Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis, Normal interictal EEG |
OMIM:607745 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis, Normal interictal EEG |
OMIM:601764 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormal peripheral action potential amplitude, Abnormality of the seventh ... |
ORPHA:90117 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Respiratory insufficiency, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:605253 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... |
ORPHA:2302 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Respiratory insufficiency, Apnea, Central hypoventilation, EEG abnormality |
OMIM:300673 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Death in infancy |
OMIM:618235 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Neonatal death, Hypoventilation |
OMIM:618232 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency |
ORPHA:640 |
Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Respiratory distress, Death in infancy |
OMIM:616341 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Death in infancy, Peripheral axonal neuropathy, Central apnea, Respira... |
OMIM:611722 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... |
ORPHA:79126 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... |
OMIM:601098 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Palpebral edema, Tongue edema, Pharyngeal edema, ... |
ORPHA:100057 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Neonatal deat... |
OMIM:265120 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Hydrops fetalis, Chylopericardium, Respiratory distres... |
ORPHA:2414 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... |
OMIM:601382 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Haddad Syndrome |
|
Polyhydramnios, Death in infancy, Central sleep apnea, Breathing dysregulation, Oligohydramnios, ... |
ORPHA:99803 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Facial palsy |
OMIM:615348 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis, Focal EEG discharges with secondary generalization, Increased theta f... |
ORPHA:1949 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... |
OMIM:619773 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:431329 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death |
OMIM:615228 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607706 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... |
OMIM:610978 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:618184 |
Congenital Myopathy 14 |
|
Polyhydramnios, Death in infancy, Apnea, Respiratory failure, Respiratory insufficiency due to mu... |
OMIM:618414 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... |
OMIM:616040 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Wheezing, Hypoxem... |
ORPHA:2902 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Abnormal motor n... |
OMIM:614399 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure |
OMIM:253300 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... |
OMIM:610913 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy |
OMIM:619057 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress |
ORPHA:2004 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Aspiration pneumonia, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607734 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, EEG abnormality, Respiratory distress, Apnea, Recurrent pn... |
ORPHA:314655 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity |
OMIM:620111 |
Pontocerebellar Hypoplasia Type 4 |
|
Polyhydramnios, Respiratory failure requiring assisted ventilation, Central apnea |
ORPHA:166063 |
Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:2942 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Apnea, Hypoventilation, Stridor |
OMIM:617143 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:610100 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:605588 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis, Interictal epileptiform activity, Normal interictal EEG |
ORPHA:306 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Respiratory insufficiency, Abnormality of peripheral nerve conduction, Decreased amplitude of sen... |
ORPHA:90103 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... |
OMIM:162500 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation |
OMIM:209880 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Respiratory failure, Neonatal death, Abnormal ante... |
OMIM:611890 |
Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respira... |
OMIM:618328 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Perry Syndrome |
|
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation |
OMIM:168605 |
Mogs-Cdg |
|
Polyhydramnios, Hypoventilation, Pulmonary edema, Absent brainstem auditory responses, Respirator... |
ORPHA:79330 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Hypsarrhythmia, Apneic episodes in infancy |
ORPHA:500545 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... |
OMIM:619751 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor |
OMIM:211530 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Bilateral facial palsy, Pulmonary fibrosis, Atelectasis, Bronchiolitis |
ORPHA:254361 |
Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... |
ORPHA:3348 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... |
OMIM:310200 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, EEG abnormality, Central apnea |
ORPHA:71277 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Motor axonal neuropathy, EEG abnormality, Sensory axonal neuropathy, Decreased ner... |
ORPHA:457205 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... |
OMIM:601596 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:180800 |
Congenital Disorder Of Glycosylation, Type Iib |
|
EEG with burst suppression, Hypoventilation, Generalized edema |
OMIM:606056 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity |
OMIM:612577 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor |
ORPHA:98890 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... |
OMIM:610910 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy |
OMIM:606595 |
Pneumocystosis |
|
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Interstitial pneumoniti... |
ORPHA:723 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... |
ORPHA:280234 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough |
ORPHA:50251 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Respiratory insufficiency, Apnea, EEG with burst suppression |
OMIM:617290 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:600361 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Apnea |
OMIM:617239 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Onion bulb formation, Decreased motor nerve conduction velocity, Int... |
OMIM:218000 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Decreased size of nerve terminals, Orthopnea, Restrictive ventilato... |
ORPHA:98913 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, EEG with abnormally slow frequencies, Recurrent pneumonia, EEG with focal epilep... |
OMIM:618493 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:101082 |
Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Edema, Respiratory distress |
ORPHA:1423 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Apnea, Sensory axonal neuropathy, Respiratory failure, Neonatal death |
OMIM:610127 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... |
OMIM:607684 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Ventilator dependence with i... |
OMIM:604320 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal motor evoked potentials |
ORPHA:99939 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Peripheral axonal neur... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Motor conduction block, Decreased nerve conduction velocity, Restricti... |
ORPHA:99948 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Optic disc pallor, Death in infancy |
OMIM:618240 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Nocturnal hypoventilation, Intermittent episodes of respiratory i... |
ORPHA:324604 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Respiratory insufficiency, Degeneration of anterior horn cells, Facial palsy, Decreased compound ... |
OMIM:301830 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation |
OMIM:607155 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss |
OMIM:620068 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential |
OMIM:618400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Congenital Myopathy 3 With Rigid Spine |
|
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:602771 |
Solar Urticaria |
|
Dermatographic urticaria, Edema, Dyspnea, Periorbital edema, Angioedema, Wheezing, Urticaria |
ORPHA:97230 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... |
OMIM:607831 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118200 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity, Myelin outfoldings |
OMIM:615284 |
Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... |
ORPHA:70 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Axonal loss, Pulmonary hypoplasia, Peripheral axonal neuropathy, Neonatal re... |
OMIM:616867 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress |
ORPHA:77260 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Respiratory insufficiency, Congenital laryngeal stridor, Decreased nerve conduction velocity, Neo... |
OMIM:618356 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Cerebral edema, EEG with burst suppression, Hypsarrhythmia, Apnea |
ORPHA:439218 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
ORPHA:101081 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Optic atrophy, Degeneration of anterior horn cells, Peripheral axon... |
ORPHA:2254 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Respiratory insufficiency, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Acute Lung Injury |
|
Hypoxemia, Respiratory distress, Edema, Dyspnea, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Decreased compound muscle action potential amplitude, Dyspnea, Facial palsy |
OMIM:603511 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrops fetali... |
OMIM:617300 |
Typical Nemaline Myopathy |
|
Respiratory insufficiency, Polyhydramnios, Nocturnal hypoventilation |
ORPHA:171436 |
Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity |
OMIM:618404 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Respiratory failure, EEG with burst suppression, Central sleep apnea, Apnea, Neonatal respiratory... |
ORPHA:168486 |
Staphylococcal Necrotizing Pneumonia |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi... |
ORPHA:36238 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Resp... |
ORPHA:2590 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Facial palsy |
ORPHA:370968 |
Folinic Acid-Responsive Seizures |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Respiratory distress, Apnea, EEG with general... |
ORPHA:79097 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Dyspnea,... |
ORPHA:2357 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked pote... |
ORPHA:98755 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory insufficiency due to muscle wea... |
OMIM:254090 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:249900 |
Cednik Syndrome |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:66631 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Cyanosis, Exertional dyspnea, Hemothorax, Pulmon... |
ORPHA:199241 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Decre... |
ORPHA:79127 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... |
ORPHA:2257 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Polyhydramnios, Apneic episodes in infancy |
OMIM:619967 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:145900 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ... |
ORPHA:99931 |
Lethal Congenital Contracture Syndrome 5 |
|
EEG with burst suppression, Respiratory insufficiency, Decreased nerve conduction velocity, Death... |
OMIM:615368 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss |
ORPHA:85446 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Stevenson-Carey Syndrome |
|
Central hypoventilation |
OMIM:611961 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cerebral edema, Hypoventilation, Aspi... |
ORPHA:258 |
Acquired Methemoglobinemia |
|
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress |
ORPHA:464453 |
Leigh Syndrome With Cardiomyopathy |
|
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation |
ORPHA:70474 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Dyspnea, Decreased nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:614895 |
Cap Myopathy |
|
Central hypoventilation |
ORPHA:171881 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Peripheral demyelination |
ORPHA:71211 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Decreased motor nerve conduction velocity, Decreased distal sensory nerve... |
ORPHA:99953 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Hypoventilation |
ORPHA:610 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93476 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity |
OMIM:614932 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Respiratory distress, Tachypnea |
ORPHA:45452 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea |
OMIM:619482 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
Developmental And Epileptic Encephalopathy 90 |
|
EEG with burst suppression, Hypsarrhythmia, Apneic episodes in infancy |
OMIM:301058 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy, EEG abnormality |
OMIM:245200 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... |
OMIM:614299 |
Primary Effusion Lymphoma |
|
Pleural effusion, Dyspnea, Pericardial effusion |
ORPHA:48686 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, EEG abnormality |
OMIM:261680 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO |
ORPHA:747 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Sensory ... |
ORPHA:139578 |
Prader-Willi Syndrome |
|
Polyhydramnios, Cutaneous photosensitivity, Hypoventilation, Oligohydramnios, Sleep apnea |
OMIM:176270 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Respiratory distress, Atelectasis, Death in infancy |
OMIM:300219 |
X-Linked Centronuclear Myopathy |
|
Polyhydramnios, Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress |
ORPHA:596 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Leigh Syndrome |
|
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, Optic atrophy |
OMIM:256000 |
Avian Influenza |
|
Pulmonary infiltrates, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarria... |
ORPHA:454836 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Optic atrophy |
OMIM:615330 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
Hyperekplexia 4 |
|
Respiratory failure, Hypsarrhythmia |
OMIM:618011 |
Hereditary Angioedema Type 1 |
|
Dermatographic urticaria, Edema of the dorsum of hands, Intestinal edema, Respiratory distress, D... |
ORPHA:100050 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... |
ORPHA:254864 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Neonatal death, Apnea, Erythema |
OMIM:610015 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morpholog... |
OMIM:612387 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Stridor, Intercostal muscle weakness, Respirator... |
OMIM:606071 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Nemaline Myopathy 2 |
|
Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness |
OMIM:256030 |
Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary infiltrates, Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory... |
ORPHA:70578 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Decreased compound muscle action potential amplitude, Peripheral demyelination |
OMIM:618279 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Polyhydramnios, EEG with polyspike wave complexes, Centr... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Polyhydramnios, EEG with polyspike wave complexes, Centr... |
ORPHA:98914 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Death in infancy |
OMIM:615042 |
Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Motor axonal neuropathy |
ORPHA:48431 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Facial paralysis, R... |
OMIM:605711 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:603472 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Neuronopathy, Distal Hereditary Motor, Type X |
|
Decreased compound muscle action potential amplitude, Bronchiectasis, Bruising susceptibility |
OMIM:620080 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Respiratory insufficiency, Apnea |
OMIM:618198 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Decreased number of large p... |
OMIM:162400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Jaundice, Anasarca, Tracheomalacia, Ascites |
OMIM:203700 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... |
OMIM:619026 |
Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:99950 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... |
OMIM:245400 |
Scedosporiosis |
|
Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy... |
ORPHA:449280 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Pneumothorax, Optic atrophy, Emphysema, Restrictive ventilatory defect, Dy... |
ORPHA:538 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Oligohydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Congenital Tracheomalacia |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Restrictive ventilatory defect, Facial palsy |
OMIM:606612 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
Charcot-Marie-Tooth Disease Type 4C |
|
Respiratory insufficiency, Decreased motor nerve conduction velocity, Hypoventilation |
ORPHA:99949 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Oligohydramnios |
OMIM:616733 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis |
ORPHA:444013 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Neona... |
OMIM:620014 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity |
ORPHA:3115 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, EEG with burst suppression, Death in infancy |
OMIM:614498 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor |
OMIM:608800 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, EEG abnormality, Decreased motor nerve conduction velocity, Abnormal... |
ORPHA:79138 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... |
OMIM:201300 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of peripheral nerve conduction, Aspiration pneumonia, Optic atrophy, Abnormal autonom... |
ORPHA:35069 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:619851 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Multifocal epileptiform discharges, EEG with abnormally slow frequencies, Re... |
ORPHA:70472 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Hypoxemia... |
ORPHA:2038 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Respiratory insufficiency, Hypsarrhythmia, Jaundice, Apnea |
OMIM:608093 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Hypsarrhythmia, Inspiratory stridor |
OMIM:600721 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... |
OMIM:615512 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v... |
ORPHA:1187 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Pedal edema, Hypoxemia, Cyanosis |
ORPHA:439 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Optic disc pallor, Death in childhood, Tachypnea |
OMIM:615838 |
Nipah Virus Disease |
|
Cough, Respiratory distress |
ORPHA:99825 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Edema of the dorsum of hands, Interictal EEG abnormality, Edema of the dorsum of feet, Respirator... |
ORPHA:544503 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Developmental And Epileptic Encephalopathy 99 |
|
Multifocal epileptiform discharges, Central apnea |
OMIM:619606 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor |
ORPHA:142 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Motor axonal neuropathy, Decreased amplitude of sensory action potentials, Abnormality of the aut... |
ORPHA:36386 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Pericardial effusion, EEG with burst suppression, Respiratory distress... |
OMIM:261740 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:302800 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... |
OMIM:244400 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Interictal EEG abnormality, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Polyhydramnios, Dyspnea, Respiratory distress |
ORPHA:2759 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Abnormal lower motor neuron morphology |
OMIM:613954 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Aspiration, Decreased nerve conduction velocity, Respirat... |
OMIM:606070 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia |
OMIM:606763 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Oligohydramnios, Apnea |
OMIM:618253 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Pulmonary hypoplasia, Facial palsy |
ORPHA:171430 |
Leigh Syndrome With Leukodystrophy |
|
Apnea |
ORPHA:255241 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Respiratory insufficiency, Apnea |
OMIM:618226 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:612674 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:616688 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral hypomyelina... |
OMIM:604168 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Central hypoventilation, Obstructive... |
ORPHA:293987 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperventilation, Increased theta freque... |
ORPHA:98784 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress |
OMIM:620011 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude |
OMIM:606353 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Reduced vital capacity |
ORPHA:329478 |
Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Polyhydramnios |
OMIM:617180 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Jaundice, Oligohydramnios, Recurrent pneumonia, Respiratory failure, Ascites, Sp... |
ORPHA:731 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Peripheral axonal neuropathy, Optic atrophy |
OMIM:616505 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Abnormal respiratory system physiology, Facial diplegia, Respir... |
ORPHA:98905 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity |
ORPHA:319514 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... |
OMIM:618426 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic atrophy, Facial palsy |
OMIM:608804 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
Microlissencephaly-Micromelia Syndrome |
|
Polyhydramnios, Palpebral edema, Respiratory distress, EEG abnormality |
ORPHA:50810 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Hyperekplexia 3 |
|
Apnea, Respiratory arrest |
OMIM:614618 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Cough |
ORPHA:86812 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615419 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Polyhydramnios, Nonimmune hydrops fetalis, Respiratory distress, Ascit... |
ORPHA:367 |
Atypical Rett Syndrome |
|
Abnormal pattern of respiration, EEG abnormality, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis |
ORPHA:2314 |
Sialidosis Type 1 |
|
Vascular skin abnormality, Decreased nerve conduction velocity, EEG abnormality |
ORPHA:812 |
Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity |
ORPHA:1933 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Respiratory failure, Respiratory failure requiring ass... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Respiratory insufficiency, Cerebral edema, Apnea |
OMIM:614462 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93474 |
Neuromuscular Oculoauditory Syndrome |
|
Aspiration, Decreased amplitude of sensory action potentials, Respiratory distress, Peripheral hy... |
OMIM:618733 |
Rett Syndrome |
|
Intermittent hyperventilation, Apnea, EEG abnormality |
OMIM:312750 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Jaundice, Neonatal respiratory ... |
OMIM:607625 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, EEG abnormality |
OMIM:608799 |
Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Ed... |
ORPHA:90051 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration |
ORPHA:79312 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Optic atrophy, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... |
ORPHA:485421 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Zygomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural effusion, Air crescent si... |
ORPHA:73263 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
Hypophosphatasia, Infantile |
|
Apnea, Polyhydramnios, Stillbirth, Death in infancy |
OMIM:241500 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death |
OMIM:601612 |
Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Decreased nerve conduction velocity, Respiratory insufficiency due to muscle weakness |
ORPHA:600 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Optic atrophy, Respiratory distress, Respiratory failure, Death in childhood,... |
OMIM:220110 |
Pseudo-Torch Syndrome 3 |
|
Respiratory insufficiency, Apnea, Death in infancy |
OMIM:618886 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... |
ORPHA:168563 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory tract infection, Exertional dyspnea, Motor axonal neuropat... |
ORPHA:365 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Petechiae, Purpura, Nonimmune hydrops fetalis, Respiratory distress, Apnea, Ascit... |
OMIM:608013 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Pulmonary hypoplasia, ... |
ORPHA:536467 |
Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Stridor |
OMIM:608390 |
Farber Disease |
|
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... |
ORPHA:333 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death |
OMIM:245650 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Recurrent respiratory infections, Respiratory failure |
OMIM:609981 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Peri... |
OMIM:256840 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic disc pallor, O... |
OMIM:601152 |
Tularemia |
|
Pleural effusion, Pneumonia, Cough, Respiratory distress |
ORPHA:3392 |
Propionic Acidemia |
|
Apnea, Dehydration, Tachypnea |
OMIM:606054 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Periorbital edema, E... |
ORPHA:141083 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:256600 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure, Peripheral axonal neuropathy |
OMIM:156530 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance, Decreased nerve conduction velocity, Opt... |
OMIM:610651 |
Infantile Krabbe Disease |
|
Optic atrophy, Respiratory distress, Decreased nerve conduction velocity, Respiratory failure, Pr... |
ORPHA:206436 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Dyspnea, Respiratory distress, Optic atrophy |
ORPHA:2707 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Abnormal autonomic nervous system physiology, Axonal loss, Cough, Decreased distal sensory nerve ... |
OMIM:614575 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Polyhydramnios, Cutis marmorata, Death in infancy |
OMIM:602613 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Irregular respiration, Inspiratory stridor, Respiratory distress, Death in infancy |
OMIM:604377 |
Snakebite Envenomation |
|
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema |
ORPHA:449285 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of peripheral nerves, Axonal degeneration, Abnormal sensory nerve conduction velocity |
ORPHA:88628 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, Apnea, Hypercapnia, Apneic episodes in infancy |
OMIM:618222 |
Auriculocondylar Syndrome 1 |
|
Apnea, Snoring |
OMIM:602483 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Polyhydramnios |
OMIM:612949 |
Myotonic Dystrophy 1 |
|
Polyhydramnios, Respiratory distress |
OMIM:160900 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Progeroid facial appearan... |
OMIM:613177 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, EEG with focal sharp waves, EEG with polyspike wave complexes |
ORPHA:284417 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Dravet Syndrome |
|
Cyanotic episode, EEG with generalized epileptiform discharges, Multifocal epileptiform discharge... |
ORPHA:33069 |
Cholera |
|
Palmoplantar cutis laxa, Aspiration pneumonia, Miscarriage, Dehydration, Hyperventilation, Tachypnea |
ORPHA:173 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, EEG with generalized slow activity |
OMIM:300055 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... |
ORPHA:1329 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Pedal edema, Cyanosis, Exertional dyspnea, Breathing dysregulati... |
ORPHA:99103 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti... |
OMIM:618278 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... |
ORPHA:99106 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Optic atrophy |
ORPHA:391428 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
Myotonia Fluctuans |
|
Apnea, Stridor |
|