| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| 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 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... |
ORPHA:90117 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... |
OMIM:611890 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia, Memory ... |
ORPHA:98764 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Focal T2 hyperintense thalamic... |
OMIM:619057 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Spinocerebellar Ataxia Type 21 |
|
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Dementia, Falls, Gait imbalance, Loss of ambulation, S... |
ORPHA:240094 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir... |
ORPHA:98913 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Respiratory insufficiency due to muscle weakness,... |
ORPHA:2590 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Fatigable weakness of skeletal muscles, Respiratory insufficiency, Respiratory fail... |
ORPHA:370968 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure |
OMIM:618637 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Central apnea, Cyanosis, Dystonia |
ORPHA:71277 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Dystonia |
OMIM:616277 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Dyspnea, Abnormal respiratory system physiology, Respirator... |
ORPHA:803 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, ... |
OMIM:607454 |
| Corticobasal Syndrome |
|
Memory impairment, Dementia, Gait disturbance, Akinesia |
ORPHA:454887 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, V... |
OMIM:615330 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memory impairment, A... |
ORPHA:247234 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ... |
OMIM:604320 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Hereditary Methemoglobinemia |
|
Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia |
ORPHA:621 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Respiratory failure, Optic atrophy, Congenital laryngeal str... |
ORPHA:2254 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure, Apnea, Ventriculomegaly |
ORPHA:168486 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Stridor, Abnormal autonomic nervous system physi... |
ORPHA:102 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... |
OMIM:618186 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Dementia, Akinesia |
OMIM:300894 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia |
OMIM:304700 |
| Leigh Syndrome |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Dystonia, Abnormal pattern of resp... |
OMIM:256000 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Stridor, Abnormal autonomic nervous system physi... |
ORPHA:98933 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Tremor, Respiratory insufficiency, Abnormal autonomic nervous sy... |
ORPHA:97229 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... |
OMIM:605711 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Torsion dystonia, Blepha... |
OMIM:128100 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Respiratory failure, Dystonia, Abnormal nerve conduction velocity... |
ORPHA:98755 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Immunodeficiency 54 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency, Adrenocorticotro... |
OMIM:609981 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology, Poor wound healing |
OMIM:615548 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Tremor, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dystonia |
OMIM:618049 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:329284 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure, Tremor, Limb dystonia |
ORPHA:363400 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Intrauterine growth retardation, Opisthotonus |
OMIM:610678 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Facial palsy, Ventriculomegaly |
OMIM:606612 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Opisthotonus, Aspiration pneumonia, Cough, Abnormal post... |
ORPHA:216866 |
| Manganese Poisoning |
|
Memory impairment, Gait disturbance, Confusion, Akinesia |
ORPHA:306682 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Dementia, Akinesia |
OMIM:616840 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Tremor, Respiratory insufficiency due ... |
OMIM:615512 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
| Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Hypopitu... |
ORPHA:449285 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Stridor, Abnormal autonomic nervous system physi... |
ORPHA:227510 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia |
ORPHA:70472 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... |
ORPHA:3240 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus |
OMIM:250800 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Respiratory failure |
ORPHA:75840 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Social and occupational deterioration, Falls, Gait imbalance, Mental deterioration |
ORPHA:240071 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Perry Syndrome |
|
Frontotemporal dementia, Short stepped shuffling gait, Akinesia |
OMIM:168605 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
| Chiari Malformation Type Ii |
|
Hydrocephalus, Cyanosis, Inspiratory stridor, Opisthotonus |
OMIM:207950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tremor, Respiratory failure, Optic atrophy, Intention tremor |
OMIM:616505 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Abnormal autonomic nervous system physiology, Dystonia, Ventriculomegaly, Hyperventilation |
OMIM:617903 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
| Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood, Ventriculomegaly |
OMIM:617186 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... |
OMIM:618291 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cyanotic episode |
ORPHA:284417 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insufficiency, De... |
OMIM:610505 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Opisthotonus, Death in childhood, Lateral ventricle dilatation, Respiratory failure, Limb dystonia |
OMIM:619847 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Dementia, Ataxia, Gait disturbance |
OMIM:606693 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat... |
OMIM:617248 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Respira... |
ORPHA:244 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Optic atrophy, Respiratory failure, Ventriculomegaly |
OMIM:617301 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Cyanosis, Optic atrophy, Dystonia |
ORPHA:391428 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Ventriculomegaly |
OMIM:620166 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
| Tetanus |
|
Respiratory distress, Tremor, Tachypnea, Opisthotonus, Abnormal autonomic nervous system physiolo... |
ORPHA:3299 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure, Ventriculomegaly |
OMIM:618804 |
| Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Intrauterine growth retardation |
ORPHA:1194 |
| Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration |
ORPHA:168593 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... |
OMIM:616482 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Ventriculomegaly |
ORPHA:157941 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Intrauterine growth retardation, Exaggerated startle response, Respiratory failure |
OMIM:620327 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Fatigable... |
ORPHA:26791 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Opisthotonus, Choreoathetosis, Ventriculomegaly |
OMIM:619580 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:369873 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cough, Vestibular areflexia, Abnormal autonomic nervous system physiology, Decreased distal senso... |
OMIM:614575 |
| Aceruloplasminemia |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Memory impairment |
ORPHA:48818 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
| Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea |
OMIM:614857 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Acrocyanosis, Intention tremor |
OMIM:614407 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus |
ORPHA:335 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Titubation |
ORPHA:280210 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
| Haddad Syndrome |
|
Death in infancy, Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnorm... |
ORPHA:99803 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea |
OMIM:261680 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... |
ORPHA:98905 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:163921 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati... |
ORPHA:35069 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
| Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Cyanosis |
ORPHA:3309 |
| Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Dementia, Shuffling gait, Akinesia |
ORPHA:411602 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Fatigable weakness of skeletal muscles |
OMIM:617239 |
| Leigh Syndrome |
|
Optic atrophy, Abnormal thalamic MRI signal intensity, Choreoathetosis, Athetosis, Respiratory fa... |
ORPHA:506 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Dystonia, Titubation |
ORPHA:225147 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus |
ORPHA:445038 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... |
ORPHA:209905 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Resting tremor, Dystonia, Intention tremor |
OMIM:619725 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Respiratory failure, Stillbirth, V... |
OMIM:259720 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171430 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Elevated circulating luteinizing hormone level |
OMIM:250790 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Optic atrophy, Autonomic bladder dysfunction, Dystonia, Intention tremor |
ORPHA:447896 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Opisthotonus |
ORPHA:3304 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Respirato... |
ORPHA:496641 |
| Poliomyelitis |
|
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... |
ORPHA:2912 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Optic nerve hypoplasia, Tremor, Respirato... |
OMIM:615574 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Upper limb postural tremor, Abnormal auditory evoked potentials, Tremor,... |
ORPHA:99027 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Cyanosis, Ventriculomegaly |
ORPHA:488627 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Or... |
ORPHA:330001 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Aganglionic megacolon, Hypercapnia, Central hypoventilation, Hypoxemia, A... |
OMIM:209880 |
| Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Respiratory failure, Ventriculomegaly |
OMIM:616538 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Ventriculomegaly |
ORPHA:88618 |
| Machado-Joseph Disease |
|
Dilated fourth ventricle, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:109150 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
ORPHA:466934 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:616683 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... |
OMIM:252010 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... |
ORPHA:420741 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar muscl... |
ORPHA:2020 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Optic nerve hypoplasia, Lateral ventricle dilatation, Normal pressure hydrocephalus,... |
ORPHA:300570 |
| Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Death in childhood, Respiratory failure, Dystonia, Ventricu... |
OMIM:618278 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Abnormal posturing, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... |
ORPHA:183 |
| Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Respiratory failure, Fragile skin |
ORPHA:158687 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Postencephalitic Parkinsonism |
|
Akinesia |
ORPHA:97349 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration |
OMIM:608013 |
| Parkinson Disease, Late-Onset |
|
Tremor, Resting tremor, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:168600 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... |
OMIM:105210 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia |
OMIM:601104 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:618329 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
| Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... |
ORPHA:293987 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration |
ORPHA:31826 |
| Fabry Disease |
|
Abnormal autonomic nervous system physiology, Angiokeratoma, Airway obstruction, Angiokeratoma co... |
OMIM:301500 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Tremor, Choreoathetosis, Abnormal autonomic nervous system physiolog... |
ORPHA:2131 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest |
OMIM:619879 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Chronic lung disease, Apnea, Tachypnea, Colpocephaly, Lateral ventricl... |
ORPHA:397715 |
| Al Amyloidosis |
|
Nonproductive cough, Dyspnea, Abnormal autonomic nervous system physiology, Postural hypotension ... |
ORPHA:85443 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
| Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Rett Syndrome |
|
Abnormal pattern of respiration, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:778 |
| Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Intraute... |
ORPHA:125 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Choreoathetosis, Dementia, Gait disturbance, Mental deterioration |
OMIM:234200 |
| Alexander Disease |
|
Facial palsy, Tremor, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal aut... |
ORPHA:58 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure |
ORPHA:533 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough |
ORPHA:137675 |
| Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
| Young-Onset Parkinson Disease |
|
Tremor, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:2828 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated th... |
OMIM:613154 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis, Optic atrophy, Apnea |
ORPHA:2886 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion |
OMIM:261740 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Porphyria Variegata |
|
Cutaneous photosensitivity, Respiratory paralysis, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
OMIM:256800 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Abnormal autonomic nervous system physiology,... |
OMIM:601559 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis |
OMIM:223900 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Intrauterine growth retardation, Respiratory failure |
ORPHA:254528 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Optic nerve dysplasia |
OMIM:617296 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Asthma, Lateral ventricle dilatation, Dilated third ventricle, Vascular skin abnormality |
ORPHA:544488 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Jaundice, Respiratory insufficiency, Respiratory failure, Aspir... |
ORPHA:646 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Asthma, Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
| Parkinsonian-Pyramidal Syndrome |
|
Dystonia, Abnormal autonomic nervous system physiology, Intention tremor |
ORPHA:171695 |
| Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Lateral ventricle dilatation, Respiratory failure |
OMIM:300868 |
| Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Decreased response to growth hormone stimulat... |
ORPHA:273 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:619244 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Intrauterine growth retardation... |
OMIM:613658 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Tick-Borne Encephalitis |
|
Facial palsy, Tremor, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous syst... |
ORPHA:297 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:2554 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Dilated third ventricle, Optic atrophy, Head tremor |
ORPHA:314404 |
| Costello Syndrome |
|
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Vestibular schwannoma, Respiratory failur... |
OMIM:218040 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Gen... |
ORPHA:805 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy |
ORPHA:1764 |
| Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Lateral ventricle dilatation, Dilated third ventricle, Recurrent... |
ORPHA:464738 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Pulmonary embolism, Tremor, Abnormal autonomic nervous system physiology, Aspi... |
ORPHA:94093 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Pleural effusion, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
| Nijmegen Breakage Syndrome |
|
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia |
ORPHA:647 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Erythema, Respiratory failure |
ORPHA:2556 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Opisthotonus, Choreoathetosi... |
ORPHA:217253 |
| Wolfram Syndrome |
|
Central apnea, Optic atrophy, Abnormal autonomic nervous system physiology, Respiratory insuffici... |
ORPHA:3463 |
| Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Cyanosis, Respiratory distress |
OMIM:306955 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Myhre Syndrome |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Dpagt1-Cdg |
|
Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Lateral ventricle dilatation, Respiratory failure, Progres... |
ORPHA:500150 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Restrictive ventilatory defect, Respiratory failure, Pulmonary arterial hypertension... |
ORPHA:96334 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
| Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3427 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia, Acrocyanosis, Ventriculomegaly |
ORPHA:51 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure |
ORPHA:731 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Dementia, Allodynia |
OMIM:603041 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Choreoacanthocytosis |
|
Resting tremor, Head titubation, Blepharospasm, Lateral ventricle dilatation, Abnormal autonomic ... |
ORPHA:2388 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology, Intention tremor |
ORPHA:93256 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy |
OMIM:259900 |
| Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
| Aicardi Syndrome |
|
Optic disc coloboma, Optic atrophy, Recurrent pneumonia, Lateral ventricle dilatation, Dilated th... |
OMIM:304050 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... |
ORPHA:48435 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:2636 |
| African Trypanosomiasis |
|
Akinesia, Choreoathetosis, Gait disturbance, Difficulty walking, Delirium |
ORPHA:3385 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Abnormal autonomic nervous system physiology, Intrauterine g... |
ORPHA:3206 |
| Primary Hyperoxaluria |
|
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor |
ORPHA:416 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:139417 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... |
ORPHA:287 |
| Truncus Arteriosus |
|
Intrauterine growth retardation, Cyanosis, Tachypnea |
ORPHA:3384 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation |
ORPHA:3404 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Ventriculomegaly |
OMIM:303600 |
| Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology |
ORPHA:548 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Acrocyanosis, Apnea |
ORPHA:285 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation |
ORPHA:434179 |
