Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... |
OMIM:617232 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... |
OMIM:614915 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... |
OMIM:620265 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... |
ORPHA:254875 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Respiratory failure, Limb muscle weakness |
OMIM:600561 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... |
OMIM:604320 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171433 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... |
OMIM:620249 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Congenital contracture |
OMIM:225753 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi... |
OMIM:611890 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
Nemaline Myopathy 10 |
|
Death in infancy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle ... |
OMIM:616165 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficien... |
OMIM:245400 |
Hyperekplexia 4 |
|
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid... |
OMIM:606071 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased body weight |
ORPHA:890 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Congenital laryngeal stridor, Respiratory failure, Arthrogryposis multip... |
ORPHA:2254 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... |
OMIM:612999 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti... |
OMIM:610921 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... |
ORPHA:2590 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f... |
OMIM:620278 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Facial diplegia... |
OMIM:618186 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... |
ORPHA:352447 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Facial paralysis, Neonatal deat... |
OMIM:605711 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmonary ... |
OMIM:619751 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... |
ORPHA:70 |
Immunodeficiency 54 |
|
Respiratory failure, Failure to thrive, Respiratory insufficiency |
OMIM:609981 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Small for gestational age, Respiratory failure, Death in childhood, Fail... |
OMIM:618252 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
Leigh Syndrome |
|
Respiratory failure, Failure to thrive, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Failure to thrive... |
ORPHA:444013 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... |
OMIM:312170 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Rhabdomyolysis, Respiratory insufficiency, Myopathy, Respiratory failu... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough, Failure to thrive |
ORPHA:99931 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fi... |
OMIM:613845 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... |
OMIM:615512 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Failure to thrive |
ORPHA:70472 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... |
ORPHA:2020 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Failure to thrive, Lower limb amyotrophy, Abnormal morphology of musculature... |
ORPHA:280210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Failure to thrive, Tachypnea, Death in childhood |
OMIM:615838 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology, Skeletal muscle atrophy |
ORPHA:803 |
Snakebite Envenomation |
|
Epistaxis, Rhabdomyolysis, Respiratory failure, Muscle fiber necrosis, Respiratory paralysis |
ORPHA:449285 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger |
ORPHA:1194 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Left vent... |
ORPHA:563 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle |
ORPHA:98755 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Respiratory failure |
ORPHA:363400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respi... |
ORPHA:746 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Small for gestational age, Camptodactyly |
OMIM:618804 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Flexion contracture, Distal amyotrophy |
OMIM:616505 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... |
ORPHA:555874 |
Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res... |
ORPHA:26791 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Small for gestational age, Death in childhood |
OMIM:619847 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Weight loss |
ORPHA:3226 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Torticollis, Death in childhood |
OMIM:617186 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... |
OMIM:617301 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest, Failu... |
OMIM:617248 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow fle... |
OMIM:608836 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Failure to thrive, Muscular dystrophy |
ORPHA:88618 |
Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Respiratory failure, Shoulder girdle muscle weakness, Failure to ... |
ORPHA:206436 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... |
ORPHA:2912 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture, Limb hypertonia |
OMIM:620327 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Death ... |
OMIM:610505 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Failure to thrive, Respiratory insufficiency |
OMIM:618329 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... |
ORPHA:254528 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Respiratory insuffici... |
OMIM:252010 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Recurrent pneumonia,... |
ORPHA:496641 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Restrictive ventilatory defect, R... |
ORPHA:420741 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Myopathy, Respiratory failure, Failure to t... |
ORPHA:506 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Dyspnea... |
ORPHA:79138 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Weight loss |
ORPHA:679 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood, Failure to thrive |
OMIM:618278 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Facial palsy, Limb hypertonia |
OMIM:259720 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Respiratory failure |
ORPHA:158687 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emph... |
OMIM:613658 |
Bloom Syndrome |
|
Small for gestational age, Pneumonia, Chronic pulmonary obstruction, Abdominal obesity, Rhinitis,... |
ORPHA:125 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Hip contracture, Large for gestational age, Flexion contracture, Elbow flexion ... |
OMIM:300868 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma, Cachexia, Recurrent pneumonia, Respiratory failure |
ORPHA:647 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Myhre Syndrome |
|
Small for gestational age, Generalized muscle hypertrophy, Obesity, Respiratory insufficiency, Sk... |
OMIM:139210 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Abetalipoproteinemia |
|
Myopathy, Respiratory failure, Failure to thrive, Distal lower limb muscle weakness |
ORPHA:14 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Respiratory insuffic... |
ORPHA:273 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Rhabdomyolysis, Respiratory failure |
ORPHA:533 |
Joubert Syndrome 21 |
|
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea |
OMIM:615636 |
Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Macroglos... |
OMIM:218040 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... |
ORPHA:79404 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Large for gestational ... |
ORPHA:96334 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Respiratory failure, Failure to t... |
ORPHA:2556 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture... |
OMIM:619110 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Niemann-Pick Disease Type C |
|
Respiratory failure, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insufficie... |
ORPHA:646 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Elbow contracture, Respiratory insufficiency |
OMIM:304120 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Emphysema, Failure to thrive in infancy |
ORPHA:500150 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |