Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
atonal bHLH transcription factor 1
Synonyms:
Math1,  bHLHa14,  Hath1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Atoh1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atoh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atoh1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atoh1.

No publications found that use IMPC mice or data for Atoh1.

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MGI Allele Allele Type Produced
Atoh1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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