Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Cyanosis, Apnea |
OMIM:607745 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Cyanosis, Apnea |
OMIM:601764 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... |
OMIM:605253 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Apnea |
OMIM:610992 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea, Focal EEG discharges with secondary generalization, Increased theta f... |
ORPHA:1949 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Hypsarrhythmia |
OMIM:616341 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency |
ORPHA:640 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... |
OMIM:611228 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema |
OMIM:267450 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme... |
OMIM:601098 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
EEG with focal slow activity, Apnea, Multifocal epileptiform discharges, Respiratory insufficiency |
ORPHA:209370 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... |
OMIM:608323 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Polyhydramnios |
ORPHA:166063 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium,... |
ORPHA:2414 |
Benign Familial Infantile Epilepsy |
|
Normal interictal EEG, Cyanosis, Apnea, Interictal epileptiform activity |
ORPHA:306 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... |
ORPHA:2932 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... |
OMIM:618414 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Benign Familial Neonatal-Infantile Seizures |
|
Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea |
ORPHA:140927 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Facial palsy |
OMIM:615348 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Apnea, Central hypoventilation, Nonimmune hydrops fetalis, Neonatal death |
OMIM:620167 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... |
ORPHA:2902 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Glycine Encephalopathy 2 |
|
EEG with burst suppression, Respiratory failure |
OMIM:620398 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... |
ORPHA:206594 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... |
ORPHA:314655 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Haddad Syndrome |
|
Death in infancy, Central hypoventilation, Polyhydramnios, Breathing dysregulation, Oligohydramnios |
ORPHA:99803 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, EEG abnormality, Cyanosis |
ORPHA:71277 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Hypsarrhythmia |
ORPHA:500545 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:90103 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity |
OMIM:620111 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... |
OMIM:618328 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes |
DECIPHER:29 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Respiratory insufficiency d... |
OMIM:611890 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
EEG with burst suppression, Apnea, Respiratory insufficiency |
OMIM:617290 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Generalized edema, Absent brainstem auditory responses, Ap... |
ORPHA:79330 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... |
OMIM:162500 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Bilateral facial palsy, Exertional dyspnea |
ORPHA:254361 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios |
OMIM:300580 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal peripheral action p... |
ORPHA:457205 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, EEG with burst suppression, Hypsarrhythmia, Facial erythema, Cerebral edema |
ORPHA:439218 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Multifocal epileptiform discharges, Hypsarrhythmia, EEG with general... |
ORPHA:79097 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, EEG with burst suppression, Generalized edema |
OMIM:606056 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy, Polyhydramnios |
OMIM:619967 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy |
OMIM:606595 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:600361 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity |
OMIM:612577 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... |
OMIM:218000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Death in infancy |
OMIM:620275 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res... |
ORPHA:98913 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Developmental And Epileptic Encephalopathy 90 |
|
EEG with burst suppression, Apneic episodes in infancy, Hypsarrhythmia |
OMIM:301058 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal motor evoked potentials |
ORPHA:99939 |
Classic Multiminicore Myopathy |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... |
ORPHA:324604 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... |
OMIM:607684 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Tachypn... |
OMIM:604320 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Peripheral axonal neur... |
ORPHA:101077 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
EEG with focal epileptiform discharges, Hypoventilation, Recurrent pneumonia, EEG with abnormally... |
OMIM:618493 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure, Death in infancy |
OMIM:618240 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:99948 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Congenital Myopathy 3 With Rigid Spine |
|
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:602771 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation |
OMIM:607155 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Angioedema, Wheezing, Urticaria, Dermatographic urticaria |
ORPHA:97230 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor axonal neuropathy |
OMIM:620068 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Erythema, Apnea |
OMIM:610015 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
EEG abnormality, Cyanosis, Apnea |
OMIM:261680 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation |
OMIM:615284 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Typical Nemaline Myopathy |
|
Nocturnal hypoventilation, Respiratory insufficiency, Polyhydramnios |
ORPHA:171436 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nerve conduction veloc... |
OMIM:618356 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... |
ORPHA:101097 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ... |
OMIM:301830 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Exertional dyspnea, ... |
ORPHA:199241 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory insuffic... |
OMIM:254090 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... |
ORPHA:98755 |
Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity |
OMIM:618404 |
Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anteri... |
ORPHA:2254 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential |
OMIM:618400 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Peripheral axonal neuropathy, Axonal loss, Respiratory failure, Pu... |
OMIM:616867 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Facial palsy, Respiratory insufficiency |
ORPHA:370968 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency |
OMIM:618228 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus... |
ORPHA:2590 |
Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Retinal telangiectasia |
OMIM:620155 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, EEG with burst suppression, Apnea |
OMIM:614498 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Ol... |
ORPHA:60041 |
Stevenson-Carey Syndrome |
|
Central hypoventilation |
OMIM:611961 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
ORPHA:101081 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration |
OMIM:608800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Dyspnea, Decreased compound muscle action potential amplitude, Facial palsy |
OMIM:603511 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis |
ORPHA:45452 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Apnea, Respiratory insufficiency, Hypsarrhythmia |
OMIM:608093 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:249900 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea, Polyhydramnios |
OMIM:256030 |
Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Multifocal epileptiform discharges |
OMIM:619606 |
Cap Myopathy |
|
Central hypoventilation |
ORPHA:171881 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... |
OMIM:618186 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Axonal loss, Decreased amplitude of sensory action potentials |
ORPHA:85446 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor, Hypsarrhythmia |
OMIM:600721 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Decreased nerve conduction velocity, Dyspnea, Peripheral axonal neuropathy |
ORPHA:435387 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Death in infancy, EEG with burst suppression, Respiratory in... |
OMIM:615368 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency |
OMIM:618226 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramnios |
ORPHA:596 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Oligohydramnios |
OMIM:618253 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93476 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity |
OMIM:614932 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Krabbe Disease |
|
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Peripheral demyelination |
OMIM:245200 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
Hyperekplexia 4 |
|
Respiratory failure, Hypsarrhythmia |
OMIM:618011 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Atypical Rett Syndrome |
|
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:615330 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia |
ORPHA:238459 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Respiratory insufficiency, Apnea, Cerebral edema |
OMIM:614462 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... |
OMIM:620296 |
Leigh Syndrome |
|
Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Prader-Willi Syndrome |
|
Hypoventilation, Cutaneous photosensitivity, Polyhydramnios, Oligohydramnios |
OMIM:176270 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... |
OMIM:607250 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pericardial effusion, EEG with burst suppression, Anasarca... |
OMIM:261740 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:612387 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Peripheral demyelination |
ORPHA:71211 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... |
ORPHA:139578 |
Rett Syndrome |
|
EEG abnormality, Apnea, Intermittent hyperventilation |
OMIM:312750 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Abnormality of peripheral nerve conduction |
ORPHA:48431 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Hypophosphatasia, Infantile |
|
Death in infancy, Stillbirth, Apnea, Polyhydramnios |
OMIM:241500 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Respiratory insufficiency |
OMIM:618886 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, EEG with focal spikes, Interictal epileptiform activit... |
ORPHA:98784 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... |
OMIM:620014 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary in... |
ORPHA:538 |
Congenital Myasthenic Syndrome |
|
EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent ... |
ORPHA:98914 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Axonal loss |
OMIM:118300 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Jaundice, Anasarca, Tracheomalacia, Ascites |
OMIM:203700 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Oligohydramnios |
OMIM:616733 |
Propionic Acidemia |
|
Tachypnea, Apnea, Dehydration |
OMIM:606054 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis |
ORPHA:444013 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Neonatal death, Ascites, ... |
OMIM:608013 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Facial palsy |
OMIM:606612 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Pedal edema |
ORPHA:439 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Polyhydramnios |
OMIM:612949 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Interictal EEG abnormality, Edema of the dorsum of feet, Edema of the dorsu... |
ORPHA:544503 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, EEG with generalized slow activity |
OMIM:300055 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:603472 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude, Bruising susceptibility, Bronchiectasis |
OMIM:620080 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:162400 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... |
OMIM:201300 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Apneic episodes in infancy, Diffuse axonal swelling,... |
ORPHA:35069 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... |
OMIM:619026 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios |
ORPHA:2759 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia, Polyhydramnios |
OMIM:617180 |
48,Xxyy Syndrome |
|
Asthma, Apnea |
ORPHA:10 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:99950 |
Myotonia Fluctuans |
|
Stridor, Apnea |
ORPHA:99734 |
Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity |
OMIM:613724 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:619851 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Re... |
ORPHA:1187 |
Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Aspiration, Abnormal lower motor neuron morphology, Respirat... |
OMIM:606070 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Pulmonary hypoplasia, Facial palsy |
ORPHA:171430 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity |
ORPHA:3115 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Polyhydramnios |
OMIM:618291 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Jaundice, Palpebral edema, Apnea, Death in childhood |
OMIM:214110 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Respiratory failure |
OMIM:616505 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Edema, Jaundice, Tachypnea, Dehydration, Hypsarrhythmia, EEG abnormality |
ORPHA:20 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Facial diplegia, Reduced vital capacity |
ORPHA:329478 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Decreased compound muscle... |
OMIM:602433 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Multifocal epileptiform discharges, EEG with abnormally slow frequencies |
ORPHA:70472 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, As... |
ORPHA:731 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, EEG abnormality, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:612674 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:302800 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Facial palsy, Abnormal respiratory system physiology... |
ORPHA:98905 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Cough, Abnormality of the autonomic nervous system, Motor axonal neuropathy, ... |
ORPHA:36386 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Respiratory insufficiency, Ascit... |
ORPHA:367 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Respiratory failure |
OMIM:613954 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest |
ORPHA:293987 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Jaundice, Abnormal respi... |
ORPHA:90051 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity |
ORPHA:319514 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration |
ORPHA:79312 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... |
ORPHA:555874 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Necrotizing Enterocolitis |
|
Ascites, Apnea, Edema |
ORPHA:391673 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, P... |
OMIM:604168 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:256600 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, EEG abnormality, Telangiectasia |
OMIM:608799 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529799 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Interictal epileptiform activity |
OMIM:620166 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy |
OMIM:608804 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Aspiration... |
OMIM:618733 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:616688 |
Sialidosis Type 1 |
|
Decreased nerve conduction velocity, EEG abnormality, Vascular skin abnormality |
ORPHA:812 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93474 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615419 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude |
OMIM:606353 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity |
ORPHA:1933 |
Fatal Familial Insomnia |
|
Apnea |
OMIM:600072 |
Plaa-Associated Neurodevelopmental Disorder |
|
Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands, Respiratory insufficiency, Hyps... |
ORPHA:521426 |
Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Abnormal cranial nerve morphology, Acute infecti... |
ORPHA:73263 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Dehydration, EEG abnormality, Aspiration, Flushing |
ORPHA:2131 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... |
OMIM:220110 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Apnea |
OMIM:617050 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia |
OMIM:230900 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Dravet Syndrome |
|
Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, EEG with focal ... |
ORPHA:33069 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Aspiration, Respiratory insufficiency due to muscle weakness |
ORPHA:600 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration |
OMIM:614653 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Polyhydramnios |
OMIM:160900 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
EEG with polyspike wave complexes, Cyanotic episode, EEG with focal sharp waves |
ORPHA:284417 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Optic atrophy |
ORPHA:391428 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Death in infancy |
ORPHA:178481 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
Cholera |
|
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... |
ORPHA:365 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Periphe... |
ORPHA:99106 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... |
OMIM:613177 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Pitt-Hopkins-Like Syndrome 1 |
|
EEG abnormality, Hyperventilation |
OMIM:610042 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hyperventilation |
OMIM:612291 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Cutaneous photosensitivity, Optic atrophy, Progeroid facial ... |
OMIM:610651 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Joubert Syndrome With Renal Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Polyhydramnios |
OMIM:202650 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dehydration |
OMIM:212140 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... |
OMIM:601152 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Dyspnea, Wheezi... |
ORPHA:141127 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Metatropic Dysplasia |
|
Peripheral axonal neuropathy, Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation, EEG with generalized polyspikes, EEG with generalized epileptiform... |
ORPHA:163681 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... |
ORPHA:88628 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Childhood Absence Epilepsy |
|
EEG with spike-wave complexes (2.5-3.5 Hz), Hyperventilation |
ORPHA:64280 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... |
OMIM:256840 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, Optic disc pallor, EEG abnormality, Hypsarrhythmia |
ORPHA:565624 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, EEG with burst suppression, Polyhydramnios |
ORPHA:329178 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Nocturnal hypoventilation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Nocturnal hypoventilation |
ORPHA:352665 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Unilateral Polymicrogyria |
|
Giant somatosensory evoked potentials, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Axonal loss, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p... |
OMIM:614575 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea |
OMIM:615157 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, D... |
ORPHA:363705 |
Tenorio Syndrome |
|
Recurrent pneumonia, Apnea |
OMIM:616260 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea, Cyanosis |
ORPHA:860 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Cerebral edema |
OMIM:252010 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... |
OMIM:610505 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sen... |
OMIM:617302 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy |
ORPHA:3078 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Respiratory insufficiency, Apnea, Edema |
OMIM:617527 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:3309 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... |
ORPHA:292 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Pedal ede... |
ORPHA:980 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Premature sk... |
OMIM:601559 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination |
OMIM:609033 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ede... |
ORPHA:31826 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation |
ORPHA:438213 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Onion bulb formation |
OMIM:610532 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea |
OMIM:614969 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity |
OMIM:603516 |
Developmental And Epileptic Encephalopathy 2 |
|
EEG with generalized slow activity, Hypsarrhythmia, Hyperventilation |
OMIM:300672 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased sensory nerve ... |
ORPHA:298 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Respirato... |
ORPHA:496641 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Apnea |
OMIM:609069 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death |
OMIM:231680 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, EEG ... |
ORPHA:522077 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Dehydration |
OMIM:251000 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... |
ORPHA:420741 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Pericardial effusion, Jaundice, Tachypnea |
ORPHA:26793 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Death in infancy, Rhinitis, Recurrent respiratory infections |
ORPHA:93473 |
Sandestig-Stefanova Syndrome |
|
EEG abnormality, Respiratory failure |
OMIM:618804 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Meckel Syndrome 14 |
|
Cyanosis, Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Oligohydramnios |
OMIM:619879 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:618329 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Polyhydramnios |
OMIM:151210 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Polyhydramnios, Episodic respiratory distress, Chronic pulmonary ... |
ORPHA:1199 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Jaundice, Ascites |
OMIM:617156 |
Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3426 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... |
OMIM:164400 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:270550 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Pulmonary hypoplasia, Chronic ... |
OMIM:615636 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor nerve con... |
ORPHA:2912 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Asth... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Tracheomalacia, O... |
OMIM:608022 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth |
OMIM:259720 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy |
ORPHA:101076 |
Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Acrocyanosis, Rest... |
ORPHA:2905 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Decreased motor nerve conduction velocity, EEG with ... |
ORPHA:79139 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Recurrent ... |
OMIM:223900 |
Glass Syndrome |
|
Apnea |
OMIM:612313 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hyperventilation |
OMIM:618775 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Facial palsy, Hypoxemia, EEG abnormality, Decreased se... |
ORPHA:456312 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:616192 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Cough |
ORPHA:579 |
Genitopatellar Syndrome |
|
Apnea |
ORPHA:85201 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Prematurely aged appearance, Abnormal auditory evoked potentials, Optic neurop... |
ORPHA:909 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309256 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Recurrent pneumonia, Edema |
OMIM:607143 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers |
ORPHA:477817 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea |
ORPHA:466722 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Pedal edema, Cough, Pulmonary arterial hyp... |
ORPHA:228116 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Onion bulb formation, Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy |
ORPHA:320375 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity |
OMIM:616652 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309263 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Erythema, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Spontaneous, recurrent epistaxis, Jaundice, Bruising suscept... |
OMIM:214500 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Atelectasis, Asthma, Chronic pulmonary obstruction, Optic atrophy, Abnorma... |
ORPHA:567 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation |
OMIM:617799 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Progeroid facial appearance, Optic atrophy, Cutaneous photos... |
ORPHA:90321 |
Tarp Syndrome |
|
Cyanosis, Apnea |
ORPHA:2886 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... |
OMIM:229300 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea |
ORPHA:395 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Death in infancy, Neonatal respiratory distress, Polyhydramnios, Interictal epileptiform activity... |
OMIM:618922 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616271 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Marshall-Smith Syndrome |
|
Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr... |
OMIM:602535 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Polyhydramnios |
OMIM:100800 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea |
ORPHA:2299 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Ogden Syndrome |
|
Apnea, Prematurely aged appearance, Facial wrinkling, Lymphedema, Jaundice, Oligohydramnios, Pulm... |
OMIM:300855 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:614863 |
Mosaic Variegated Aneuploidy Syndrome |
|
Increased nuchal translucency, Ascites, Apnea, Polyhydramnios |
ORPHA:1052 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency, Pulmonary arterial hypertension |
ORPHA:800 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Apnea, Polyhydramnios, Oligohydramnios |
OMIM:300373 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Leigh Syndrome |
|
Optic atrophy, Hypsarrhythmia, Respiratory failure, Sensory axonal neuropathy, Abnormal pattern o... |
ORPHA:506 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling |
OMIM:612852 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615663 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy |
ORPHA:261476 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Abnormal peripheral myelination... |
OMIM:133540 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Orthostatic hypotension, Abnormal pleura morphology, Optic atro... |
ORPHA:1764 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, EEG a... |
ORPHA:534 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Optic atrophy, Cough, Pulmonary edema |
ORPHA:137675 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Edema, Tachypnea, Ecchymosis |
ORPHA:36234 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Cough |
ORPHA:90658 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Decreased nerve conduction velocity, Jaundice, Pleur... |
ORPHA:167 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration, Hypsarrhythmia |
OMIM:617020 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Oligohydramnios |
ORPHA:3206 |
Double Outlet Left Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3427 |
Shprintzen-Goldberg Syndrome |
|
Apnea |
ORPHA:2462 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Stridor, Tracheomalac... |
OMIM:114290 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Abnormal peripheral myelination... |
OMIM:216400 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema |
ORPHA:1546 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia, Death in childhood |
OMIM:617303 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Pedal edema, H... |
ORPHA:97214 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Hypsarrhythmia |
ORPHA:468699 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Decreased distal sensory nerve action potential, Optic atrophy, Respirato... |
ORPHA:99956 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites |
OMIM:620369 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Generalized edema |
OMIM:617478 |
Q Fever |
|
Respiratory distress, Pneumonia, Pericardial effusion, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest, Dehydration |
ORPHA:31824 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
Mgat2-Cdg |
|
Respiratory distress, Hydrops fetalis, Hypsarrhythmia |
ORPHA:79329 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... |
ORPHA:125 |
Encephalitis Lethargica |
|
Hyperventilation |
ORPHA:83600 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Pedal edema |
ORPHA:98754 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy |
ORPHA:95 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bruising susceptibility, Apnea, Chronic rhinitis |
ORPHA:667 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Pedal edema |
ORPHA:98793 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Petechiae, Hypopnea, Purpura |
ORPHA:2330 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... |
ORPHA:3260 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Pedal edema |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Pedal edema |
ORPHA:177901 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Hypsarrhythmia, Death in infancy |
OMIM:610768 |
Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... |
ORPHA:548 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy |
OMIM:259900 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Hydrops fetalis, Dehydration, Pulmonary arter... |
ORPHA:79282 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Fetal ascites, Asthma,... |
OMIM:619503 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Bohring-Opitz Syndrome |
|
Apnea |
ORPHA:97297 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Conjunctival telangiecta... |
OMIM:606002 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios |
OMIM:618188 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Ascites, Prolonged neonatal jaundice |
OMIM:256810 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Respiratory ... |
ORPHA:79404 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Decreased nerve conduction velocity, Recurrent upper respiratory tract infections, O... |
ORPHA:580 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Respiratory failur... |
ORPHA:805 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough |
ORPHA:537 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity |
OMIM:261515 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
Acute Liver Failure |
|
Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... |
ORPHA:90062 |
Wolfram Syndrome |
|
Central apnea, Respiratory insufficiency |
ORPHA:3463 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa |
OMIM:123790 |
Wilson Disease |
|
Decreased nerve conduction velocity, Jaundice |
OMIM:277900 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia |
ORPHA:1051 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Acrocyanosis, Apnea |
ORPHA:285 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Premature graying of hair, Cutaneous photosensit... |
ORPHA:90324 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Polyhydramnios |
OMIM:306955 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Optic disc pallor, Peripheral axonal neuropathy, Decreased n... |
ORPHA:191 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... |
ORPHA:647 |
Primary Hyperoxaluria |
|
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata |
ORPHA:416 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction |
ORPHA:505248 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity |
ORPHA:512 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Thyrotoxic Periodic Paralysis |
|
Respiratory paralysis, Abnormality of peripheral nerve conduction |
ORPHA:79102 |
Costello Syndrome |
|
Pneumothorax, Respiratory insufficiency, Vestibular schwannoma, Respiratory failure, Tracheomalacia |
OMIM:218040 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Oligohydramnios |
ORPHA:177907 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... |
ORPHA:48435 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Hypsarrhythmia |
ORPHA:2148 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis |
OMIM:188400 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Respiratory ins... |
ORPHA:273 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure, Hypsarrhythmia |
OMIM:300868 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Pul... |
ORPHA:51608 |
Niemann-Pick Disease Type C |
|
Jaundice, Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... |
ORPHA:646 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin |
OMIM:614748 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
Adnp Syndrome |
|
Respiratory distress, Aspiration |
ORPHA:404448 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased sensory nerve conduction velocity |
OMIM:615273 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Optic nerve hypoplasia, Optic atrophy, Respiratory failure, Emphysema |
ORPHA:500150 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... |
ORPHA:642 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm... |
ORPHA:96334 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Jaundice, Cough |
ORPHA:509 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... |
ORPHA:95455 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia, Upper eyelid... |
OMIM:616268 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios |
OMIM:617088 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydrops fetalis, Edema |
OMIM:212093 |
Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, EEG abnormality, Polyhydramnios |
OMIM:180849 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Hypsarrhythmia |
ORPHA:798 |
Gitelman Syndrome |
|
Pericardial effusion, Respiratory distress |
ORPHA:358 |
Doors Syndrome |
|
Respiratory distress, EEG abnormality, Polyhydramnios, Aspiration pneumonia |
ORPHA:79500 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... |
ORPHA:287 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:2255 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction |
OMIM:601992 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios |
ORPHA:3404 |
Plague |
|
Respiratory distress, Acute infectious pneumonia, Edema |
ORPHA:707 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:508488 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Polyhydramnios, Apneic episodes in infancy, Stillbirth, Hyperventila... |
OMIM:601803 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Abnormal au... |
ORPHA:2388 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress |
ORPHA:480880 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
Pmm2-Cdg |
|
Respiratory distress, Lymphedema, Pericardial effusion, Abnormal subcutaneous fat tissue distribu... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ... |
ORPHA:64 |