Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Cerebellar atrophy, Gait ataxia, Hearing impairment |
ORPHA:217012 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Sensorineural hearing impairmen... |
OMIM:616192 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Cerebe... |
OMIM:225753 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Cerebellar vermis hypoplasia, Respiratory insufficiency, Hearing impairment |
OMIM:616081 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Falls, Limb dysmetria, Sensorineural hearing impair... |
ORPHA:363710 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Cerebellar atrophy, Death in infancy, Hypoplasia of the pons, Cerebellar hypoplasi... |
OMIM:619303 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Low-se... |
OMIM:610127 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Sensorineural hearing impairment, Cerebellar atrophy, Brain atrophy |
OMIM:618741 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Cerebellar atrophy, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Tremor |
OMIM:615945 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Giant somatosensory evoked potentials, Intention tremor, Cerebellar vermis hy... |
OMIM:618876 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Cerebral atrophy, Hearing impairment |
OMIM:617899 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Hearing impairment, Gait ataxia, Mild he... |
OMIM:611390 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Cerebellar atrophy, Ataxia, EEG abnormality |
OMIM:614706 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormality of the pinna, ... |
OMIM:618291 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Cerebellar atrophy, Cerebral atrophy |
OMIM:609924 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Cerebellar atrophy, Apnea, Aplasia/Hypoplasia of the external ear,... |
ORPHA:168486 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Vertigo, Bradykinesia, Isometric t... |
ORPHA:101110 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Hearing impairment, Tremor, Dysdiadoch... |
OMIM:617145 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis atrophy, Cerebellar vermis h... |
OMIM:117360 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Severe sensorineural hearing impairment |
OMIM:604213 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Head tremor, C... |
OMIM:614860 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:616531 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea, Cerebellar dysplasia |
OMIM:616490 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global ... |
ORPHA:52368 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... |
ORPHA:90117 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ataxia, EEG abnormality, Cere... |
OMIM:600143 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Restrictive v... |
OMIM:614399 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Dysmetria, Hearing impairment, Tremor, Ataxia, Cerebral atrophy |
OMIM:618170 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure |
OMIM:263000 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Cerebellar vermis atrop... |
ORPHA:284332 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Respiratory insufficiency, Facial palsy, Cerebellar vermis hypoplasia, ... |
ORPHA:370968 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Limb... |
ORPHA:276193 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Behr Syndrome |
|
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Facial palsy |
OMIM:615348 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, Bradykinesia, L... |
ORPHA:98762 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... |
OMIM:125250 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait |
OMIM:616948 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Respiratory distress, Respiratory failure, Low-set ears, Dyspnea |
ORPHA:1832 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... |
OMIM:601455 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Hearing impairment, Tremor, Progressive cerebellar ataxia |
ORPHA:139485 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, He... |
OMIM:615157 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Tinnitus, Dysmetria, Ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:617691 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Tachypnea, Apnea, Superior cerebellar dysplasia |
OMIM:617622 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anter... |
OMIM:611890 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Difficulty walking |
OMIM:613908 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Cerebellar atrophy, Limb dysmetria, Hearing impairment, Progressive cerebellar ata... |
OMIM:605259 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Axonal degeneration... |
OMIM:601596 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Cerebellar atrophy, Optic disc pallor, Dysmetria, Hearing impairment, Ataxia |
OMIM:617954 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Hearing impairment |
ORPHA:438134 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Dysmetria, Hearing impairment, Head tremor, Titubation, Gait ataxia |
ORPHA:98771 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... |
OMIM:265120 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia, Neonatal respiratory distress |
OMIM:250951 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Optic atrophy, Cerebellar atrophy, Hearing impairment, Tremor, Ataxia |
OMIM:612438 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis |
OMIM:276950 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the ventr... |
OMIM:607596 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... |
ORPHA:1302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Neonatal respiratory distress, Hearing impairment, Respiratory failure, Aspiration... |
OMIM:619057 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Abnormality of the pinna, Respiratory insufficiency |
OMIM:228940 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Tremor, Unsteady gait |
OMIM:614867 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Inability to walk, Cerebellar atrophy, Cerebral atrophy, Hearing impairment |
OMIM:616721 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Limb ataxia, Gait... |
OMIM:610245 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... |
ORPHA:91359 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Intention trem... |
OMIM:612674 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hearing impairment, Truncal ata... |
OMIM:613612 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Cerebellar atrophy, Dysmetria, Hand ... |
OMIM:302800 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea |
ORPHA:2004 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:617519 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Infantile sensorineural hearing impairment, Respiratory insufficiency, Severe sensorineural heari... |
ORPHA:254875 |
Familial Paroxysmal Ataxia |
|
Dystonia, Torticollis, Vertigo, Cerebellar vermis atrophy, Ataxia, Tinnitus |
ORPHA:97 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Cerebellar atrophy |
ORPHA:352447 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Apnea, Sensorineural hearing impairment, Death in infancy |
OMIM:617248 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Broad-based gait |
OMIM:618098 |
Developmental And Epileptic Encephalopathy 47 |
|
Gait disturbance, Cerebellar atrophy, Optic disc pallor, Hypsarrhythmia, Multifocal epileptiform ... |
OMIM:617166 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Bradykinesia, Tremor, Cerebral atrophy, Abnormal... |
OMIM:300894 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency |
OMIM:273730 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Intention tremor, Cerebellar vermis atrophy, Broad-based gait, Gait ataxia, D... |
ORPHA:512260 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Vestibular areflexia, Ataxia, Limb ataxia, Gait ataxia, Abnormal autonomic ne... |
OMIM:614575 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Apneic episodes in infancy, Agenesis of cerebellar vermis, Posteriorly... |
ORPHA:163961 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Sensorineural hearing impairment, Cerebral atrophy |
OMIM:300475 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atrophy of the... |
ORPHA:99027 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Respiratory insufficiency, Cerebellar dysplasia, Hypo... |
OMIM:613153 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Atrophy of the spinal cord, Bil... |
ORPHA:445062 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Cerebellar atrophy, Abnormality of somatosensory evoked potentials, Loss of Purkin... |
ORPHA:98755 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Sensorineural h... |
ORPHA:2590 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Conductive hearing impairment, Communicating hydrocephalus |
ORPHA:1861 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Respiratory insufficiency, Degeneration of anterior horn cells |
OMIM:600333 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... |
ORPHA:723 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Dystonia, Cerebellar atrophy, Hearing impairment, EEG abnormality, Cerebral atrophy |
OMIM:618247 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Facial palsy, Hydrocephalus, Respiratory failure, Respiratory fail... |
OMIM:310400 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Cerebellar atrophy, Cerebral atrophy, Hearing impairment |
OMIM:614482 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment, Progressive ce... |
ORPHA:95433 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Heari... |
OMIM:245400 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Respiratory insufficiency, Hydrocephalus, Death in childhood, Low-set ears |
OMIM:610333 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis, Cerebellar atrophy |
ORPHA:621 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Facial palsy, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vi... |
ORPHA:98913 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in infancy, Cerebellar edema |
OMIM:617186 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Dysmetria, Cerebellar vermis atrophy, Ataxia, Dysdiadochok... |
OMIM:616204 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:610910 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... |
ORPHA:264675 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Alg1-Cdg |
|
Respiratory failure, Cerebellar atrophy |
ORPHA:79327 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, De... |
OMIM:256600 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Leukodystrophy, Hypomyelinating, 15 |
|
Athetosis, Optic atrophy, Dystonia, Cerebellar atrophy, Intention tremor, Sensorineural hearing i... |
OMIM:617951 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Progressive cerebellar a... |
ORPHA:284324 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia... |
ORPHA:3240 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Inspiratory stridor |
OMIM:207950 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Optic atrophy, Cerebellar atrophy, Cerebellar gliosis |
OMIM:616505 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Spinocerebellar Ataxia 6 |
|
Progressive cerebellar ataxia, Cerebellar atrophy, Abnormal vestibulo-ocular reflex |
OMIM:183086 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormality of the medulla oblongata, Gait disturbance, Ataxia, EEG abn... |
ORPHA:206448 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Abnormality ... |
OMIM:617751 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Optic atrophy, Central hypoventilation, Apnea |
OMIM:618233 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
Peroxisome Biogenesis Disorder 6B |
|
Sensorineural hearing impairment, Ataxia, Cerebellar atrophy, Intention tremor |
OMIM:614871 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Hearing impairment, Impaired tandem... |
OMIM:300623 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Low-set ears, Facial diplegia, Facial palsy |
ORPHA:171433 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Prolon... |
ORPHA:206443 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:615330 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hydrocephalus |
OMIM:109120 |
Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Cerebellar atrophy, Optic disc pallor, Torticollis, Bradykinesia, Hearing impairme... |
ORPHA:98768 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Inspiratory stridor, Tachypnea, Decreased nerve conduction velocity, Ventilator dependence with i... |
OMIM:604320 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Conductive hearing impairment, Neonatal respiratory distress, Bronchi... |
ORPHA:244 |
Charcot-Marie-Tooth Disease Type 1F |
|
Steppage gait, Cervical spinal cord atrophy, Optic nerve hypoplasia, Hand tremor, Absent brainste... |
ORPHA:101085 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation |
OMIM:619405 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Abnormality of the medulla oblongata, Myelomeningocele, Pneumonia, Apnea, Cyanosis, ... |
ORPHA:1136 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Cerebellar vermis hypoplasia, Neonatal breathing dysregulation... |
OMIM:608629 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal antitragus morphology, Overfolded helix, Posteriorly rotated ears, Respiratory distress,... |
ORPHA:2759 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Leigh Syndrome |
|
Optic atrophy, Respiratory insufficiency, Abnormal pattern of respiration, Sensorineural hearing ... |
OMIM:256000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Cerebellar vermis hypoplasia, Cerebellar cyst, Hydrocephalus |
OMIM:616538 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Posteriorly rotated ears, Respiratory distress, Cyanosis, Hydroc... |
ORPHA:3309 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Hydrocepha... |
OMIM:615181 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:613954 |
Acquired Methemoglobinemia |
|
Hypoxemia, Vertigo, Respiratory distress, Cyanosis, Dyspnea |
ORPHA:464453 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Head tremor, Limb tremor, Focal ... |
ORPHA:420492 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Stillbirth, Hydrocephalus, Respiratory failure |
OMIM:259720 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... |
OMIM:606071 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Optic atrophy, Cerebellar atrophy, Ataxia |
OMIM:604121 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea |
ORPHA:70578 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Cerebellar atrophy, Respiratory insufficiency, Sensorineural hearing impairment, C... |
OMIM:618329 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
ORPHA:747 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Cholesteatoma, Tachypnea, Cough, Re... |
OMIM:610978 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Obstructive sleep apnea, Central sleep apnea |
ORPHA:70472 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... |
OMIM:252320 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Prominent antihelix, Macrotia, Cerebellar hypoplasia |
OMIM:614407 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... |
ORPHA:137914 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Cerebellar atrophy, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Tachypnea, Apnea, Low-set, posteriorly rotated ears, Cerebellar vermis hyp... |
ORPHA:2318 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Resp... |
ORPHA:803 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Optic disc pallor |
OMIM:615838 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Cerebellar atrophy, Hearing impairment |
OMIM:619580 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress |
OMIM:616867 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Cyanotic episode |
ORPHA:284417 |
Snakebite Envenomation |
|
Ecchymosis, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure |
ORPHA:449285 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Low-set ears, Death in infancy |
ORPHA:1194 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Cyanosis, Apnea |
OMIM:261680 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Conductive hearing impairment, Sensorineural hearing impairment, Respiratory... |
OMIM:135100 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Cerebellar hypoplasia |
ORPHA:280210 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Vertigo, Sensorineural hearing impairment, Respiratory failure, Bruising su... |
ORPHA:3226 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Joubert Syndrome |
|
Aganglionic megacolon, Abnormal pattern of respiration, Apnea, Episodic tachypnea, Cerebellar ver... |
ORPHA:475 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Cyanosis, Decreased DLCO, Hemo... |
ORPHA:199241 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... |
ORPHA:449280 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Cerebellar atrophy |
ORPHA:445038 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Arthrogryposis, Distal, Type 2A |
|
Spina bifida occulta, Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Joubert Syndrome 7 |
|
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:611560 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arteri... |
ORPHA:258 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic neuropathy, Optic disc pallor, Cerebellar atrophy, Respiratory insufficiency, Death in infa... |
OMIM:252010 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked ... |
ORPHA:909 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Macrotia, Recurrent pneumonia, Respiratory failure, Respirator... |
ORPHA:496641 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea |
ORPHA:99931 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neuronal loss in... |
ORPHA:314404 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Tachypnea, Cyanosis, Respiratory failure, Respiratory failure requiring assisted venti... |
ORPHA:555874 |
Joubert Syndrome 2 |
|
Central apnea, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Optic disc col... |
OMIM:608091 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Low-set ears |
OMIM:617895 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Hypoplasia of the pons, Cerebellar hypoplasia |
ORPHA:88618 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress, Optic atrophy, Hearing impairment |
ORPHA:148 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pleural empyema, Cy... |
ORPHA:2038 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Low-set ears, Underdeveloped tragus, Angulated antihelix |
OMIM:618804 |
Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Diffuse cerebellar atrophy, Apnea, Sensorineural hearing impairment |
OMIM:253260 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Hypoventilation, Respiratory insufficiency |
OMIM:310200 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion |
ORPHA:542323 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Facia... |
ORPHA:70 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea, Optic atrophy |
ORPHA:2707 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis, Hearing impairment |
ORPHA:896 |
Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... |
ORPHA:563 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dandy-Walker malformation, Recurrent aspiration pneumonia, Dysgenesis of the cerebel... |
ORPHA:397715 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Tachypnea, Cough, Cyanosis, Cerebellar malformation, Hydrocephalus |
ORPHA:137675 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Low-set ears, Facial diplegia, Facial palsy |
ORPHA:171430 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Overfolded helix, Apnea, Posteriorly rotated ears, Respiratory distres... |
OMIM:608836 |
Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Gait disturbance, Macrotia, Absent brainstem auditory responses, Hearing impairmen... |
ORPHA:90321 |
Tarp Syndrome |
|
Optic atrophy, Apnea, Low-set, posteriorly rotated ears, Hearing impairment, Prominent antihelix,... |
ORPHA:2886 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Otopalatodigital Syndrome, Type Ii |
|
Conductive hearing impairment, Respiratory insufficiency, Posteriorly rotated ears, Stillbirth, H... |
OMIM:304120 |
Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis, Abnormality of cartilage of external ear |
ORPHA:3426 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... |
ORPHA:1329 |
Leigh Syndrome |
|
Optic atrophy, Cerebellar atrophy, Abnormal pattern of respiration, Macrotia, Sensorineural heari... |
ORPHA:506 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Leigh Syndrome With Cardiomyopathy |
|
Optic atrophy, Apnea, Hearing impairment, Respiratory distress, Central hypoventilation, Respirat... |
ORPHA:70474 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Cyanosis, Hearing impairment |
ORPHA:391428 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Petechiae, Cyanosis, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis... |
OMIM:213300 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:613845 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Acrocyanosis, Purpura, Prolonged neonatal jaundice, Cerebellar calcifications |
OMIM:225750 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Hearing impairment, ... |
ORPHA:308552 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormality of the pinna, Respiratory failure, Cardiorespiratory arrest, Restrictive ventilatory ... |
ORPHA:26791 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Cyanosis, Respiratory insufficiency |
ORPHA:159 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Optic neuropathy, Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:610505 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea, Hypoxemia, Cyanosis |
ORPHA:860 |
Infantile Krabbe Disease |
|
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... |
ORPHA:206436 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Low-set ears, Apnea, Optic atrophy |
OMIM:617301 |
Riddle Syndrome |
|
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Erythema, Respiratory ... |
ORPHA:420741 |
Cockayne Syndrome A |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Normal pressure hydrocephal... |
OMIM:216400 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Bilateral external ear deformity, Fragile skin, Abnormal helix morphology |
ORPHA:158687 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Low-set ears, Pulmonary arterial hypertension, Microtia |
OMIM:613320 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Pneumonia, Facial diplegia, Facial palsy, Respiratory fai... |
ORPHA:98905 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Protruding ear, Recurrent otitis media, Macrotia |
ORPHA:3304 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Renal Dysplasia-Limb Defects Syndrome |
|
Pneumothorax, Neonatal death, Abnormality of the pinna, Respiratory distress, Respiratory failure... |
OMIM:266910 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Normal pressure hydrocephalus, Abnormality of... |
OMIM:133540 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set ears, Low-set, posteriorly rotated ears, Episodic tachypnea |
ORPHA:2872 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Atrial Septal Defect, Ostium Primum Type |
|
Abnormal respiratory system physiology, Tachypnea, Pulmonary arterial hypertension, Exertional dy... |
ORPHA:99106 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Hypercap... |
ORPHA:79138 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Joubert Syndrome 5 |
|
Central apnea, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Episod... |
OMIM:610188 |
Niemann-Pick Disease, Type C2 |
|
Respiratory failure, Prolonged neonatal jaundice, Respiratory insufficiency |
OMIM:607625 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Sensorineural hearing impairment,... |
ORPHA:209905 |
Tetanus |
|
Tachypnea, Respiratory distress, Autonomic bladder dysfunction, Abnormal autonomic nervous system... |
ORPHA:3299 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea |
ORPHA:3095 |
Costello Syndrome |
|
Respiratory insufficiency, Obstructive sleep apnea, Vestibular Schwannoma, Pneumothorax, Enlarged... |
OMIM:218040 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Facial palsy, Cyanosis |
ORPHA:31826 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea, Death in infancy |
OMIM:201475 |
Arima Syndrome |
|
Occipital meningocele, Agenesis of cerebellar vermis, Tachypnea, Dilated fourth ventricle, Aplasi... |
OMIM:243910 |
Arterial Tortuosity Syndrome |
|
Macrotia, Telangiectasia of the skin, Respiratory distress, Prematurely aged appearance, Cardiore... |
ORPHA:3342 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... |
ORPHA:99103 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Cough, Acrocyanosis, Urticaria, Cutis marmorata, Asthma, Pu... |
ORPHA:183 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
Trisomy 10P |
|
Dandy-Walker malformation, Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Poster... |
ORPHA:171929 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Telangiectasia of the skin, Pleural effusion, Vertigo |
ORPHA:679 |
Pyruvate Dehydrogenase Deficiency |
|
Tachypnea, Dyspnea |
ORPHA:765 |
Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Pulmonary arterial hypertension |
OMIM:614857 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Mend Syndrome |
|
Dandy-Walker malformation, Abnormal auditory evoked potentials, Hyperactivity, Hydrocephalus, Low... |
ORPHA:401973 |
Congenital Tracheal Stenosis |
|
Wheezing, Abnormal earlobe morphology, Upper airway obstruction, Respiratory distress, Cyanosis, ... |
ORPHA:141127 |
Poliomyelitis |
|
Respiratory failure, Respiratory failure requiring assisted ventilation, Abnormal motor nerve con... |
ORPHA:2912 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Dystonia |
ORPHA:79330 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea |
OMIM:220111 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Dyspnea, Increased pulm... |
ORPHA:99104 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Hearing impa... |
ORPHA:1199 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure, Abnormal cerebellum morphology |
ORPHA:1505 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Hearing impairment, ... |
ORPHA:365 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Urticaria, Erythema, Purpura |
ORPHA:343 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Hearing impairment, Cerebellar vermis atrophy, Respiratory failure, As... |
ORPHA:646 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Neonatal respiratory distress, Tachypnea, Optic nerve hypoplasia, Asthma, Mixed he... |
ORPHA:79345 |
Myasthenia Gravis |
|
Acrocyanosis, Dyspnea, Hearing impairment |
ORPHA:589 |
Ear-Patella-Short Stature Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Hearing impairment, Anotia, Res... |
ORPHA:2554 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Cleft earlobe, Abnormal earlobe morphology, Erythema, Hearing impairment, Respiratory distress, H... |
ORPHA:2556 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Bloom Syndrome |
|
Telangiectasia, Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Rhinitis, O... |
ORPHA:125 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea, Telangiectasia, Cutis marmorata, Erythema |
OMIM:615934 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cyanosis |
ORPHA:488627 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Tachypnea, Episodic tachypnea, Respiratory distress, Jaundice |
ORPHA:26793 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... |
ORPHA:2020 |
Unilateral Polymicrogyria |
|
Infantile sensorineural hearing impairment, Giant somatosensory evoked potentials, Epistaxis, Apn... |
ORPHA:268943 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon |
OMIM:601374 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Cyanosis, Recurrent pneumonia, Ortho... |
ORPHA:980 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Hemorrhagic Fever-Renal Syndrome |
|
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Respiratory distress, Respiratory failure, Dy... |
ORPHA:340 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... |
ORPHA:31204 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Macrotia, Hearing abnormality, Recurrent pneumonia, Respiratory failure |
ORPHA:647 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Sensorineural hearing impairment, Cyanosis |
ORPHA:2326 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Sensorineural hearing impairment, Central hypoventilation, Cyanosis, Hyp... |
ORPHA:293987 |
Coronary Arterial Fistula |
|
Tachypnea, Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea |
ORPHA:2041 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Listeriosis |
|
Pneumonia, Hearing impairment, Respiratory distress, Respiratory failure, Jaundice |
ORPHA:533 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Low-set ears |
OMIM:306955 |
Tuberous Sclerosis Complex |
|
Respiratory failure, Respiratory distress, Noncommunicating hydrocephalus, Generalized abnormalit... |
ORPHA:805 |
Orofaciodigital Syndrome Type 6 |
|
Conductive hearing impairment, Apnea, Low-set, posteriorly rotated ears, Episodic tachypnea, Cere... |
ORPHA:2754 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hypoxemia, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Spontaneous, recurrent epistaxis, Pu... |
OMIM:187300 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Cyanosis, Death in infancy |
OMIM:617478 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Hearing impairment |
ORPHA:349 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea, Thickened heli... |
ORPHA:2896 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Rh Deficiency Syndrome |
|
Tachypnea, Hypoxemia, Jaundice |
ORPHA:71275 |
Goodpasture Syndrome |
|
Crackles, Tachypnea, Cough, Exertional dyspnea, Cyanosis, Increased DLCO, Restrictive ventilatory... |
OMIM:233450 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Tongue telangiectasia, N... |
OMIM:610655 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Fragile skin, Respiratory failure, Dyspnea |
ORPHA:79404 |
Serotonin Syndrome |
|
Tachypnea, Abnormality of the autonomic nervous system |
ORPHA:43116 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Respiratory distress |
ORPHA:36234 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration, Cerebellar gliosis |
ORPHA:3008 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Tachypnea, Cough, Respiratory failure, Emphysema |
OMIM:613658 |
Myhre Syndrome |
|
Respiratory insufficiency, Hearing impairment, Microtia, Respiratory failure, Low-set ears |
OMIM:139210 |
Cholera |
|
Tachypnea, Hyperventilation, Aspiration pneumonia, Palmoplantar cutis laxa |
ORPHA:173 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Chiari malformation, Cerebellar hemisphere hypoplasia, Optic nerve hypoplasia, Hea... |
ORPHA:500150 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure, Low-set ears... |
ORPHA:731 |
Aortic Arch Interruption |
|
Tachypnea, Exertional dyspnea, Cyanosis, Respiratory distress |
ORPHA:2299 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Jaundice |
ORPHA:20 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Fingerpad telangiectases, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Conj... |
OMIM:600376 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Cough |
ORPHA:134 |
Hemangiomatosis, Cutaneous, With Associated Features |
|
Acrocyanosis |
OMIM:234800 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Posteriorly rotated ears, Respiratory failure, Microtia, Restric... |
ORPHA:96334 |
Hutchinson-Gilford Progeria Syndrome |
|
Conductive hearing impairment, Prominent ear helix, Pulmonary arterial hypertension, Upper airway... |
ORPHA:740 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Obstructive sleep apnea, Facial diplegia, Respiratory insufficiency du... |
ORPHA:273 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Hyperparathyroidism, Neonatal Severe |
|
Tachypnea, Dyspnea |
OMIM:239200 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation |
ORPHA:90068 |
Eisenmenger Syndrome |
|
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Vertigo, Exertional dyspnea, Respiratory di... |
ORPHA:97214 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension |
ORPHA:99050 |
Familial Dysautonomia |
|
Orthostatic hypotension, Optic atrophy, Acrocyanosis |
ORPHA:1764 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Dermatomyositis |
|
Cutaneous photosensitivity, Respiratory insufficiency, Pulmonary arterial hypertension, Telangiec... |
ORPHA:221 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Abnormal tragus morphology, Respiratory failure, Low-set ears, Dyspnea |
ORPHA:2636 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Optic atrophy, Optic neuropathy, Cutis marmorata |
OMIM:259900 |
Aicardi-Goutières Syndrome |
|
Arrhinencephaly, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice, Low-set ears |
ORPHA:51 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Postinfectious Vasculitis |
|
Pneumonia, Palpable purpura, Vasculitis in the skin, Acrocyanosis, Cutis marmorata, Abnormality o... |
ORPHA:48435 |
Ulbright-Hodes Syndrome |
|
Bilateral external ear deformity, Pneumothorax, Respiratory distress, Respiratory failure, Low-se... |
ORPHA:3404 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, Tachypnea, Vertigo, Flushing, Hypocapnia |
ORPHA:466650 |
Generalized Arterial Calcification Of Infancy |
|
Conductive hearing impairment, Calcification of the auricular cartilage, Pulmonary arterial hyper... |
ORPHA:51608 |
Primary Hyperoxaluria |
|
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic disc pallor |
ORPHA:416 |
Truncus Arteriosus |
|
Tachypnea, Cyanosis |
ORPHA:3384 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Apneic episodes in infancy, Paroxysmal dyspnea, Pulmonary arterial hypertension, Exertional dyspn... |
ORPHA:99125 |
Scorpion Envenomation |
|
Tachypnea, Abnormal nasal mucus secretion, Erythema, Purpura |
ORPHA:466677 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Conductive hearing impairment, Protruding ear, Apnea |
ORPHA:2751 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Orthostatic hypotension, Acrocyanosis, Prematurely aged appearance, Fragile skin, Poo... |
ORPHA:287 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea, Vertigo, Decreased nerve conduction velocity |
ORPHA:285 |
Coffin-Lowry Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Cutis marmorata, Acrocyanosis |
OMIM:303600 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |