |
ORPHA:475 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia |
OMIM:614702 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| High Altitude Pulmonary Edema |
|
Dyspnea, Tachycardia, Tachypnea, Orthopnea |
ORPHA:330012 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Apnea, Respiratory failure |
OMIM:617301 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Bradycardia, ... |
OMIM:617397 |
| Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Tachypnea, Respiratory failure |
OMIM:615838 |
| Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Decreased liver function, Respiratory distress, Hypertrophic cardiomyopathy, Exert... |
OMIM:220110 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory insufficiency |
OMIM:618222 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr... |
ORPHA:2131 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Abnor... |
ORPHA:255210 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Apnea, Congesti... |
OMIM:620646 |
| Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Biotinidase Deficiency |
|
Optic atrophy, Respiratory distress, Apnea, Decreased circulating biotinidase concentration, Hype... |
ORPHA:79241 |
| Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Angina pectoris, Decreased alpha-galactosida... |
OMIM:301500 |
| Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Tachypnea, Apnea |
ORPHA:2318 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Respiratory distress, ... |
ORPHA:206436 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Paroxysmal dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ... |
ORPHA:444013 |
| Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Apnea, Decreased circulating biotinidase concentration |
OMIM:253260 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Respiratory distress, Congestive heart failure, Optic disc pallor, Res... |
OMIM:615512 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Myocardial infarction, Tachycardia,... |
ORPHA:449285 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Exertional dyspnea, Orthopnea, Respiratory failure, Facial palsy |
ORPHA:98913 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent fetal circulation, Papilledema, Bradycardia, Hyperventila... |
OMIM:618775 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| 48,Xxyy Syndrome |
|
Apnea |
ORPHA:10 |
| Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... |
ORPHA:95716 |
| D-Glyceric Aciduria |
|
Reduced hepatic D-glycerate kinase activity, Neonatal respiratory distress, Optic nerve hypoplasi... |
OMIM:220120 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Apnea |
OMIM:210200 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... |
ORPHA:26793 |
| Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Central hypoventilation |
ORPHA:99803 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Reduced circulating aromatic L-amino acid decarboxylase activity, Apnea, Cardiorespi... |
OMIM:608643 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
| Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
| Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Respiratory failure, Degeneration of anterior horn cells |
ORPHA:2254 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts, Tachypnea |
OMIM:245050 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d... |
OMIM:618186 |
| Joubert Syndrome 3 |
|
Episodic tachypnea, Central apnea |
OMIM:608629 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Respiratory insu... |
OMIM:609015 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Necrotizing Enterocolitis |
|
Shock, Hypotension, Apnea, Bradycardia |
ORPHA:391673 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Syncope, Apnea, Raynaud phenomenon |
OMIM:616260 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Decreased liver function |
ORPHA:79327 |
| Wolfram Syndrome |
|
Optic atrophy, Gastrointestinal hemorrhage, Cardiomyopathy, Respiratory insufficiency, Central ap... |
ORPHA:3463 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ... |
OMIM:616482 |
| Sepsis In Premature Infants |
|
Hypotension, Decreased liver function, Bradycardia, Dyspnea, Jaundice, Tachycardia, Nasal flaring |
ORPHA:90051 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure |
OMIM:618240 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Elevated circulating hepatic transaminase concentration, Increased circ... |
ORPHA:26791 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Hypotension, Shock, Dyspnea, Respiratory failure |
ORPHA:70578 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hypertension, Respiratory failure |
ORPHA:363400 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Optic atrophy, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... |
ORPHA:1329 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure |
OMIM:603689 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated circulating hepatic transaminase concentration, Abnormal pattern of respiration, Optic d... |
ORPHA:1454 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Abnormal circulating enzyme concentration or activity, Decreased nerve conduct... |
ORPHA:565624 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Neonatal death, Bradycardia, Respiratory insufficiency |
OMIM:620351 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Hypertension, Respiratory failure |
ORPHA:79126 |
| Myotonia Fluctuans |
|
Apnea |
ORPHA:99734 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Apn... |
ORPHA:20 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Jaundice, Apnea, Optic nerve dysplasia |
OMIM:214110 |
| Mogs-Cdg |
|
Optic atrophy, Respiratory distress, Apnea, Hypoventilation, Absent brainstem auditory responses |
ORPHA:79330 |
| Porphyria Variegata |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:79473 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta... |
ORPHA:319213 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea, Elevated circulating hepatic transaminase concentration, Decreased liver func... |
OMIM:615160 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Respiratory distress, Tachypnea, Pulmonary arterial hypertension, Dysp... |
OMIM:610913 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Facial paralysis, Respiratory insufficiency, Neonatal death, Pulmonary arterial hypertension, Res... |
OMIM:605711 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy |
OMIM:608390 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Increa... |
ORPHA:94093 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia |
ORPHA:464453 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Prolonged QT interval,... |
OMIM:613327 |
| Serotonin Syndrome |
|
Hypotension, Hepatic failure, Abnormality of the autonomic nervous system, Tachypnea, Tachycardia... |
ORPHA:43116 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral vasculitis |
ORPHA:83601 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy, Optic atrophy |
ORPHA:3078 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Arrhythmia, Respiratory failure, Congestive heart failure |
ORPHA:1194 |
| Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Episodic respiratory d... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Episodic respiratory d... |
ORPHA:98914 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Syncope, Bradycardia, Jaw ... |
ORPHA:221098 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Neonatal respiratory distress, Optic nerve hypoplasia, Abnormal circulating enzyme concentration ... |
ORPHA:79345 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens... |
ORPHA:98755 |
| Asbestos Intoxication |
|
Right ventricular failure, Exertional dyspnea, Hepatojugular reflux, Dyspnea, Respiratory failure |
ORPHA:2302 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Facial palsy, Respiratory failure |
OMIM:606612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophic ... |
OMIM:252010 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Respiratory arrest, Tach... |
OMIM:201475 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... |
OMIM:169500 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Hypoventilation, Sinus bradycardia |
OMIM:619482 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Respiratory insufficiency, Reduced left ventricular ejection fraction, Hypoventil... |
ORPHA:258 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Increased circulating lactate dehydrogenase concentration, Respiratory insufficiency,... |
ORPHA:365 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Respiratory failure requiring assisted ventilation, Tachypnea, Respirato... |
ORPHA:555874 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Optic atrophy, Apnea |
OMIM:614969 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated gamma-glutamyltransferase level, Optic atrophy, Elevated circulating hepatic transaminas... |
OMIM:618329 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Apnea, Abnormal circulating enzyme concentration or activity |
ORPHA:395 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea |
ORPHA:529799 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:617527 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure |
ORPHA:75840 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatic failure, Apnea, Neonatal death |
OMIM:608013 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Decreased liver function, Neonatal death, Stillbirth, Respiratory failure |
OMIM:614922 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Apnea, Respiratory insufficiency |
ORPHA:521426 |
| Joubert Syndrome 21 |
|
Optic atrophy, Apnea, Megalopapilla, Dyspnea, Respiratory failure |
OMIM:615636 |
| Idiopathic Pulmonary Hemosiderosis |
|
Dyspnea, Heart murmur, Diffuse alveolar hemorrhage, Respiratory failure |
ORPHA:99931 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Respiratory insufficiency, Tricuspid regurgitation, Congestive heart failure, Mit... |
ORPHA:746 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal autonomic nervous system physiology, Vestibular nystagmus |
ORPHA:282166 |
| Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Dilated cardiomyopathy, Dyspnea, Congestive heart failure, Respiratory ... |
ORPHA:3342 |
| Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
| Boutonneuse Fever |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Respiratory failure |
ORPHA:83313 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death |
OMIM:619334 |
| Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea, Congestive heart failure |
ORPHA:579 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... |
ORPHA:137675 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Abnormal QRS complex, Tachypnea, Cardiac shunt, Abnormality of blood ci... |
ORPHA:860 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Optic atrophy, Orthostatic hypotension, Abnormal autonomic ... |
OMIM:231550 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Apnea, Abnormal autonomic nervous system physiology, Respiratory... |
OMIM:601559 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea |
OMIM:615157 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Respiratory failure |
OMIM:616505 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Tachypnea, Apnea, Elevated circulating hepatic transaminase conce... |
ORPHA:397715 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Elevated circulating alkaline phosphatase concentration, Respiratory insuffi... |
OMIM:135100 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... |
ORPHA:340 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Rett Syndrome |
|
Increased serum leptin, Abnormal autonomic nervous system physiology, Abnormal pattern of respira... |
ORPHA:778 |
| Citrullinemia Type I |
|
Tachypnea, Hepatic failure |
ORPHA:247525 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Increased circulating lactate dehydrogenase concentrati... |
ORPHA:90068 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Aspiration, Bradycardia |
OMIM:610768 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Apnea, Decreased liver function, Respiratory failure requiring assisted ventilation |
OMIM:620423 |
| Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Tachypnea, Pulmonary arterial hypertension |
OMIM:614857 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... |
OMIM:608647 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Palpitations, Decreased circulating cortisol level, Orthostatic hypote... |
ORPHA:91355 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea, Reduced hepatic N-acetylglutamate synthase activity |
OMIM:237310 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... |
ORPHA:90673 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Supraventricular tachycardia, High-output congestive heart failure, Premat... |
ORPHA:423 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Tachypnea, Pulmonary arterial hypertension, Neonatal respiratory distress |
ORPHA:217563 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Encephalitis Lethargica |
|
Hyperventilation, Bradycardia |
ORPHA:83600 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea |
OMIM:618426 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Tachypnea, ... |
OMIM:610978 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea |
OMIM:619580 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Intercostal retractions, Respiratory insufficiency, Apnea, Pulmona... |
ORPHA:95430 |
| Ethylene Glycol Poisoning |
|
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato... |
ORPHA:31826 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Subdural hemorrhage, Respiratory failure, Cerebral hemorrhage |
OMIM:620278 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Autonomic bladder dysfunction, Optic atrophy |
ORPHA:447896 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis |
ORPHA:803 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
| Alexander Disease |
|
Hypotension, Respiratory insufficiency, Facial palsy, Abnormal autonomic nervous system physiolog... |
ORPHA:58 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Respiratory distress, Hypertrophic cardi... |
ORPHA:17 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity,... |
OMIM:277400 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:3015 |
| Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Re... |
ORPHA:209905 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
| Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Leigh Syndrome |
|
Optic atrophy, Hepatic failure, Abnormal pattern of respiration, Congestive heart failure, Hypert... |
ORPHA:506 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
| Severe Congenital Nemaline Myopathy |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:171430 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 concentrat... |
ORPHA:90674 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Low cholesterol esterification rate, Pr... |
OMIM:607625 |
| Glass Syndrome |
|
Apnea |
OMIM:612313 |
| Joubert Syndrome 2 |
|
Episodic tachypnea, Central apnea, Optic disc coloboma |
OMIM:608091 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insuff... |
OMIM:610505 |
| Joubert Syndrome 1 |
|
Episodic tachypnea, Optic disc pallor, Central apnea, Optic disc coloboma |
OMIM:213300 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Tachypnea, Reduced holocarboxylase synthetase activity in cultured fibroblasts |
OMIM:253270 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Respiratory failure, Vasculitis in the skin |
OMIM:620296 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
OMIM:256800 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Apnea, Bradycardia |
ORPHA:97297 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Respiratory failure |
ORPHA:3226 |
| Schwartz-Jampel Syndrome |
|
Respiratory insufficiency, Apnea, Elevated circulating aldolase concentration, Pulmonary arterial... |
ORPHA:800 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Hypertension, Respirato... |
ORPHA:2912 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Tachypnea |
OMIM:300770 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hypertension, Ag... |
OMIM:609136 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased ci... |
ORPHA:226307 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Respiratory insufficiency, Increased pulmonary vascular resistance, Ta... |
ORPHA:60025 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:98905 |
| Rh Deficiency Syndrome |
|
Jaundice, Tachypnea, Tachycardia, Increased circulating lactate dehydrogenase concentration |
ORPHA:71275 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
| Orofaciodigital Syndrome Type 6 |
|
Episodic tachypnea, Apnea |
ORPHA:2754 |
| Genitopatellar Syndrome |
|
Apnea |
ORPHA:85201 |
| Ogden Syndrome |
|
Torsade de pointes, Premature atrial contractions, Apnea, Supraventricular tachycardia, Premature... |
OMIM:300855 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Respiratory failure, Cardiomyopathy |
ORPHA:445038 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea |
ORPHA:466722 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Respiratory failure, Cardiomyopathy |
ORPHA:88618 |
| Scorpion Envenomation |
|
Cardiogenic shock, Increased circulating lactate dehydrogenase concentration, Prominent U wave, C... |
ORPHA:466677 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Hyperventilation, Apnea |
OMIM:617799 |
| Bickerstaff Brainstem Encephalitis |
|
Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous... |
ORPHA:79138 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... |
ORPHA:2299 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Crimean-Congo Hemorrhagic Fever |
|
Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase c... |
ORPHA:99827 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia |
ORPHA:300570 |
| Bilateral Perisylvian Polymicrogyria |
|
Apnea, Aspiration, Facial diplegia |
ORPHA:98889 |
| Unilateral Polymicrogyria |
|
Epistaxis, Apnea, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
| Marshall-Smith Syndrome |
|
Apnea, Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension, Optic ne... |
OMIM:602535 |
| Cholera |
|
Hypovolemic shock, Hypotension, Tachypnea, Hyperventilation, Tachycardia |
ORPHA:173 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Abnormal autonomic nervous system physiology |
ORPHA:478029 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure |
OMIM:610678 |
| Pancreatic And Cerebellar Agenesis |
|
Apnea, Optic nerve hypoplasia |
OMIM:609069 |
| Congenital Myopathy 10B, Mild Variant |
|
Respiratory failure |
OMIM:620249 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
| Double Outlet Right Ventricle |
|
Tachycardia, Tachypnea, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Hepatic failure, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure |
OMIM:259720 |
| Shprintzen-Goldberg Syndrome |
|
Apnea, Mitral regurgitation |
ORPHA:2462 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Respiratory distress, Bradycardia, Dyspnea, Respiratory failure |
ORPHA:79404 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure |
OMIM:617186 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Gaucher Disease, Type Ii |
|
Apnea |
OMIM:230900 |
| Tarp Syndrome |
|
Optic atrophy, Apnea |
ORPHA:2886 |
| Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Scedosporiosis |
|
Respiratory failure, Pericarditis |
ORPHA:449280 |
| Xp21 Deletion Syndrome |
|
Apneic episodes in infancy |
ORPHA:261476 |
| Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Hepatitis, Respiratory distress, Shock, Tachypnea, Myocarditis, Tachycardia, Capilla... |
ORPHA:36234 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology |
ORPHA:247234 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased circulating inhibin B concentration, Decreased circulating T4 concentration, Decreased ... |
ORPHA:98754 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased circulating inhibin B concentration, Decreased circulating T4 concentration, Decreased ... |
ORPHA:98793 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:496641 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased circulating inhibin B concentration, Decreased circulating T4 concentration, Decreased ... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased circulating inhibin B concentration, Decreased circulating T4 concentration, Decreased ... |
ORPHA:177901 |
| Spinal Cord Injury |
|
Abnormal autonomic nervous system physiology |
ORPHA:90058 |
| Steinert Myotonic Dystrophy |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Respiratory insu... |
ORPHA:273 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Facial palsy |
OMIM:300373 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomyopathy |
ORPHA:158687 |
| Tick-Borne Encephalitis |
|
Elevated circulating hepatic transaminase concentration, Abnormal cranial nerve morphology, Abnor... |
ORPHA:297 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Myocardial infarction, Telangiectasia of... |
ORPHA:679 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in... |
OMIM:613658 |
| Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
| Listeriosis |
|
Arteritis, Congestive heart failure, Respiratory distress, Myocarditis, Jaundice, Respiratory fai... |
ORPHA:533 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
