Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
oligodendrocyte transcription factor 3
Synonyms:
bHLHe20,  Bhlhb7

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 Olig3 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 Olig3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Cerebellar vermis hypoplasia, Death in infancy OMIM:610992
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Loss of Purkinje cells in the cerebellar vermis, Cerebellar hypoplas... OMIM:225753
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Apnea, Central Sleep
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration OMIM:207720
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood, Cerebellar vermis hypoplasia OMIM:616081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria OMIM:300067
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea OMIM:263000
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Stillbirth, Respiratory failure OMIM:276950
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy... OMIM:207950
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension, Death in infancy, Apnea, Dyspnea, Respiratory failure,... OMIM:265120
Congenital Myopathy 14
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Cerebellar hypoplasia, Central sleep apnea, Apnea, Cerebellar atrophy, Neona... ORPHA:168486
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Atrophy/Degeneration affecting the brainstem, Death in infancy OMIM:616277
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Apnea, Cerebellar atrophy, Neonatal death OMIM:610127
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Respiratory failure, Neonatal death, Abnormal anterior ho... OMIM:611890
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Pontocerebellar Hypoplasia Type 1
Aplasia/Hypoplasia of the cerebellum, Congenital laryngeal stridor, Degeneration of anterior horn... ORPHA:2254
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Cerebellar hypoplasia, Respiratory failure, Abnormal pons morphology, ... ORPHA:370968
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... OMIM:610921
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitia... OMIM:610913
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Arnold-Chiari Malformation Type Ii
Cyanosis, Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Brain stem compressi... ORPHA:1136
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Infant Acute Respiratory Distress Syndrome
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Resp... ORPHA:2590
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi... ORPHA:101030
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... OMIM:245400
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Breath-Holding Spells
Cyanosis OMIM:607578
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Spina bifida o... OMIM:618291
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Hereditary Methemoglobinemia
Cyanosis, Cerebellar atrophy, Exertional dyspnea ORPHA:621
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... ORPHA:2257
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... ORPHA:36238
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... ORPHA:79126
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Hyperekplexia 4
Respiratory failure OMIM:618011
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress, Agenesis of corpus... OMIM:312170
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Leigh Syndrome
Respiratory insufficiency, Abnormal pattern of respiration, Focal substantia nigra T2 hyperintens... OMIM:256000
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... OMIM:616212
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Respiratory failure, Death in c... OMIM:615838
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Cerebellar cyst, Restrictive ventilatory defect, Cerebellar atrophy OMIM:606612
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia ORPHA:70578
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO ORPHA:747
Choanal Atresia
Cyanosis, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abno... ORPHA:137914
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Ventilator dependence with inability to wean, Respiratory fa... OMIM:604320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Cerebellar atrophy, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:352447
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Cerebellar edema, Myelopathy, Cervical myelopathy, Respiratory failure, Death in child... OMIM:617186
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... OMIM:605711
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure, Death in infancy, Jaundice, Neonatal respiratory ... OMIM:607625
Congenital Tracheomalacia
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneu... ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation OMIM:618233
Snakebite Envenomation
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema ORPHA:449285
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hydrocephalus, Respiratory distress, Ce... OMIM:616482
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Alg1-Cdg
Respiratory failure, Cerebellar atrophy ORPHA:79327
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Dyspnea, Amyotrophic lateral sclero... ORPHA:803
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Primary Ciliary Dyskinesia
Respiratory failure, Bronchiectasis, Productive cough, Hydrocephalus, Chronic sinusitis, Chronic ... ORPHA:244
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Tricuspid Atresia
Cyanosis ORPHA:1209
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... OMIM:615512
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Scedosporiosis
Pleural empyema, Abnormal respiratory system physiology, Sinusitis, Cough, Respiratory failure, B... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure ORPHA:99931
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Cerebellar atrophy, Cerebellar gliosis OMIM:616505
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Cerebellar atrophy, Hypopnea, Neonatal r... OMIM:618426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Cerebellar cyst, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:616538
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Cerebellar hypoplasia, Hydrocephalus, Respiratory dist... ORPHA:3309
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood, Lateral ventricle dilatation OMIM:619847
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2759
Pulmonary Capillary Hemangiomatosis
Cyanosis, Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... ORPHA:199241
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Pulmonary Arteriovenous Malformation
Cyanosis, Pulmonary arterial hypertension, Telangiectasia, Pleural empyema, Hemothorax, Hypoxemia... ORPHA:2038
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:98914
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... ORPHA:555874
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness OMIM:606071
Pulmonary Alveolar Microlithiasis
Cyanosis, Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... ORPHA:60025
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Muscular Dystrophy, Duchenne Type
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... OMIM:310200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Glutathionuria
Gray matter heterotopia OMIM:231950
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir... ORPHA:563
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Respiratory failure, Death in infancy, Apnea, Neonatal respiratory dis... OMIM:608836
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:93274
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Acrocyanosis, Eosinophilia ORPHA:3165
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea ORPHA:542323
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele OMIM:619879
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... OMIM:614643
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... ORPHA:70
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:899
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory distress, Respiratory failure, Death in childhood, Respiratory in... OMIM:220110
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal respiratory system physiology, Dy... ORPHA:90051
Leigh Syndrome
Abnormal dentate nucleus morphology, Abnormal brainstem MRI signal intensity, Focal T2 hyperinten... ORPHA:506
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hypoplasia of the pons, Cerebellar hypoplasia ORPHA:88618
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Leigh Syndrome With Cardiomyopathy
Abnormal brainstem morphology, Respiratory distress, Apnea, Central hypoventilation, Respiratory ... ORPHA:70474
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Abnormal... ORPHA:258
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysplastic corpus callosum, Lateral ventricle dilatation ORPHA:488627
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Death in infancy, Jaundice, Apnea, Hypopnea, Respiratory arrest, Neonatal death OMIM:617248
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Complete Atrioventricular Septal Defect
Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency, Sudden episodic apnea ORPHA:159
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Dyspnea ORPHA:439
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Cerebellar atrophy, Cerebellar hypoplasia OMIM:618329
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension OMIM:613845
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Cerebellar hypoplasia ORPHA:280210
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2707
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Respiratory failure, Asthma, Respiratory distress, Recurrent pne... ORPHA:209905
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Cerebellar atrophy, Pneumothorax ORPHA:445038
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Cerebellar hypoplasia ORPHA:3240
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Asthma, Acrocyanosis, Purpura, Cutis marmorata, Sinusitis, Cough, Eosi... ORPHA:183
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Cerebellar malformation, Cough, Agenesis of corpus callosum, Tachypnea ORPHA:137675
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Cerebellar atrophy OMIM:619580
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:26791
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Tachypnea ORPHA:860
Riddle Syndrome
Telangiectasia, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Conjunctival telangi... ORPHA:420741
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory failure, Respiratory failure requiri... ORPHA:308552
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:35107
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Occipital encephalocele, Polymicro... ORPHA:370959
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Cer... ORPHA:496641
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Dravet Syndrome
Cyanotic episode ORPHA:33069
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Respiratory insufficiency, Death in infancy, Apnea, Cerebellar atrophy, Respiratory fai... OMIM:252010
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased... ORPHA:99103
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hydrocephalus, Stillbirth OMIM:259720
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Aicardi-Goutieres Syndrome 1
Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Cerebellar calcifications OMIM:225750
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Joubert Syndrome
Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resis... ORPHA:99104
Arterial Tortuosity Syndrome
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Telangiectasia of the skin, Respiratory ... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in infancy, Dyspnea, Respiratory failure, Death in childhood OMIM:610505
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Urticaria ORPHA:343
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence... ORPHA:2671
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Death in infancy, Respiratory failure, Abnor... OMIM:300868
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Geleophysic Dysplasia 3
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea OMIM:617809
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Listeriosis
Abnormal brainstem MRI signal intensity, Jaundice, Respiratory distress, Miscarriage, Respiratory... ORPHA:533
Atrioventricular septal defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Telangiectasia of the skin ORPHA:679
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Telangiectasia, Pulmonary arter... OMIM:187300
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:2318
Ethylene Glycol Poisoning
Cyanosis, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Absence Of The Pulmonary Artery
Cyanosis, Pulmonary arterial hypertension, Hypocapnia, Bronchiectasis, Recurrent pneumonia, Ortho... ORPHA:980
Esophageal Atresia
Cyanosis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotracheomalacia,... ORPHA:1199
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... ORPHA:2020
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Congenital Tracheal Stenosis
Cyanosis, Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing ORPHA:141127
Poems Syndrome
Pulmonary arterial hypertension, Acrocyanosis, Pleural effusion, Restrictive ventilatory defect, ... ORPHA:2905
Tarp Syndrome
Cyanosis, Apnea, Cerebellar hypoplasia ORPHA:2886
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory distress, Ecchymosis, Pleural effusion, Epistaxis, Dyspnea, Cough, Respira... ORPHA:340
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria ORPHA:255138
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Exertional dyspnea, Respiratory distress, Orthopnea, Respiratory failu... ORPHA:365
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Bickerstaff Brainstem Encephalitis
Hypercapnia, Dyspnea, Respiratory failure, Respiratory failure requiring assisted ventilation, Pn... ORPHA:79138
Bloom Syndrome
Cutaneous photosensitivity, Telangiectasia, Rhinitis, Chronic pulmonary obstruction, Respiratory ... ORPHA:125
Nocardiosis
Pneumothorax, Productive cough, Respiratory distress, Emphysema, Pleural effusion, Dyspnea, Respi... ORPHA:31204
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Respiratory failure, Death in childhood, Tachypnea OMIM:618278
Costello Syndrome
Respiratory insufficiency, Pneumothorax, Enlarged cerebellum, Hydrocephalus, Chiari type I malfor... OMIM:218040
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Myelomeningocele, Aqueductal stenosis, Cerebellar hypoplasia, Hydrocephalus, Respirator... OMIM:306955
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Short Rib-Polydactyly Syndrome
Respiratory failure, Abnormal cerebellum morphology ORPHA:1505
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Respiratory distress, Dyspnea, Erythema, Respiratory failure, Agenesis of corpus c... ORPHA:2556
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal midbrain morphology, Centra... ORPHA:293987
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, C... OMIM:610655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia OMIM:619833
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Pulmonary arterial hypertension... OMIM:600376
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Fragile skin, Dyspnea, Stridor, Respiratory failure, Pneumonia ORPHA:79404
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Tuberous Sclerosis Complex
Respiratory failure, Noncommunicating hydrocephalus, Generalized abnormality of skin, Respiratory... ORPHA:805
Holoprosencephaly 14
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... OMIM:619895
Goodpasture Syndrome
Cyanosis, Exertional dyspnea, Crackles, Restrictive ventilatory defect, Cough, Increased DLCO, Ta... OMIM:233450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Emphysema, Cough, Respiratory failure, Tachypnea OMIM:613658
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia ORPHA:647
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Apnea ORPHA:268943
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Dermatomyositis
Respiratory insufficiency, Cutaneous photosensitivity, Pulmonary arterial hypertension, Abnormal ... ORPHA:221
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Ear-Patella-Short Stature Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2554
Niemann-Pick Disease Type C
Respiratory insufficiency, Cerebellar vermis atrophy, Aspiration pneumonia, Jaundice, Respiratory... ORPHA:646
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea, Pulmonary arterial hypertension ORPHA:99050
Aortic Arch Interruption
Cyanosis, Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Abetalipoproteinemia
Respiratory failure ORPHA:14
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Spinal dysraphism, Miscarriage, Restrictive ventilatory defect, ... ORPHA:96334
Pitt-Hopkins Syndrome
Sleep apnea, Abnormal pattern of respiration, Acrocyanosis, Hyperventilation ORPHA:2896
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Jaundice, Recurrent pneumonia, Respiratory failure, Spontaneous pneumothorax ORPHA:731
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure, Respiratory failure requiring assisted ventilatio... ORPHA:273
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cerebellar hemisphere hypoplasia, Chiari malformation, Lateral ventricle dilatation, Emphysema, R... ORPHA:500150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Spina bifida, Hydrocephalus, Stillbirth, Respiratory failure OMIM:304120
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Eisenmenger Syndrome
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, I... ORPHA:97214
Holoprosencephaly
Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencep... ORPHA:2162
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Abnormality of neuronal migration, Polymicr... ORPHA:75857
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Prominent superficial blood vessel... ORPHA:740
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa... ORPHA:468631
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia OMIM:603671
Pagod Syndrome
Meningocele, Encephalocele, Abnormality of neuronal migration, Spina bifida ORPHA:991
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Type II lissenc... OMIM:615287
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Aicardi-Goutières Syndrome
Arrhinencephaly, Prolonged neonatal jaundice, Acrocyanosis, Cutis marmorata ORPHA:51
Aicardi Syndrome
Spina bifida, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus OMIM:305450
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ... ORPHA:98889
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin, Pneumonia ORPHA:48435
Orofaciodigital Syndrome I
Gray matter heterotopia, Hydrocephalus, Myelomeningocele, Abnormal cortical gyration OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Dyspnea ORPHA:2636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respir... ORPHA:99125
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Holoprosencephaly, Polymicrogyria OMIM:618820
Vici Syndrome
Gray matter heterotopia OMIM:242840
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Abnormal cortical gyration, Hydrocephalus, Microlissencephaly, Pachygyri... OMIM:210710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress, Pulmonary arterial hypertension ORPHA:51608
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Severe hydroce... OMIM:236680
Fontaine Progeroid Syndrome
Gray matter heterotopia, Hydrocephalus, Periventricular heterotopia OMIM:612289
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Occipital encephalocele... OMIM:615948
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Smith-Lemli-Opitz Syndrome
Holoprosencephaly, Hydrocephalus, Periventricular heterotopia OMIM:270400
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Polymicrogyria ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Polymicrogyria ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Polymicrogyria ORPHA:261552

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 Olig3

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 Olig3.

No publications found that use IMPC mice or data for Olig3.

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