Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... |
ORPHA:90117 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Hypoplasia of the pons, Death in infancy, Hypoplasia of the brainstem |
OMIM:225753 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:253300 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Abnormal mitochondrial morphology, Death in infancy |
OMIM:618528 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... |
OMIM:611890 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Apnea, Abnorma... |
ORPHA:99852 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Nemaline Myopathy 8 |
|
Facial palsy, Respiratory failure, Death in infancy |
OMIM:615348 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy, Atrophy/Degeneration affecting the brainstem |
OMIM:616277 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Abnormality of the mitochondrion, Cyanosis |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... |
OMIM:614399 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Optic atrophy, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Abnormal mitochon... |
ORPHA:275872 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... |
ORPHA:2302 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Respiratory failure |
OMIM:604801 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... |
OMIM:617184 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... |
ORPHA:2590 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... |
ORPHA:91359 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Abnormal pons morphology, Respiratory failure, Facial palsy |
ORPHA:370968 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... |
OMIM:610921 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Respiratory insufficiency, Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... |
OMIM:610913 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy |
OMIM:607641 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata morphology, In... |
ORPHA:1136 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
OMIM:610910 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
Leigh Syndrome |
|
Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Optic atrophy, Abnormal patt... |
OMIM:256000 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Optic atrophy, Abnor... |
ORPHA:98755 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Respiratory failure |
ORPHA:71211 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... |
ORPHA:454836 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Degeneration of anterior horn cells, Tachypnea, Inspiratory ... |
OMIM:604320 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... |
OMIM:252320 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Cyanosis, Inspiratory stridor, Syringomyelia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... |
ORPHA:79126 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure, Optic atrophy |
OMIM:618233 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Facial palsy, Respiratory failure |
ORPHA:171433 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Atrophy/Degeneration affecting the brainstem, Tachypnea, Optic disc pallor, R... |
OMIM:615838 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Motor neuron atrophy, Dysp... |
ORPHA:803 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness |
OMIM:611067 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... |
OMIM:611560 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Optic disc pallo... |
OMIM:615512 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness... |
OMIM:606071 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder |
OMIM:263570 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cyanosis, Neona... |
ORPHA:95430 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Snakebite Envenomation |
|
Respiratory paralysis, Erythema, Angioedema, Respiratory failure, Ecchymosis, Epistaxis |
ORPHA:449285 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Achondroplasia |
|
Upper airway obstruction, Brain stem compression |
OMIM:100800 |
Joubert Syndrome 33 |
|
Apnea, Molar tooth sign on MRI |
OMIM:617767 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis, Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Niemann-Pick Disease, Type C2 |
|
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... |
OMIM:607625 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Telangiectasia of the skin, Telangiectasia, Abnormal brainstem morphology |
ORPHA:79279 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity |
OMIM:603689 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... |
ORPHA:98914 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... |
ORPHA:449280 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... |
ORPHA:199241 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower motor neuron m... |
OMIM:606070 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy |
OMIM:617186 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... |
ORPHA:60025 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Cyanosis |
OMIM:261680 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... |
ORPHA:2038 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology |
ORPHA:163961 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Death in childhood, Optic atrophy, Exertional dyspnea, Respiratory failure,... |
OMIM:220110 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... |
OMIM:310200 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation,... |
ORPHA:70 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Abnormality of mitochondrial metabolism |
ORPHA:391428 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Respiratory failure |
OMIM:616505 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Abnormal brainstem morphology, Optic atroph... |
ORPHA:70474 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Amyotrophic lateral sclerosis, Abnormal motor neuron morpholo... |
ORPHA:52430 |
Peripartum Cardiomyopathy |
|
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... |
ORPHA:563 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of the mitochondrion |
ORPHA:330050 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Respiratory insufficiency, Faci... |
ORPHA:258 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Pneumonia, Abnormal respiratory system physiology, Facial palsy, Respiratory fai... |
ORPHA:98905 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... |
ORPHA:244 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lissencephaly, Cyanotic episode |
ORPHA:284417 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Optic atrophy, Oli... |
ORPHA:370959 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Facial palsy, Respiratory failure |
ORPHA:171430 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
Bickerstaff Brainstem Encephalitis |
|
Abnormality of the autonomic nervous system, Decreased motor nerve conduction velocity, Hypercapn... |
ORPHA:79138 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic neuropathy, Respiratory insufficiency, Death in childhood, Optic atrophy, Respiratory failure |
OMIM:610505 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Optic atrophy, Recurrent pneumonia, Respirato... |
ORPHA:496641 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Wheezing, ... |
ORPHA:1329 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... |
ORPHA:1145 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Simplified gyral pattern, Acrocyanosis |
OMIM:614407 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Sudden episodic apnea, Cyanosis |
ORPHA:159 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure |
OMIM:619847 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Respiratory fa... |
OMIM:608836 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal pattern of respiration, Abnormal brainstem morphology, Abnormal brainstem MRI signal int... |
ORPHA:88619 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Infantile Krabbe Disease |
|
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Respiratory failure, Pr... |
ORPHA:206436 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Respiratory failure |
ORPHA:88618 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Dyspnea, Respiratory failure, Restrictive ventilatory defect |
ORPHA:26791 |
Leigh Syndrome |
|
Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal pattern of respiration, Respirat... |
ORPHA:506 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:3309 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... |
ORPHA:420741 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Myelitis, Respiratory failure, Respiratory failure requ... |
ORPHA:2912 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Optic neuropathy, Respiratory insufficiency, Cyanosis, Optic disc pallor, Death in infancy... |
OMIM:252010 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Joubert Syndrome 8 |
|
Hyperventilation, Optic disc pallor, Molar tooth sign on MRI, Prolonged neonatal jaundice |
OMIM:612291 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Exertional dyspn... |
ORPHA:99106 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Acrocya... |
ORPHA:183 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Respiratory failure, Facial palsy, Stillbirth |
OMIM:259720 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Central sleep apnea, Myelop... |
ORPHA:268882 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Apnea, Respiratory failure |
OMIM:617301 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Optic disc coloboma, Central apnea, N... |
OMIM:608091 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Optic disc coloboma, Central apnea, O... |
OMIM:213300 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... |
ORPHA:209905 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, Lip telan... |
OMIM:187300 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy |
ORPHA:31826 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure |
ORPHA:445038 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... |
ORPHA:3342 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Cyanosis |
OMIM:619879 |
Poems Syndrome |
|
Papilledema, Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, A... |
ORPHA:2905 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... |
ORPHA:276244 |
Listeriosis |
|
Respiratory distress, Miscarriage, Jaundice, Abnormal brainstem MRI signal intensity, Pneumonia, ... |
ORPHA:533 |
Japanese Encephalitis |
|
Respiratory distress, Abnormal pons morphology, Hyperintensity of MRI T2 signal of the spinal cor... |
ORPHA:79139 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:746 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Prolonged brainstem auditory evoked potentials, Abnormal medulla oblong... |
ORPHA:206448 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Abnormal autonomic nervous system physiology, Central hypoventilation, Cyanosis, Abnormal... |
ORPHA:293987 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death |
OMIM:266910 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial shape, Decreased activity ... |
ORPHA:17 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Respiratory failure, Pleural effusion |
ORPHA:679 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hypoplasia of the pons |
OMIM:617542 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:304120 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Gangliocytoma |
|
Syringomyelia, Spinal cord tumor, Abnormal brainstem morphology |
ORPHA:251937 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Spinal arteriovenous malformation, Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent ... |
OMIM:610655 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Hypoxemia, Intercostal mus... |
ORPHA:2020 |
Absence Of The Pulmonary Artery |
|
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... |
ORPHA:980 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Jaundice, Abnormality of the mitochondrion |
OMIM:214110 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Petechiae, Cough, Respiratory failure, Pneumonia, Pleural effusion, Ecchymo... |
ORPHA:340 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Spinal arteriovenous malformation, Palmar telangiectasia, Cyanosis, C... |
OMIM:600376 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea |
OMIM:618278 |
47,Xyy Syndrome |
|
Asthma, Abnormal brainstem morphology |
ORPHA:8 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Exertional dyspnea, Resp... |
ORPHA:365 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Tarp Syndrome |
|
Optic atrophy, Apnea, Cyanosis |
ORPHA:2886 |
Bloom Syndrome |
|
Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Telangiectasia, Rhinitis, R... |
ORPHA:125 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... |
ORPHA:31204 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the mitochondrion |
ORPHA:298 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Unilateral Polymicrogyria |
|
Giant somatosensory evoked potentials, Apnea, Cyanosis, Epistaxis |
ORPHA:268943 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Cyanosis, Cough, Tachypnea |
ORPHA:137675 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Respiratory failure, Death in infancy |
OMIM:300868 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
Arima Syndrome |
|
Occipital meningocele, Tachypnea, Dyspnea, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplas... |
OMIM:243910 |
Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Myelitis, Abnormality of the spinal cord, Abn... |
ORPHA:83597 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Abnormal brainstem MRI signal intensity |
ORPHA:254930 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:83629 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Sinusitis, Abnormal brainstem MRI signal intensity, Abnormal medulla ob... |
ORPHA:68 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure |
ORPHA:79404 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
Pitt-Hopkins Syndrome |
|
Sleep apnea, Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Aganglionic megacolon |
ORPHA:2896 |
Paget Disease Of Bone 2, Early-Onset |
|
Long-tract signs, Brain stem compression |
OMIM:602080 |
Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Respiratory failure, Recurrent pneumonia |
ORPHA:647 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:356961 |
Goodpasture Syndrome |
|
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... |
OMIM:233450 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Tick-Borne Encephalitis |
|
Abnormal autonomic nervous system physiology, Abnormal brainstem MRI signal intensity, Myelitis, ... |
ORPHA:297 |
Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Hypoplasia of the brainstem |
OMIM:617822 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Respiratory insufficiency, Respiratory failure requiring assisted ventilation, R... |
ORPHA:273 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure |
OMIM:613658 |
Costello Syndrome |
|
Tracheomalacia, Respiratory insufficiency, Vestibular schwannoma, Pneumothorax, Respiratory failu... |
OMIM:218040 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele |
OMIM:306955 |
Sialuria |
|
Abnormality of the mitochondrion |
ORPHA:3166 |
Familial Dysautonomia |
|
Optic atrophy, Orthostatic hypotension, Acrocyanosis |
ORPHA:1764 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension |
ORPHA:99050 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology |
ORPHA:2720 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea |
ORPHA:2299 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Erythema, Respiratory failure |
ORPHA:2556 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Pulmonary arterial hypertension, ... |
ORPHA:96334 |
Autosomal Recessive Polycystic Kidney Disease |
|
Respiratory failure, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Jaundice |
ORPHA:731 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Respiratory insufficiency, Respiratory failure, Jaundice |
ORPHA:646 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal brainstem white matter morphology, Myelopathy, Abnormality of the spinal cord |
ORPHA:139396 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Abnormality of Krebs cycle metabolism, Optic atrophy, Hyper... |
ORPHA:255210 |
Myhre Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:139210 |
Dermatomyositis |
|
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Pulm... |
ORPHA:221 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Generalized abnormality of skin, Respiratory failure |
ORPHA:805 |
Familial Cerebral Cavernous Malformation |
|
Focal T2 hypointense brainstem lesion, Vascular skin abnormality, Spinal cord lesion, Focal T2 hy... |
ORPHA:221061 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology, Abnormal brainstem morphology |
ORPHA:93256 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... |
ORPHA:740 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Postinfectious Vasculitis |
|
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Abnormality of the peripheral nervous ... |
ORPHA:48435 |
Primary Hyperoxaluria |
|
Optic atrophy, Optic disc pallor, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... |
ORPHA:93924 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Abnormal brainstem morphology |
ORPHA:464311 |
Neurofibromatosis Type 2 |
|
Bilateral vestibular schwannoma, Spinal cord tumor, Myelopathy, Brain stem compression, Facial palsy |
ORPHA:637 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Respiratory failure, Emphysema |
ORPHA:500150 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Optic nerve hypoplasia, Kinked brainstem, Hypoplasia of the brainstem |
OMIM:236670 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem |
ORPHA:444072 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Paroxysmal dyspnea, Cyanosis, Apneic episodes in infancy, Respiratory failu... |
ORPHA:99125 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice |
ORPHA:51 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Bruising susceptibility, Orthostatic hypotension, Poor wound healing... |
ORPHA:287 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Abnormality of the mitochondrion |
ORPHA:254892 |
Meningioma |
|
Papilledema, Progressive pulmonary function impairment, Abnormality on pulmonary function testing... |
ORPHA:2495 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea |
ORPHA:3384 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure |
ORPHA:3404 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology |
ORPHA:314621 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:51608 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Syringomyelia, Bruising susceptibility, Brain stem compression |
ORPHA:666 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis, Decreased nerve conduction velocity |
ORPHA:285 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |