Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cytoplasmic polyadenylation element binding protein 2
Synonyms:
A630055H10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cpeb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cpeb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure, Abnormal enzyme/coenzyme activity, Respiratory f... ORPHA:132
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:618222
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency OMIM:617232
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Apnea OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Paroxysmal Extreme Pain Disorder
Rhinorrhea, Tachycardia, Bradycardia OMIM:167400
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure, N... ORPHA:70587
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Respira... OMIM:601419
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... ORPHA:90117
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Apnea, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Facial palsy, Respiratory insufficiency OMIM:617239
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Restrictive v... OMIM:614399
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology OMIM:618960
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Stridor, Abnormal pattern of respiration, Apnea, Bradycardia, Cardiorespiratory arrest, Bronchospasm OMIM:608800
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... ORPHA:45452
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency OMIM:616276
Myasthenic Syndrome, Congenital, 8
Facial palsy, Respiratory insufficiency OMIM:615120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Bradycardia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:619048
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Bradycardia OMIM:617248
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... OMIM:610476
Ravine Syndrome
Abnormal auditory evoked potentials, Apnea ORPHA:99852
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Respiratory insufficiency ORPHA:3188
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Tetanus
Hypertension, Tachypnea, Tachycardia, Bradycardia, Respiratory distress, Autonomic bladder dysfun... ORPHA:3299
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea, Episodic hypertension OMIM:619483
Lethal Congenital Contracture Syndrome 4
Respiratory insufficiency OMIM:614915
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Optic atrophy, Apnea OMIM:618236
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Cardiac arrest, Sleep apnea, Arrhythmia, Abnormal autonomic nerv... ORPHA:168593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... OMIM:616299
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Nemaline Myopathy 8
Respiratory failure, Facial palsy OMIM:615348
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency OMIM:614654
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Respiratory insufficiency ORPHA:640
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Respiratory insufficiency, Fa... ORPHA:97229
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Optic atrophy, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Multiple System Atrophy
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... ORPHA:102
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Increased circulating lactate dehydrog... ORPHA:168486
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency OMIM:617892
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anter... OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Optic atrophy, Central hypoventilation, Apnea OMIM:618233
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Respiratory failure, Jaundice ORPHA:890
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia, Respiratory insufficiency OMIM:300696
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:614462
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Multiple System Atrophy, Parkinsonian Type
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... ORPHA:98933
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... ORPHA:60032
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency, Degeneration of anterior horn cells OMIM:600333
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Optic atrophy, Dilated cardiomyopathy, Respiratory insufficiency, Re... OMIM:614299
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Pulmonary hemorrhage, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:616414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Abnormal lower ... ORPHA:2590
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Increased circulating procalcitonin concentration, Tachypnea, Pneumo... ORPHA:36238
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Right ventricular failure, Exertional dyspne... ORPHA:2302
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea, Bradycardia OMIM:610015
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation, Abnormal autonomic nervous system physiology OMIM:617903
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Increased cir... ORPHA:723
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... OMIM:310200
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Respiratory insuffi... OMIM:605253
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Respiratory insufficiency OMIM:616323
Joubert Syndrome 33
Apnea OMIM:617767
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia ORPHA:871
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Diffuse alveol... ORPHA:178320
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Apnea, Respiratory insufficiency OMIM:618226
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Respiratory insufficiency, Bradycardia, Decreased liver function, Elevated h... OMIM:617397
Multiple System Atrophy, Cerebellar Type
Stridor, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud pheno... ORPHA:227510
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Pontocerebellar Hypoplasia, Type 4
Respiratory failure OMIM:225753
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency OMIM:300717
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Central sleep apnea, Decreased liver functi... ORPHA:70472
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Respiratory insufficiency OMIM:255100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Tachypnea, Neonatal death, Apnea, Pulmonary arterial hypertension,... OMIM:265120
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia, Abnormal auton... ORPHA:369873
Haddad Syndrome
Aganglionic megacolon, Breathing dysregulation, Central sleep apnea, Central hypoventilation, Abn... ORPHA:99803
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Aganglionic megacolon, Hypercapnia, Apnea, Decreased heart rate variability, Central h... OMIM:209880
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia, Respiratory insufficiency OMIM:612999
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Decreased circulating T4 level, Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Tachycardia, Respiratory insufficiency, Bradycardia OMIM:614653
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Respiratory failure, A... ORPHA:542323
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Apnea, Tachycardia, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Asp... ORPHA:79264
Hyperekplexia 4
Respiratory failure OMIM:618011
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... ORPHA:99105
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Facial palsy, Respiratory insufficiency ORPHA:370968
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cough, Abnormal autonomic nervous system physiology OMIM:614575
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dy... ORPHA:352447
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Optic atrophy, Apnea ORPHA:255241
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171433
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration ORPHA:724
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Vasculitis, Respiratory failure, Dyspnea, ... ORPHA:70578
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle w... ORPHA:308552
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Inspiratory stridor, Tachypnea, Decreased nerve conduction velocity, Ventilator dependence with i... OMIM:604320
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Hepatitis, Cough, Respiratory fa... ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Neonatal death, Elevated circulating as... OMIM:245400
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Facial palsy, Decreased liver function, Respiratory failure, Respi... OMIM:310400
Pontocerebellar Hypoplasia, Type 6
Apnea OMIM:611523
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Tachycardia, Hyperventilation OMIM:229700
Fatal Familial Insomnia
Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Respiratory insufficiency OMIM:616325
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Palpitations, Elevated jugula... ORPHA:2041
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618243
Parkinsonism-Dystonia 2, Infantile-Onset
Stridor, Abnormal autonomic nervous system physiology OMIM:618049
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Optic atrophy, Respiratory insufficiency OMIM:618228
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Facia... ORPHA:70
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... OMIM:610921
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Apnea, Elevated hepatic transaminase OMIM:614883
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Leigh Syndrome
Respiratory failure, Optic atrophy, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Facial palsy, Respiratory insufficiency OMIM:616324
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea OMIM:616896
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... OMIM:606071
Multiple Carboxylase Deficiency
Optic atrophy, Decreased biotinidase level, Tachypnea, Respiratory distress, Abnormal enzyme/coen... ORPHA:148
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... ORPHA:330021
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough... ORPHA:79126
Hyperekplexia 3
Apnea OMIM:614618
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:613954
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Congestive heart failure, Severely redu... ORPHA:444013
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Facial palsy, Exertional dyspnea, Orthopnea, Reduced vital capaci... ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Dyspnea, Global systolic dysfunction, Respiratory insufficiency OMIM:606842
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Jaw claudication, Gastroin... ORPHA:85443
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Fabry Disease
Hypertension, Angina pectoris, Myocardial infarction, Transient ischemic attack, Congestive heart... OMIM:301500
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Apnea, Cardiomyopathy, Inspiratory stridor OMIM:600721
Infantile Neuroaxonal Dystrophy
Optic atrophy, Apneic episodes in infancy, Increased circulating lactate dehydrogenase concentrat... ORPHA:35069
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Dyspnea, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology ORPHA:97355
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral ischemia, Cardio... ORPHA:449285
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Folinic Acid-Responsive Seizures
Optic atrophy, Apnea, Respiratory distress ORPHA:79097
Coach Syndrome 2
Elevated hepatic transaminase, Apneic episodes in infancy, Hypertension OMIM:619111
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Facial palsy OMIM:617143
Joubert Syndrome 7
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:611560
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death OMIM:619334
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Respiratory insufficiency, Elevated circulating aspartate aminotransferas... OMIM:609015
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:276950
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pneumonia OMIM:601005
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Respiratory insufficiency OMIM:615959
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Apnea OMIM:619527
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypertension, Arrhythmia, Respiratory insufficiency OMIM:617021
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Diffuse alveolar hemorrhage... ORPHA:99931
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia ORPHA:95717
Alg1-Cdg
Decreased liver function, Respiratory failure, Cardiomyopathy ORPHA:79327
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Apnea OMIM:614969
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Resp... ORPHA:803
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Apnea, Respiratory insufficiency, Jaundice OMIM:608093
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Bradycardia, Hyperventilation OMIM:618775
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Cystic Hamartoma Of Lung And Kidney
Hypertension, Respiratory insufficiency ORPHA:2111
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Hepatic failure OMIM:261680
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Abnormal enzym... ORPHA:348
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Apnea, Elevated circulating ... ORPHA:79644
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hypertension, Hyperinsulinemia ORPHA:363400
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac... ORPHA:70474
Necrotizing Enterocolitis
Shock, Apnea, Bradycardia, Hypotension ORPHA:391673
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress OMIM:616867
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1194
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Aganglionic megacolon, Tachycardia, Abnormal autonomic nervous system physiology OMIM:613870
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Sepsis In Premature Infants
Abnormal respiratory system physiology, Tachycardia, Bradycardia, Decreased liver function, Abnor... ORPHA:90051
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Tricuspi... OMIM:616501
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Spinocerebellar Ataxia Type 1
Respiratory failure, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked pote... ORPHA:98755
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Scedosporiosis
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... ORPHA:449280
Pure Autonomic Failure
Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope, Abnormal autono... ORPHA:441
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Apnea, Respiratory insufficiency OMIM:618886
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency, Ventricular tachycardia, Cardiomyopathy, Hepati... ORPHA:159
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Chronic pulmona... ORPHA:439232
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Respiratory insufficiency, Facial palsy, Dyspnea, Arrhythmia OMIM:615084
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage OMIM:178550
Rett Syndrome
Increased serum leptin, Abnormal pattern of respiration, Abnormal autonomic nervous system physio... ORPHA:778
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Dyspnea, Arrhythmia ORPHA:464453
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Nephronophthisis 2
Respiratory failure, Hypertension, Respiratory insufficiency, Pulmonary insufficiency OMIM:602088
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy OMIM:607598
Trimethylaminuria
Hypertension, Recurrent pneumonia, Tachycardia OMIM:602079
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Bone Dysplasia, Lethal, Holmgren Type
Respiratory insufficiency OMIM:211120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... OMIM:610978
Lujo Hemorrhagic Fever
Myocarditis, Shock, Crackles, Rhinitis, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycar... ORPHA:319213
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Cardiomyopathy, Decreased liver function, Respiratory failure, Inc... ORPHA:26791
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Congest... ORPHA:746
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Increased circulating lactate dehydr... ORPHA:94093
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Rett Syndrome
Apnea, Abnormal T-wave, Intermittent hyperventilation, Prolonged QTc interval OMIM:312750
Porphyria Variegata
Hypertension, Respiratory paralysis, Tachycardia, Abnormal enzyme/coenzyme activity, Elevated hep... ORPHA:79473
Joubert Syndrome 3
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Tachypnea, Atrioventricular block, Vent... ORPHA:26793
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Tachypnea, Apnea, Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Optic atrophy, Respiratory insufficiency, Elevated hepatic transamin... OMIM:618329
Boutonneuse Fever
Elevated hepatic transaminase, Respiratory failure, Vasculitis ORPHA:83313
Joubert Syndrome
Aganglionic megacolon, Apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:475
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea OMIM:615160
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Stillbirth, Hepatic failure, Respiratory failure OMIM:259720
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Apnea, Res... OMIM:608836
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Coproporphyria, Hereditary
Hypertension, Respiratory paralysis, Tachycardia, Jaundice OMIM:121300
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:3095
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Respiratory distress, Abnormal heart rate var... ORPHA:206436
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Wolfram Syndrome
Optic atrophy, Central apnea, Respiratory insufficiency, Cardiomyopathy, Gastrointestinal hemorrh... ORPHA:3463
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Optic atrophy, Dyspnea, Respiratory distress ORPHA:2707
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Respiratory arrest, Ventricular tachycardia, Increased circulating lactat... OMIM:600649
Ondine Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system, Respiratory insufficiency ORPHA:661
Serotonin Syndrome
Hypertension, Tachypnea, Abnormality of the autonomic nervous system, Tachycardia, Hepatic failur... ORPHA:43116
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Joubert Syndrome With Oculorenal Defect
Tachypnea, Aganglionic megacolon, Apnea ORPHA:2318
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Abnormal respiratory system physiology, Respiratory insuffici... ORPHA:133
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Facial palsy, Apnea OMIM:314580
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Apnea, Cardiomyopathy, Respiratory distress, Asp... ORPHA:2131
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Biotinidase Deficiency
Tachypnea, Optic atrophy, Decreased biotinidase level, Apnea OMIM:253260
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Optic atrophy OMIM:616505
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Systolic heart murmur, Tachypnea, Tricuspid regurgitation, Respiratory failure, Respir... ORPHA:555874
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Apnea, Abnormal pattern of respiration ORPHA:220497
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Reduced ejection fraction, Pulmonary arte... ORPHA:258
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Absent brainstem auditory responses ORPHA:3240
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Encephalitis Lethargica
Bradycardia, Hyperventilation ORPHA:83600
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia ORPHA:95716
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Exertional dyspnea, Right bundle branch bl... ORPHA:263297
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal autonomic nervous sys... OMIM:601559
Tenorio Syndrome
Syncope, Pneumonia, Apnea, Raynaud phenomenon, Hypoinsulinemia OMIM:616260
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171430
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Pulmonary arterial hypertension, Decreased methionine synthase activity OMIM:614857
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... ORPHA:365
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Episodic respiratory distress... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure OMIM:610678
Variant Abeta2M Amyloidosis
Reduced ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Optic atrophy, Apnea OMIM:617301
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... ORPHA:60025
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea, Stillbirth OMIM:241500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea OMIM:616482
Biotinidase Deficiency
Optic atrophy, Optic neuropathy, Decreased biotinidase level, Apnea, Respiratory distress, Hyperv... ORPHA:79241
48,Xxyy Syndrome
Apnea, Asthma ORPHA:10
Cocaine Intoxication
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... ORPHA:90068
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Tachypnea, Hypercapnia, Ventricular tachycardia, Supraventricu... ORPHA:423
Citrullinemia Type I
Tachypnea, Hepatic failure ORPHA:247525
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... OMIM:614874
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Sudden car... OMIM:201475
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Tracheal Agenesis
Respiratory insufficiency ORPHA:3346
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Intracranial hemorrhage ORPHA:3226
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Congenital Myasthenic Syndrome
Respiratory arrest, Apneic episodes precipitated by illness, fatigue, stress, Stridor, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Apneic episodes precipitated by illness, fatigue, stress, Stridor, Obstructiv... ORPHA:98914
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Low cholesterol esterification rate, Respirator... OMIM:607625
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, S... ORPHA:137675
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... OMIM:616037
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachypnea, Tachycardia, Conges... ORPHA:860
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Bradycardia, Decreased nerve conduction velocity, Abnormal enzyme/coenzyme act... ORPHA:565624
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Elevated hepatic transamina... OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Optic atrophy, Optic neuropathy, Concentric hypertrophic cardiomyopathy, ... OMIM:610505
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Dyspnea, Respiratory insufficiency OMIM:614370
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Apnea, Abnormal pattern of respiration ORPHA:220493
Alexander Disease
Hypertension, Respiratory insufficiency, Facial palsy, Sleep apnea, Sudden cardiac death, Hypoten... ORPHA:58
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Optic nerve dysplasia, Jaundice OMIM:214110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea OMIM:608809
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Respiratory failure, Pneumothorax, Cardiomyopathy ORPHA:445038
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure OMIM:614862
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Pneumonia, Palpitations, Subconjunctival hemorrhage... ORPHA:340
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Exertional dyspnea, Tachycardia ORPHA:90037
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... OMIM:105210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Glossopharyngeal Neuralgia
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Jaw ... ORPHA:221098
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure OMIM:617186
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology ORPHA:83601
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Joubert Syndrome With Hepatic Defect
Abnormal pattern of respiration, Apnea, Optic disc coloboma, Elevated hepatic transaminase, Porta... ORPHA:1454
Pitt-Hopkins Syndrome
Hyperventilation, Intermittent hyperventilation, Abnormal autonomic nervous system physiology OMIM:610954
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Hypercap... ORPHA:79138
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Abnormal auditory evoked potentials ORPHA:529799
Malignant Atrophic Papulosis
Ischemic stroke, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal hemorrhage, ... ORPHA:679
Poliomyelitis
Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity, Respiratory failure, R... ORPHA:2912
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Facial diplegia, Facial palsy, Respiratory fai... ORPHA:98905
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Apneic episodes in infancy ORPHA:3078
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Respiratory failure, Cardiomyopathy ORPHA:88618
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Apnea OMIM:609069
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Rh Deficiency Syndrome
Hypoxemia, Tachypnea, Tachycardia, Increased circulating lactate dehydrogenase concentration, Jau... ORPHA:71275
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Telangiectasia of... ORPHA:3342
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Tachypnea, Apnea, Cardiac arrest, Elevated hepatic transaminase, Hypotens... ORPHA:20
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Apnea, Abnormal enzyme/coenzyme activity ORPHA:395
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Pulmonary arterial hypertension OMIM:613320
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... OMIM:169500
Pyruvate Dehydrogenase Deficiency
Tachypnea, Dyspnea ORPHA:765
Lethal Acantholytic Erosive Disorder
Respiratory failure, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Neonatal respiratory distress, Tachypnea, Optic nerve hypoplasia, Asthma, Abnormal... ORPHA:79345
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Abnormal autonomic nervous system physiology ORPHA:282166
Mogs-Cdg
Optic atrophy, Apnea, Absent brainstem auditory responses, Respiratory distress, Hypoventilation ORPHA:79330
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Respiratory insufficiency, Cerebral ischemia, Congestive heart failure, Righ... ORPHA:1880
Bohring-Opitz Syndrome
Optic atrophy, Apnea, Bradycardia, Obstructive sleep apnea ORPHA:97297
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Secondary growth hormone deficiency, Bradycardia, Decrease... ORPHA:91355
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Exertional dyspnea, Tachycardia, Jaundice ORPHA:90033
Gaucher Disease, Perinatal Lethal
Respiratory distress, Neonatal death, Apnea, Hepatic failure OMIM:608013
Mucopolysaccharidosis Type 1
Sinusitis, Optic atrophy, Hypertrophic cardiomyopathy, Apnea, Cough, Congestive heart failure ORPHA:579
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Sinus bradycardia, Snoring, Mitral regurgitation OMIM:261990
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Decreased circulating cortisol level, Abnormal autonomic ... OMIM:231550
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Decreased serum insulin-like growth factor 1, Elevated hepatic transamina... OMIM:614921
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest, Hypotension OMIM:608643
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Hec Syndrome
Cardiomyopathy, Arrhythmia, Respiratory insufficiency ORPHA:2119
Leigh Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Decreased biotinidase level, Abnormal pattern of resp... ORPHA:506
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea OMIM:602613
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:209905
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology OMIM:243000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Optic neuropathy, Optic disc... OMIM:252010
Double Outlet Right Ventricle
Tachypnea, Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Relapsing Fever
Epistaxis, Cough, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elevate... ORPHA:91547
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Abnormality of the optic disc, Apnea, Elevated hepatic... ORPHA:397715
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Hydroxykynureninuria
Breathing dysregulation, Tachycardia, Hypotension ORPHA:79155
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Central hypoventilation, Hypoventilation, Cardiorespiratory arrest, Asth... ORPHA:293987
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Mixed-Type Autoimmune Hemolytic Anemia
Exertional dyspnea, Tachycardia ORPHA:90036
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Optic atrophy, Respiratory failure requiring assisted ventilation, Recurrent... ORPHA:496641
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Riddle Syndrome
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Respiratory failure, R... ORPHA:420741
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Bradycardia, Respiratory distress, Resp... ORPHA:79404
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Apnea, Respiratory insufficiency OMIM:617527
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Tricuspid regurgitat... ORPHA:2299
Cholera
Hypovolemic shock, Tachypnea, Tachycardia, Hyperventilation, Aspiration pneumonia, Hypotension ORPHA:173
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Apnea, Respiratory insufficiency ORPHA:521426
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Jaundice, Hypovolemia,... ORPHA:99826
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:610773
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress OMIM:266910
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Prolonged QRS complex, Respiratory insufficiency, Obstructive sleep apnea... ORPHA:273
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Optic disc coloboma, Episodic tachypnea OMIM:608091
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheobronchomalacia OMIM:114290
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Decreased circulating T4 level, Bradycardia ORPHA:90673
Thymoma, Familial
Respiratory insufficiency OMIM:274230
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Respiratory insufficiency OMIM:618042
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Shock, Pneumonia, Tachypnea, Hepatitis, Tachycardia, Respiratory distress... ORPHA:36234
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Joubert Syndrome 21
Dyspnea, Apnea OMIM:615636
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Machado-Joseph Disease
Abnormal autonomic nervous system physiology OMIM:109150
Marshall-Smith Syndrome
Hypertension, Recurrent aspiration pneumonia, Obstructive sleep apnea, Apnea, Pulmonary arterial ... OMIM:602535
Nocardiosis
Productive cough, Pericarditis, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive coug... ORPHA:31204
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Hyperparathyroidism, Neonatal Severe
Tachypnea, Dyspnea, Elevated circulating parathyroid hormone level OMIM:239200
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction