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
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Death in infancy, Hypoplasia of the pons, Cerebe... OMIM:225753
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Cerebellar vermis hypoplasia, Death in childhood OMIM:616081
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:300067
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Periventricular lamin... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular 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
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Chudley-Mccullough Syndrome
Hydrocephalus, Polymicrogyria, Gray matter heterotopia OMIM:604213
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Hydrocephalus, Respiratory failure OMIM:276950
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Death in infancy OMIM:610992
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... OMIM:611890
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Band Heterotopia
Hydrocephalus, Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:600348
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Atrophy/Degeneration affecting the brainstem, Death in infancy OMIM:616277
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar hyp... ORPHA:370968
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death, Cerebellar atrophy OMIM:610127
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory failure, Neon... ORPHA:168486
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida ORPHA:945
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Pontocerebellar Hypoplasia Type 1
Cerebellar cyst, Hypoplasia of the pons, Degeneration of anterior horn cells, Respiratory failure... ORPHA:2254
Perching Syndrome
Cyanosis OMIM:617055
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Immunodeficiency 95
Respiratory failure OMIM:619773
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cyanosis OMIM:263000
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuro... ORPHA:2590
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress OMIM:619057
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Breath-Holding Spells
Cyanosis OMIM:607578
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:90117
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress, Cyanosis OMIM:265120
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res... ORPHA:254875
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakn... OMIM:618291
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Hyperekplexia 4
Respiratory failure OMIM:618011
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Respiratory failure, Purpura, Vasculitis in the skin OMIM:620296
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Abnormal brainstem MRI signal intensity, Cyanosis ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, ... ORPHA:98755
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Agenesis of corpus callosum OMIM:312170
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lissencephaly ORPHA:300573
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Infant Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Cyanosis ORPHA:70587
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death, Cerebellar atrophy OMIM:618186
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity OMIM:256000
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode, Lateral ventricle dilatation ORPHA:284417
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress OMIM:616867
Hereditary Methemoglobinemia
Cyanosis, Cerebellar atrophy ORPHA:621
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Cerebellar atrophy, Atrophy/Degeneration affecting the b... OMIM:615838
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Cerebellar atrophy ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Cerebellar cyst, Cerebellar atrophy OMIM:606612
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Alg1-Cdg
Respiratory failure, Cerebellar atrophy ORPHA:79327
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Cyanosis ORPHA:98913
Ethylmalonic Encephalopathy
Petechiae, Abnormal brainstem MRI signal intensity, Acrocyanosis ORPHA:51188
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Asbestos Intoxication
Respiratory failure, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Hypoxemia, Respiratory i... ORPHA:723
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Death in childhood, Cerebellar edema, Respiratory failure, Myelopathy OMIM:617186
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Tricuspid Atresia
Cyanosis ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Hypoxemia, Neonatal death, Respiratory failure, Neonatal respiratory distress, ... OMIM:610921
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Respiratory failure, Cerebellar cyst, Hydrocephalus OMIM:616538
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Cerebellar gliosis, Cerebellar atrophy OMIM:616505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Snakebite Envenomation
Angioedema, Respiratory failure, Ecchymosis, Erythema ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Abnormal blood gas level ORPHA:70578
Ciliary Dyskinesia, Primary, 5
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci... OMIM:608647
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Jaundice OMIM:250940
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Respiratory failure, Ventilator dependence with inability to... OMIM:604320
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood, Lateral ventricle dilatation OMIM:619847
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy, Prolonged neonatal j... OMIM:615512
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly ORPHA:89844
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Respiratory failure, Palmoplantar cutis laxa, Neonatal death OMIM:616482
Primary Pulmonary Hypoplasia
Hypoxemia, Neonatal respiratory distress, Cyanosis ORPHA:2257
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebellar hypopl... OMIM:620327
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Acute Interstitial Pneumonia
Respiratory failure, Hypoxemia, Cyanosis ORPHA:79126
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Acute Lung Injury
Respiratory failure, Hypoxemia ORPHA:178320
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Glutathionuria
Gray matter heterotopia OMIM:231950
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Hypoxemia, Cyanosis ORPHA:555874
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis ORPHA:3165
Tetrasomy 5P
Hydrocephalus, Cerebellar hypoplasia, Cyanosis ORPHA:3309
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Thanatophoric Dysplasia Type 2
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Encephalocele ORPHA:93274
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heteroto... OMIM:614643
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Acrocyanosis OMIM:614407
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Congenital Heart Block
Cyanosis ORPHA:60041
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Avian Influenza
Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure, Cerebellar hypoplasia ORPHA:3240
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Cyanosis, Lateral ventricle dilatation ORPHA:488627
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Death in infancy, Agenesis of corpus callosum, Respiratory failure, Ne... OMIM:608836
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia ORPHA:88618
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure, Hypoxemia, Cyanosis OMIM:610913
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Holoprosencephaly, Cardiorespiratory arrest OMIM:619879
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Primary Ciliary Dyskinesia
Hydrocephalus, Respiratory failure, Neonatal respiratory distress ORPHA:244
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Abnormal dentate nucleus morphology, Cerebellar atrophy,... ORPHA:506
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Cerebellar hypoplasia ORPHA:280210
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Cerebellar atrophy, Cerebellar hypoplasia OMIM:618329
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Walker-Warburg Syndrome
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:899
Staphylococcal Necrotizing Pneumonia
Respiratory failure, Hypoxemia ORPHA:36238
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Cerebellar atrophy, Death in infancy, Neonatal respiratory distress, Cyanosis OMIM:618426
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia ORPHA:542323
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Dravet Syndrome
Cyanotic episode ORPHA:33069
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:2211
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Gray matter hetero... ORPHA:370959
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis ORPHA:159
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Amyotrophic Lateral Sclerosis
Respiratory failure, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure OMIM:613845
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Cerebellar atrophy ORPHA:445038
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Respiratory arrest, Cy... ORPHA:590
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood OMIM:220110
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Respiratory arrest, Cy... ORPHA:98914
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Resp... ORPHA:258
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Cerebellar calcifications, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Proximal Spinal Muscular Atrophy
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakn... ORPHA:70
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Simplified gyral pattern, Li... OMIM:615219
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cerebellar atrophy, Death in infancy, Respiratory failure, Cyanosis OMIM:252010
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Respiratory failure, Stillbirth OMIM:259720
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Cerebellar atrophy ORPHA:496641
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Elongated superior cerebellar peduncle, Respiratory failu... OMIM:615636
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Cerebellar atrophy OMIM:619580
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Respiratory arrest, Neonatal death, Respiratory failure OMIM:617248
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:35107
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Encephalocele ORPHA:475
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Respiratory insufficiency, Urticaria, Cutis marmorata, Acrocyanosis, Eosinophilia ORPHA:183
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Scedosporiosis
Respiratory failure ORPHA:449280
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis OMIM:617239
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Histiocytoid Cardiomyopathy
Hydrocephalus, Cerebellar malformation, Cyanosis, Agenesis of corpus callosum ORPHA:137675
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory failure, Death in childhood, Death in infancy OMIM:620278
Brain-Lung-Thyroid Syndrome
Respiratory failure, Neonatal respiratory distress, Agenesis of corpus callosum ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy OMIM:610505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Death in infancy, Lateral ventricle dilatation, Cerebellar hypoplasia, ... OMIM:300868
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Mercury Poisoning
Respiratory failure ORPHA:330021
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Hypoxemia, Respiratory failure, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Sepsis In Premature Infants
Petechiae, Purpura, Jaundice, Cyanosis ORPHA:90051
Choanal Atresia
Cyanosis ORPHA:137914
Arterial Tortuosity Syndrome
Prematurely aged appearance, Respiratory failure, Telangiectasia of the skin, Cardiorespiratory a... ORPHA:3342
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration, Encephalocele ORPHA:2318
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Spina bifida, Abnormality of neuronal migration, Pach... ORPHA:2671
Riddle Syndrome
Neonatal asphyxia, Conjunctival telangiectasia, Respiratory failure, Erythema, Telangiectasia ORPHA:420741
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:157
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Multiple Mitochondrial Dysfunctions Syndrome 7
Respiratory failure requiring assisted ventilation, Cyanosis OMIM:620423
Listeriosis
Respiratory failure, Miscarriage, Abnormal brainstem MRI signal intensity, Jaundice ORPHA:533
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Malignant Atrophic Papulosis
Respiratory failure, Telangiectasia of the skin ORPHA:679
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria ORPHA:255138
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:617822
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hypercapnia, In... ORPHA:2020
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:228308
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Cyanosis OMIM:261740
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia, Cyanosis OMIM:306955
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia OMIM:619833
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Bloom Syndrome
Respiratory failure, Cutaneous photosensitivity, Telangiectasia ORPHA:125
Poems Syndrome
Plethora, Respiratory insufficiency due to muscle weakness, Acrocyanosis ORPHA:2905
Congenital Tracheomalacia
Respiratory insufficiency, Neonatal respiratory distress, Cyanosis ORPHA:95430
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Respiratory failure, Erythema, Agenesis of corpus callosum ORPHA:2556
Tarp Syndrome
Cerebellar hypoplasia, Cyanosis ORPHA:2886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Hypercapnia ORPHA:79138
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:261236
Costello Syndrome
Enlarged cerebellum, Chiari type I malformation, Respiratory insufficiency, Hydrocephalus, Respir... OMIM:218040
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Abnormality of neuronal migration ORPHA:1454
Holoprosencephaly 14
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Gray matter heterotopia, Holoprosen... OMIM:619895
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Gray matter heterotopia OMIM:619775
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory failure, Noncommunicating hydrocephalus ORPHA:805
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:247200
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:365
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity ORPHA:647
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Cardiorespiratory arrest, Abnormal midbrain morphology ORPHA:293987
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Abetalipoproteinemia
Respiratory failure ORPHA:14
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Niemann-Pick Disease Type C
Respiratory insufficiency, Respiratory failure, Jaundice, Cerebellar vermis atrophy ORPHA:646
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Dermatomyositis
Facial erythema, V-sign, Cutaneous photosensitivity, Respiratory insufficiency, Abnormal eosinoph... ORPHA:221
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Myasthenia Gravis
Acrocyanosis ORPHA:589
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Cerebellar hemisphere hypoplasia, Lateral ventricle dilatation, Chiar... ORPHA:500150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Lip telangiectasia, Miscarriage, Nasal mucosa tel... OMIM:187300
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Respiratory failure, Spinal dysraphism, Miscarriage ORPHA:96334
6Q Terminal Deletion Syndrome
Polymicrogyria, Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heter... ORPHA:75857
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Respiratory failure OMIM:613658
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Hydrocephalus, Spina bifida, Respiratory failure OMIM:304120
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:273
Fraser Syndrome 2
Respiratory failure OMIM:617666
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Lobar holoprosencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:468631
Holoprosencephaly
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spinal dysrap... ORPHA:2162
Esophageal Atresia
Cyanosis ORPHA:1199
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis ORPHA:141127
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure, Fragile skin ORPHA:79404
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Pagod Syndrome
Abnormality of neuronal migration, Spina bifida, Encephalocele, Meningocele ORPHA:991
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Jaundice ORPHA:731
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Opitz-Kaveggia Syndrome
Hydrocephalus, Gray matter heterotopia OMIM:305450
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Pachygyria, Spina bifida OMIM:304050
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Orofaciodigital Syndrome I
Hydrocephalus, Abnormal cortical gyration, Gray matter heterotopia, Myelomeningocele OMIM:311200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Type II lissencephaly, Gray matter heterotop... OMIM:615287
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Prominent superficial blood vessels, Cyanosis, Premature skin wr... ORPHA:740
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Nocardiosis
Respiratory failure ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Postinfectious Vasculitis
Vasculitis in the skin, Palpable purpura, Cutis marmorata, Acrocyanosis ORPHA:48435
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Holoprosencephaly, Gray matter heterotopia OMIM:618820
Aortic Arch Interruption
Cyanosis ORPHA:2299
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Vici Syndrome
Gray matter heterotopia OMIM:242840
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Microlissencephaly, Gray matter hetero... OMIM:210710
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Encephalocele OMIM:603671
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bruising susceptibility, Poo... ORPHA:287
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
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
Fontaine Progeroid Syndrome
Hydrocephalus, Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Truncus Arteriosus
Cyanosis ORPHA:3384
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Holoprosencephaly, Simplified gyral pattern, Periventric... OMIM:615948
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus OMIM:236680
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Goodpasture Syndrome
Cyanosis OMIM:233450
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Holoprosencephaly OMIM:270400
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Cyanosis ORPHA:99125
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, 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
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter