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Gene: Olig3 MGI:2149955

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Olig3 (0 diseases)
Human diseases predicted to be associated with Olig3 (435 diseases)

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	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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