Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormal circulating enzyme concentration or ... |
ORPHA:132 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insu... |
OMIM:620265 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Rhinorrhea |
OMIM:167400 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third deg... |
OMIM:601419 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory failure, Apnea, Bradycardia |
OMIM:616277 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Elevated circulating aspartate aminotransferase concentration, Congestive heart failure, E... |
OMIM:619048 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
OMIM:618236 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy, Apnea |
OMIM:617933 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Abnormal autonomic nervo... |
ORPHA:3299 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration, Cardia... |
ORPHA:168593 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure |
OMIM:300717 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency |
OMIM:616276 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Cardiac arrest |
OMIM:618235 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Hypertrophic cardiomyopathy, Eleva... |
ORPHA:330001 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea |
OMIM:610992 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea |
OMIM:618414 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Apnea, Optic atrophy, Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:618228 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Nemaline Myopathy 8 |
|
Respiratory failure, Facial palsy |
OMIM:615348 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Neonatal death, Cardiorespiratory arrest |
OMIM:620203 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Neonatal respiratory distress, Apnea, Resp... |
ORPHA:168486 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Abnormal pattern of respiration |
OMIM:608800 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Apnea, Bradycardia |
OMIM:614498 |
Congenital Heart Block |
|
First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure, Atriovent... |
ORPHA:60041 |
Congenital Myopathy 11 |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure |
OMIM:616794 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Respiratory failure, Jaundice |
ORPHA:890 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Optic atrophy, Apnea, Central hypoventilation |
OMIM:618233 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
Multiple System Atrophy |
|
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... |
ORPHA:102 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Respiratory insufficiency, Hypertension, Abnormal autonomic nerv... |
ORPHA:97229 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea |
OMIM:617235 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... |
OMIM:611890 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Abnormal circulating enzyme concentration or activity, Apnea, Epi... |
ORPHA:79264 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... |
OMIM:265120 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage |
OMIM:616414 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation |
OMIM:617903 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... |
ORPHA:98933 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Re... |
ORPHA:2590 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Increased circulating procalcitonin concentration, Pneumonia, Nonpro... |
ORPHA:36238 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea, Bradycardia |
OMIM:610015 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, C... |
OMIM:212138 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func... |
OMIM:616299 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Respiratory insufficiency |
OMIM:614654 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Apnea |
OMIM:616896 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Tachycardia, Apnea, Hyperventilation |
OMIM:229700 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, A... |
OMIM:209880 |
Asbestos Intoxication |
|
Reduced vital capacity, Right ventricular failure, Reduced forced vital capacity, Nonproductive c... |
ORPHA:2302 |
Hyperekplexia 3 |
|
Respiratory arrest, Syncope, Apnea |
OMIM:614618 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Apnea, Decreased liver function |
OMIM:614883 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Bradycardia... |
ORPHA:226313 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:618226 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... |
ORPHA:178320 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... |
ORPHA:227510 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Ne... |
OMIM:620167 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Apnea |
OMIM:619527 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... |
ORPHA:542323 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure, Facial diplegia, Facial palsy |
ORPHA:171433 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hypertension, Apneic episodes in infancy |
OMIM:619111 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Optic atrophy, Respiratory insufficiency... |
OMIM:614299 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating en... |
ORPHA:308552 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ... |
ORPHA:369873 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Facial palsy, Respiratory insufficiency |
ORPHA:370968 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Facial palsy |
OMIM:617143 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Elevated circulating alanine aminotransferase c... |
OMIM:619386 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure |
OMIM:261680 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ... |
OMIM:604320 |
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 |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Acute respiratory distress syndrome, Cerebral hemorrhage, Respirat... |
OMIM:617397 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:245400 |
Haddad Syndrome |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Central hypoventilation, Bre... |
ORPHA:99803 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia |
OMIM:618253 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Apnea, Inspiratory stridor |
OMIM:600721 |
Coronary Arterial Fistula |
|
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... |
ORPHA:2041 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Respiratory failure, Optic atrophy, Congenital laryngeal str... |
ORPHA:2254 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Respiratory fail... |
ORPHA:70472 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea |
ORPHA:71277 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Optic atrophy, Bradycardia |
OMIM:614702 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea |
OMIM:611523 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency |
OMIM:614462 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Jaundice, Apnea, Respiratory insufficiency |
OMIM:608093 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough |
OMIM:614575 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... |
ORPHA:352447 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Facial palsy, Restrictive ventilatory defect, Respiratory fail... |
ORPHA:98913 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Leigh Syndrome |
|
Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Elevated hepatic transaminase, Tachycardia, Abnormal circulating enzyme con... |
ORPHA:348 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati... |
ORPHA:35069 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Dyspnea, Nonproductive cough, Jaw claudication, Elevat... |
ORPHA:85443 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Sudden episodic apnea, Ventricular tachycardia, Respiratory insuff... |
ORPHA:159 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Apnea, Respiratory insufficiency |
OMIM:618886 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:609 |
Propionic Acidemia |
|
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Propionyl-CoA carboxylase deficiency |
OMIM:606054 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Bradycardia, P... |
OMIM:601005 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory failure, Resp... |
ORPHA:449285 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:615330 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Neonatal respiratory distress, Reduced hepatic D-glycerate kinase activit... |
OMIM:220120 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertension, Respi... |
ORPHA:79126 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased circulating cortisol level, Apnea, Elevated circulating growth hormone concentration, H... |
ORPHA:79644 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Decreased liver function |
ORPHA:79327 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra... |
OMIM:614653 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Bradycardia, Hypertrophic cardiomyopathy, Hyperventila... |
OMIM:618775 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Rett Syndrome |
|
Abnormal T-wave, Apnea, Prolonged QTc interval, Intermittent hyperventilation |
OMIM:312750 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... |
OMIM:618222 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:95717 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea |
OMIM:619606 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Restrictive ventilatory defect, Res... |
ORPHA:99931 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Respiratory failure |
OMIM:619334 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... |
ORPHA:803 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... |
OMIM:618186 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arterial hypertension, ... |
OMIM:605711 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cln3 Disease |
|
T-wave inversion, Optic atrophy, Bradycardia, Increased circulating androgen concentration |
ORPHA:228346 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Apnea, Low alkaline phosphatase |
OMIM:241500 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy |
OMIM:314580 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Apnea, Decreased circulating biotinidase concentration |
OMIM:253260 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respirato... |
ORPHA:90051 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respiratory arrest |
OMIM:617248 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Necrotizing Enterocolitis |
|
Shock, Apnea, Bradycardia, Hypotension |
ORPHA:391673 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Respiratory failure, Hyperinsulinemia |
ORPHA:363400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Facial palsy |
OMIM:606612 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Apnea, Elevated circulating asparta... |
OMIM:608836 |
Myotonia Fluctuans |
|
Stridor, Apnea |
ORPHA:99734 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Tachypnea, Apnea |
ORPHA:2318 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... |
ORPHA:98755 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... |
ORPHA:441 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Rett Syndrome |
|
Abnormal autonomic nervous system physiology, Abnormal pattern of respiration, Increased serum le... |
ORPHA:778 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Eleva... |
OMIM:610978 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure, Arrhythmia |
ORPHA:1194 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Nephronophthisis 2 |
|
Hypertension, Respiratory failure, Pulmonary insufficiency, Respiratory insufficiency |
OMIM:602088 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Abnormal respiratory system physiolog... |
ORPHA:449280 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... |
OMIM:618291 |
Tenorio Syndrome |
|
Apnea, Raynaud phenomenon, Recurrent pneumonia, Syncope, Hypoinsulinemia |
OMIM:616260 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Optic atrophy, Apnea |
OMIM:617301 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:79473 |
48,Xxyy Syndrome |
|
Asthma, Apnea |
ORPHA:10 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea |
OMIM:615838 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... |
OMIM:220110 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Elevated hepatic transaminase, Pneumoni... |
ORPHA:26793 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Restr... |
ORPHA:26791 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
Fibrodysplasia Ossificans Progressiva |
|
Elevated circulating alkaline phosphatase concentration, Respiratory failure, Respiratory insuffi... |
OMIM:135100 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Recurrent pneumonia |
OMIM:602079 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Optic atrophy, Respiratory insufficiency, Respiratory failure, Ele... |
OMIM:618329 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Decreased circulating biotinidase c... |
ORPHA:79241 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Episodic tachypnea, Decreased liver function |
OMIM:615160 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy |
OMIM:607598 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Tricuspid regurgitation, Bradycardia, Respiratory insufficiency |
OMIM:620351 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspnea, Episodic r... |
ORPHA:255210 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Elevated hepatic transaminase, Crackles, Nonproductive cough, Myocar... |
ORPHA:319213 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy, Abn... |
ORPHA:2131 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Conges... |
OMIM:615512 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Elevated circulatin... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver function, Neonatal death |
OMIM:614922 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme... |
ORPHA:206436 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Res... |
ORPHA:746 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Respiratory failure, Vasculitis |
ORPHA:83313 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Dilated... |
OMIM:600649 |
Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Optic atrophy, Respiratory insufficiency, Cardiomyopa... |
ORPHA:3463 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Apnea, Portal hypertension, Optic disc coloboma, Chronic hepatic f... |
ORPHA:1454 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Atrial fibrillation, Recurrent... |
OMIM:613327 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Jaundice, Optic nerve dysplasia, Apnea |
OMIM:214110 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... |
OMIM:616482 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Optic atrophy |
OMIM:616505 |
Familial Thyroid Dyshormonogenesis |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:95716 |
Serotonin Syndrome |
|
Tachycardia, Tachypnea, Hypertension, Hypotension, Abnormality of the autonomic nervous system, H... |
ORPHA:43116 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy, Optic atrophy |
ORPHA:3078 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529799 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Apnea, Cardiac arrest, Jaundice, Dilated cardiomyopathy, Tachypnea... |
ORPHA:20 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Optic atrophy, Apnea |
ORPHA:395 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial palsy, Pneumonia, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... |
ORPHA:98905 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure |
OMIM:610678 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia... |
ORPHA:555874 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Encephalitis Lethargica |
|
Bradycardia, Hyperventilation |
ORPHA:83600 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy |
ORPHA:79330 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Tachypnea, Reduced left ventricular ejection fraction, Respiratory arrest, ... |
OMIM:201475 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Low cholesterol esterification rate, Jaundice, Respiratory insuffi... |
OMIM:607625 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Facial palsy, Respiratory insufficiency, Pulmonary arterial hypertension, Respir... |
ORPHA:258 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular ... |
ORPHA:423 |
Pontocerebellar Hypoplasia, Type 7 |
|
Optic atrophy, Apnea |
OMIM:614969 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171430 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outflow tract o... |
ORPHA:860 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Congestive heart failure, Optic atrophy, Cough, Hypertrophic cardiomyopathy |
ORPHA:579 |
Citrullinemia Type I |
|
Tachypnea, Hepatic failure |
ORPHA:247525 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatic failure, Apnea, Neonatal death |
OMIM:608013 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, Optic disc pallor, Bradycardia, Abnormal circulating enzyme ... |
ORPHA:565624 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar... |
ORPHA:90068 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Respiratory failure |
ORPHA:3226 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea |
OMIM:615157 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Abnormal circulating enzyme concentration or activity, Transient... |
ORPHA:365 |
Gaucher Disease, Type Ii |
|
Stridor, Apnea, Recurrent aspiration pneumonia, Cough |
OMIM:230900 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Apnea, Optic neuropathy, Concentric hypertrophic cardiomyopathy, Respiratory i... |
OMIM:252010 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Apnea, Tachypnea, Abnormal optic disc morphology, Recurrent aspira... |
ORPHA:397715 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Apnea, Respiratory insufficiency |
OMIM:617527 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Elevated hepatic transaminase, Pneumonia, Epistaxis, He... |
ORPHA:340 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Apnea, Respiratory insufficiency |
ORPHA:521426 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Tachypnea, Decreased methionine synthase activity |
OMIM:614857 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... |
ORPHA:221098 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Respiratory insufficiency, Hypertension, Abnormal autonomic n... |
ORPHA:58 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn... |
ORPHA:79138 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Respiratory failure |
ORPHA:88618 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Hyp... |
ORPHA:2912 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... |
ORPHA:3342 |
Rh Deficiency Syndrome |
|
Tachycardia, Jaundice, Tachypnea, Hypoxemia, Increased circulating lactate dehydrogenase concentr... |
ORPHA:71275 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea |
OMIM:619580 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Apnea, Abnormal autonomic nervous system physiology, Respiratory... |
OMIM:601559 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic neuropathy, Dyspnea, Dilated cardiomyopathy, Optic atrophy, Concentric hypertrophic cardiom... |
OMIM:610505 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy |
ORPHA:158687 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Elevated circul... |
ORPHA:209905 |
Joubert Syndrome 2 |
|
Central apnea, Optic disc coloboma, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Mitral regurgitation |
OMIM:617809 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Episodic tachypnea, Optic disc coloboma, Neonatal breathing dys... |
OMIM:213300 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone... |
OMIM:218700 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Abnormal autonomic ... |
OMIM:231550 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure |
OMIM:617186 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Tachycardia, Decreased serum insulin-like growth factor 1, Elevate... |
OMIM:614921 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Elevated hepatic tra... |
ORPHA:17 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Jaundice, Exertional dyspnea |
ORPHA:90033 |
Glass Syndrome |
|
Apnea |
OMIM:612313 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Optic atrophy, R... |
ORPHA:506 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Hypertension |
OMIM:613320 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea |
ORPHA:466722 |
Genitopatellar Syndrome |
|
Apnea |
ORPHA:85201 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth, Hepatic failure |
OMIM:259720 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Epistaxis, Jaundice, Hypotension, Cough, Increased ci... |
ORPHA:91547 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:91355 |
Pancreatic And Cerebellar Agenesis |
|
Apnea, Optic nerve hypoplasia |
OMIM:609069 |
Unilateral Polymicrogyria |
|
Giant somatosensory evoked potentials, Apnea, Epistaxis |
ORPHA:268943 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p... |
ORPHA:99027 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure |
OMIM:619847 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Opt... |
ORPHA:496641 |
Aortic Arch Interruption |
|
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Apnea, Bradycardia |
ORPHA:97297 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elev... |
ORPHA:466677 |
Marshall-Smith Syndrome |
|
Apnea, Optic nerve hypoplasia, Premature ventricular contraction, Stridor, Hypertension, Aspirati... |
OMIM:602535 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Cholera |
|
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent... |
ORPHA:420741 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Double Outlet Right Ventricle |
|
Tachycardia, Tachypnea, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:90673 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Breathing dysregulation |
ORPHA:79155 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... |
ORPHA:79404 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction |
ORPHA:447896 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy |
ORPHA:261476 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Facial diplegia, Apnea |
ORPHA:98889 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Exertional dyspnea |
ORPHA:90036 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation |
OMIM:617799 |
Schwartz-Jampel Syndrome |
|
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Arrhythmia, Elevated circulati... |
ORPHA:800 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Hepatitis... |
ORPHA:36234 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology |
OMIM:109150 |
Ogden Syndrome |
|
Apnea, Jaundice, Ventricular tachycardia, Premature ventricular contraction, Pulmonary arterial h... |
OMIM:300855 |
Shprintzen-Goldberg Syndrome |
|
Mitral regurgitation, Apnea |
ORPHA:2462 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Prolonged neonatal jaundice, Decreased ... |
ORPHA:90674 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Marburg Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Nonproductive cough, Jaundice, H... |
ORPHA:99826 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Tachypnea, Elevated circulating parathyroid hormone level |
OMIM:239200 |
Tarp Syndrome |
|
Optic atrophy, Apnea |
ORPHA:2886 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
OMIM:256800 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Reduced circulating prolacti... |
ORPHA:226307 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill... |
ORPHA:273 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Decreased circulating T4 concentration, Decreased inhibin B level, Decreased circu... |
ORPHA:98754 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Optic nerve compression, Apnea, Chronic rhinitis |
ORPHA:667 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Apnea, Facial palsy |
OMIM:300373 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Decreased circulating T4 concentration, Decreased inhibin B level, Decreased circu... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Decreased circulating T4 concentration, Decreased inhibin B level, Decreased circu... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Decreased circulating T4 concentration, Decreased inhibin B level, Decreased circu... |
ORPHA:177901 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Tachypnea, Respiratory insufficiency, Respira... |
OMIM:613658 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hypoventilation, Central hypoventilation, Asthma, Cardiorespirator... |
ORPHA:293987 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Crackles, Hepatic failure, Tachypnea, ST segment depression, Hypotension, ... |
ORPHA:466650 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Tachypnea, Hypotension, Cough |
ORPHA:134 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Pleural effusion, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating T4 concentration |
OMIM:603373 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormality of the autonomi... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormality of the autonomi... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormality of the autonomi... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormality of the autonomi... |
ORPHA:93924 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Tachypnea, Telangiectasia |
OMIM:615934 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea |
ORPHA:1052 |
Listeriosis |
|
Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Myocarditis, Jaundice, R... |
ORPHA:533 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Nonproductive... |
ORPHA:980 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology |
ORPHA:247234 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... |
OMIM:114290 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea, Hypertension |
OMIM:613834 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal... |
ORPHA:297 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Jaun... |
ORPHA:731 |
Slc39A8-Cdg |
|
Sudden episodic apnea |
ORPHA:468699 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis |
ORPHA:125 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure |
OMIM:618252 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Congestive heart failure, Respiratory failure |
ORPHA:14 |
Costello Syndrome |
|
Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory failure, Vestib... |
OMIM:218040 |
Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu... |
ORPHA:2556 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Tachypnea |
OMIM:615751 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Yellow Fever |
|
Shock, Elevated circulating aspartate aminotransferase concentration, Supraventricular arrhythmia... |
ORPHA:99829 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Optic disc pallor, Apnea, Breathing dysregulation, Pulmonic stenosis, Aspiration... |
ORPHA:438213 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... |
ORPHA:99125 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia, Apnea |
ORPHA:285 |
Double Outlet Left Ventricle |
|
Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Neonatal respiratory distress, Apnea, Portal hypertension, Asthma, Is... |
OMIM:619503 |
Leprosy |
|
Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous system physiology |
ORPHA:548 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration, Respiratory failure |
OMIM:300868 |
Niemann-Pick Disease Type C |
|
Low cholesterol esterification rate, Jaundice, Respiratory insufficiency, Respiratory failure, As... |
ORPHA:646 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage |
ORPHA:805 |
Arima Syndrome |
|
Optic atrophy, Dyspnea, Tachypnea, Hypertension |
OMIM:243910 |
Myhre Syndrome |
|
Hypertension, Respiratory failure, Aortic valve stenosis, Respiratory insufficiency |
OMIM:139210 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Recurrent pneumonia |
ORPHA:647 |
Nmda Receptor Encephalitis |
|
Abnormal sudomotor regulation, Orthostatic hypotension, Abnormal autonomic nervous system physiol... |
ORPHA:217253 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pulmonary hemorrhage, Cough,... |
OMIM:233450 |
Choreoacanthocytosis |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte enzyme level,... |
ORPHA:2388 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentra... |
ORPHA:2636 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Respiratory failure, Hypertrophic cardiomyopathy, Restrictive ve... |
ORPHA:96334 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Optic nerve hypoplasia, Optic atrophy, Respiratory failure, Ischemic s... |
ORPHA:500150 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertension, Mitral regurgitation, Tachypnea, Hypertrophic cardiomyopathy |
OMIM:220111 |
Pallister-Killian Syndrome |
|
Apneic episodes in infancy, Aortic valve stenosis, Stillbirth, Hypertrophic cardiomyopathy, Hyper... |
OMIM:601803 |