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Gene: Foxg1 MGI:1347464

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box G1
Synonyms:
BF-1,  Hfhbf1,  Bf1,  Hfh9,  2900064B05Rik

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 Foxg1 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.

The table below shows human diseases associated to Foxg1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose, Agenesis of corpus callosum ORPHA:261144
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Bulbous nose OMIM:613454

The table below shows human diseases predicted to be associated to Foxg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Optic Atrophy 5
Slow decrease in visual acuity, Constriction of peripheral visual field, Abnormality of pattern v... OMIM:610708
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Visual loss... OMIM:616648
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal scotoma, Central sco... OMIM:165500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory evoked potenti... OMIM:125250
Stargardt Disease
Color vision defect, Central scotoma, Reduced visual acuity, Nyctalopia, Photopsia, Abnormality o... ORPHA:827
Pyknoachondrogenesis
Stillbirth OMIM:265880
Canavan Disease
Blindness, Visual impairment, EEG abnormality, Abnormality of visual evoked potentials ORPHA:141
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of visual evok... ORPHA:320401
Perching Syndrome
Respiratory distress, Depressed nasal bridge, Cyanosis, Rod-cone dystrophy OMIM:617055
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum ORPHA:171703
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, Blindness, E... ORPHA:168491
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Visual impairment, Abnormal electroretinogram, Abnormality o... ORPHA:1933
Mohr-Tranebjaerg Syndrome
Color vision defect, Abnormality of somatosensory evoked potentials, Visual loss, Central scotoma... ORPHA:52368
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Abnormality o... ORPHA:1947
Peroxisomal Acyl-Coa Oxidase Deficiency
EEG abnormality, Myopia, Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:2971
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Absent brainstem auditory responses, Progressive visual ... ORPHA:1215
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Respiratory insufficiency, Apnea, Neonatal death, Retinal atrophy, Rod-cone dy... OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory distress, Anteverted nares, Dyspnea, Respiratory failure, Shor... ORPHA:1832
Intellectual Developmental Disorder And Retinitis Pigmentosa
Nyctalopia, Reduced visual acuity, Abnormal flash visual evoked potentials OMIM:618195
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Amblyopia, Abnormality of visual evoked potentials ORPHA:352731
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Slow decrease in visual acuity, Decreased motor nerve conduction velocity, C... OMIM:601152
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Abnormality of visual evoked potentials OMIM:609304
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Myopia, Abnormality of ... OMIM:601455
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Constriction of peripheral visual field, Progressive visua... ORPHA:436245
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Blindness, Visual loss, Progressive visual loss, Visual im... OMIM:601338
Ataxia With Vitamin E Deficiency
Nyctalopia, Visual impairment, Abnormality of visual evoked potentials ORPHA:96
Krabbe Disease
Decreased nerve conduction velocity, Blindness, EEG abnormality, Abnormal flash visual evoked pot... OMIM:245200
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Respiratory failure OMIM:619773
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormal electroretinogram, Cerebral visual impairment, Hypermetropia, Myopia, Abnormality of vis... OMIM:616875
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Visual field defect, Reduced visual acuity, Dec... OMIM:229300
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Neonatal respiratory distress, Apnea, Agenesis of corpus callosum, Respiratory... ORPHA:168486
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia, Abnormality of visual evoked potentials OMIM:614457
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Wide nasal bridge, Anteverted nares, Agenesis of corpus callosum, Apneic episode... OMIM:312170
Spastic Paraplegia 79B, Autosomal Recessive
Visual loss, Reduced visual acuity, Progressive visual loss, Myopia, Abnormality of visual evoked... OMIM:615491
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Visual impairment, Abnormal... ORPHA:485421
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cerebral visual impairment, Undetectable visual evoked potentials, Visual loss OMIM:619051
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormal electroretinogram, Abnormality of visual evoked potentials OMIM:125310
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Tachypnea, Respirat... OMIM:263000
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Visual loss, Abnormality of visual evoked potentials OMIM:256600
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, EEG abnormality, Abnormality of visual evoked potentials ORPHA:480898
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Respiratory insufficiency, Anteverted nares, Respirato... OMIM:313420
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Respiratory distress, Agenesis of corpus callosum, Abnormal retinal morphology... ORPHA:89844
Bardet-Biedl Syndrome 16
Respiratory distress, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Agenesis of corpus callosum OMIM:619466
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:614399
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pelizaeus-Merzbacher Disease
Visual impairment, Abnormality of visual evoked potentials ORPHA:702
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment, Abnormality of visual evoked potentials ORPHA:79431
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Peho Syndrome
Undetectable visual evoked potentials, Hypsarrhythmia OMIM:260565
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Neonatal respiratory distress, Respiratory distress, Death in infancy, Short nose OMIM:615042
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of peripheral nerve conduction, Abnormality of visual evoked potentials ORPHA:35069
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormal flash visual evoked potentials, Abnormality of somat... ORPHA:98755
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Xq12-Q13.3 Duplication Syndrome
Hypsarrhythmia, Abnormality of visual evoked potentials ORPHA:314389
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Central apnea, Respiratory insufficiency due to muscle weakness, Sp... OMIM:618291
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Ruvalcaba Syndrome
Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:3121
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:370968
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Hydrocephalus, Spin... OMIM:207950
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Abnormal pattern of respiration, Respiratory insufficiency... OMIM:256000
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Erythema, Lateral ventr... OMIM:610015
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
White-Sutton Syndrome
Abnormal electroretinogram, Hypermetropia, Mild myopia, Myopia, Visual impairment, Abnormality of... OMIM:616364
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dysp... OMIM:265120
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Abnormality of pattern visual evoked potentials, Abnormal electroretinogram,... ORPHA:166035
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Lateral ventricle dilatation, Cyanotic episode ORPHA:284417
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Resp... OMIM:614299
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309256
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309263
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Malaria
Respiratory distress, Retinopathy ORPHA:673
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal ... OMIM:610921
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Respiratory distress, Agenesis of corpus callosum, Absent ... ORPHA:990
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory failure, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Agnathia-Otocephaly Complex
Respiratory distress, Holoprosencephaly, Wide nose, Agenesis of corpus callosum OMIM:202650
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Mpdu1-Cdg
Undetectable visual evoked potentials, Hypsarrhythmia ORPHA:79323
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Depressed nasal bridge, Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Central ap... OMIM:616482
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Respiratory failure requiring assisted... ORPHA:70589
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Respiratory failure ORPHA:71211
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Visual impairment, Lateral ventricle dilatation ORPHA:2822
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Communicating hydrocephalus, Respiratory failure ORPHA:1861
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Disorder Of Glycosylation, Type Ie
Depressed nasal bridge, Optic atrophy, Abnormal macular morphology, Respiratory distress, Retinop... OMIM:608799
Hermansky-Pudlak Syndrome
Amblyopia, Myopia, Visual impairment, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia, Respiratory fa... ORPHA:2302
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Respiratory failure, Hypoxemia ORPHA:178320
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309271
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia, Respiratory failure requiring assisted ventilation ORPHA:140896
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Dyspnea, Hypoxemia, Respiratory failure, Respirato... ORPHA:723
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea, Neonatal respiratory distress OMIM:267450
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Abnormal optic nerve morphology, Respiratory distress, Choroideremia, Chorioretina... ORPHA:2707
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator... OMIM:608647
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Depressed nasal bridge, Optic atrophy, Natal tooth, Respiratory distress, Anteve... OMIM:123790
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Nasal congestion, Chronic rhinitis, Hydrocephalus... ORPHA:244
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Tachypnea, Respiratory failure, Death in childhood OMIM:615838
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Lateral ventricle dilatation, Death in childhood OMIM:619847
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Respiratory failure OMIM:250940
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Agenesis of corpus callosum ORPHA:370959
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Anteverted nares, Optic atrophy, Respiratory failure OMIM:616505
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Optic di... OMIM:615512
Tetrasomy 5P
Wide nasal bridge, Respiratory distress, Anteverted nares, Cyanosis, Hydrocephalus, Short nose ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Respiratory distress, Death in childhood, Exertional dyspn... OMIM:220110
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Odontochondrodysplasia
Depressed nasal bridge, Delayed eruption of teeth, Respiratory distress, Death in infancy, Short ... ORPHA:166272
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Respiratory failure OMIM:620326
Mogs-Cdg
Absent brainstem auditory responses, Abnormality of visual evoked potentials ORPHA:79330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Nasal congestion, Bulbous nose, Apnea, ... OMIM:608836
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure ORPHA:2254
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials ORPHA:423479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... OMIM:620375
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Convex nasal ridge OMIM:619793
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Succinic Acidemia
Respiratory distress OMIM:600335
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials ORPHA:512
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Erythema, Respiratory distress, Vitritis, Abnormality of retinal pigmentation,... ORPHA:2556
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cerebrotendinous Xanthomatosis
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:909
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Retinal pigment epithelial mottling, Wide nasal bridge OMIM:617102
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Optic atrophy, Broad columella, Respiratory distress, Narrow nasal bridge, Ant... OMIM:619383
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea, Respiratory failure, Hypoxemia ORPHA:36238
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Respiratory distress, Anteverted nares, Agenesis of corpus callosum... OMIM:612863
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:1302
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Glycine Encephalopathy With Normal Serum Glycine
Depressed nasal bridge, Optic atrophy, Anteverted nares, Apnea, Respiratory failure OMIM:617301
Breath-Holding Spells
Cyanosis OMIM:607578
Laryngotracheoesophageal Cleft
Dyspnea, Neonatal respiratory distress, Cyanosis ORPHA:2004
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Respiratory distress, Chronic rhinitis, Dyspnea, Ab... ORPHA:922
Acute Interstitial Pneumonia
Cyanosis, Tachypnea, Dyspnea, Respiratory failure, Hypoxemia ORPHA:79126
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation ORPHA:264675
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Bradypnea, Respiratory failure OMIM:617186
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Visual impairment, Severely reduced visual acuity OMIM:259720
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Respiratory insufficiency, Respiratory distress, Ta... ORPHA:60032
Snakebite Envenomation
Epistaxis, Erythema, Angioedema, Ecchymosis, Respiratory failure ORPHA:449285
Warburg Micro Syndrome 2
Undetectable visual evoked potentials OMIM:614225
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Petechiae, Vasculitis in the skin, Purpura, Respira... OMIM:620296
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Respiratory failure OMIM:617895
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Neonatal respiratory distress, Respiratory distress, Anteverted nares, Ag... OMIM:217980
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Apnea, Encephalocele, Retinopathy, Megalopapilla, Dyspnea... OMIM:615636
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Cyanosis, Lateral ventricle dilatation ORPHA:488627
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia, Respira... OMIM:610913
Encephalopathy, Ethylmalonic
Abnormal retinal vascular morphology, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation ORPHA:596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Deafness-Lymphedema-Leukemia Syndrome
Abnormal optic nerve morphology, Bruising susceptibility, Respiratory failure ORPHA:3226
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure OMIM:604320
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Visual loss, Abnormality of visual evoked potentials OMIM:203700
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Chorioretinal lacunae, Retinal pigment epithelial mottling, Agenesis of cor... OMIM:618733
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Cockayne Syndrome B
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Hypermetropia, Abnormal... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Retinal dystrophy OMIM:616538
Metatropic Dysplasia
Depressed nasal bridge, Respiratory failure, Respiratory insufficiency OMIM:156530
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Cockayne Syndrome A
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Hypermetropia, Abnormal... OMIM:216400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge OMIM:245590
Sandestig-Stefanova Syndrome
Wide nasal bridge, Respiratory failure, Convex nasal ridge OMIM:618804
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure OMIM:603689
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Optic atrophy, Respiratory distress, Anteverted nares, H... ORPHA:1555
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
Chitayat Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella OMIM:617180
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:98914
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Laryngomalacia
Respiratory distress OMIM:150280
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Alg1-Cdg
Respiratory failure ORPHA:79327
Meckel Syndrome 14
Cardiorespiratory arrest, Occipital encephalocele, Anteverted nares, Cyanosis, Holoprosencephaly OMIM:619879
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... OMIM:211530
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Tricuspid Atresia
Cyanosis ORPHA:1209
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Degenerative vitreoretinopathy OMIM:607598
Geleophysic Dysplasia 3
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Dyspnea, Respiratory f... OMIM:617809
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy, Rod-cone dystrophy ORPHA:254913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Depressed nasal bridge, Death in infancy, Irregular respiration OMIM:604377
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Leigh Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal pattern of respiration, Agenesis of corp... ORPHA:506
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Agenesis of corpus call... ORPHA:209905
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Respiratory distress, Hydrocephalus, Aqueductal stenosis... ORPHA:93259
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Narrow nasal bridge, Short nose ORPHA:544503
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Neonatal asphyxia ORPHA:70588
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Depressed nasal bridge, Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Dyspnea, Optic ne... OMIM:610505
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis, Agenesis of corpus callosum, Tachypnea, Hydrocephalus ORPHA:137675
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Retinal vascular tortuosity ORPHA:51188
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Respiratory failure ORPHA:563
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure ORPHA:330021
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... OMIM:618426
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency OMIM:609015
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Blindness OMIM:252010
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Radio-Renal Syndrome
Depressed nasal bridge, Respiratory distress, Convex nasal ridge, Dyspnea, Respiratory failure ORPHA:3015
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Respiratory failure requiring assisted venti... ORPHA:555874
Choanal Atresia
Respiratory distress, Cyanosis, Nasal congestion ORPHA:137914
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure ORPHA:542323
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Prolonged neonatal jaundice ORPHA:226313
Idiopathic Pulmonary Hemosiderosis
Dyspnea, Respiratory failure ORPHA:99931
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Respiratory distress, Oxygen desaturation on exertion, Tachypnea, ... OMIM:610978
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Peroxisome Biogenesis Disorder 4A (Zellweger)
Depressed nasal bridge, Respiratory failure, Death in infancy OMIM:614862
Autosomal Recessive Malignant Osteopetrosis
Visual impairment, Abnormality of visual evoked potentials ORPHA:667
Kniest Dysplasia
Respiratory distress, Depressed nasal bridge, Retinal detachment OMIM:156550
Ramos-Arroyo Syndrome
Depressed nasal bridge, Respiratory distress, Anteverted nares, Choriocapillaris atrophy, Chorior... ORPHA:1051
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Respiratory distress, Anteverted nares, Apnea, Petechiae, Neonatal death,... OMIM:608013
Congenital Heart Block
Cyanosis ORPHA:60041
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Respiratory distress, Anteverted nares, Apnea, Hypoventilation, Short nose ORPHA:314655
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Hypoplastic nasal tip, Cyanosis ORPHA:3304
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency due to muscle weakness OMIM:310200
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Respiratory insufficiency, Respiratory distress, S... OMIM:608022
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent nose, Acrocyanosis OMIM:614407
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Japanese Encephalitis
Paucity of anterior horn motor neurons, Focal T2 hyperintense thalamic lesion, Abnormal thalamus ... ORPHA:79139
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory distress, Telangiectasia of the skin, Dyspnea, Prematurely ... ORPHA:3342
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge OMIM:157900
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Wide nasal bridge, Optic atrophy, Respiratory distress, Death in ... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy, Short nose ORPHA:329178
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Retinal detachment, Wide nose OMIM:607143
Odontochondrodysplasia 1
Respiratory distress, Delayed eruption of teeth, Death in infancy OMIM:184260
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Retinal detachment, Cervical myelopathy, Vitreoretinopathy OMIM:183900
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy OMIM:617478
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Jaundice, Neonatal death OMIM:231680
Achondroplasia
Depressed nasal bridge, Respiratory distress, Death in infancy, Choanal stenosis, Hydrocephalus OMIM:100800
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology ORPHA:3392
Alfadhel Syndrome
Bulbous nose, Nasal flaring OMIM:620655
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure OMIM:617248
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:746
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspn... ORPHA:60025
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Respiratory distress, Aqueductal stenosis, Short nose ORPHA:93260
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Hypoventilation, Intercostal muscle weakness, Respiratory insuffic... ORPHA:70
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness... ORPHA:308552
Double Outlet Right Ventricle
Depressed nasal bridge, Tachypnea, Cyanosis ORPHA:3426
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Sepsis In Premature Infants
Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Biotinidase Deficiency
Optic atrophy, Myelopathy, Respiratory distress, Apnea, Hyperventilation, Optic neuropathy ORPHA:79241
Dravet Syndrome
Cyanotic episode ORPHA:33069
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Respiratory insufficiency, Nasal congestion, Respiratory insufficiency due to de... OMIM:616037
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Lateral ventricle dilatation, Respiratory distress, Prominent nose, Anteverted n... ORPHA:177907
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Depressed nasal bridge, Respiratory distress, Anteverted nares, Communicating ... OMIM:618188
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Multiple Mitochondrial Dysfunctions Syndrome 7
Anteverted nares, Apnea, Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Respiratory distress,... ORPHA:79282
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Bruising susceptibility, Respiratory insufficiency, Respiratory distress,... ORPHA:536467
Farber Disease
Recurrent upper respiratory tract infections, Macular degeneration, Cherry red spot of the macula... ORPHA:333
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Absent inner and outer dynei... OMIM:615444
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Death in infancy, Respira... OMIM:300868
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n... ORPHA:438216
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure ORPHA:803
Pai Syndrome
Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Encephalocele ORPHA:1993
Craniofaciofrontodigital Syndrome
Depressed nasal bridge, Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, ... ORPHA:363705
Holoprosencephaly 7
Panhypopituitarism, Partial agenesis of the corpus callosum, Fusion of the left and right thalami... OMIM:610828
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Intercostal retractions, Neonatal respiratory distr... ORPHA:95430
Cryptococcosis
Abnormal optic nerve morphology, Respiratory distress, Hydrocephalus, Abnormal retinal morphology... ORPHA:1546
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Rodrigues Blindness
Narrow nasal bridge, Nasal flaring, Ectodermal dysplasia OMIM:268320
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... ORPHA:141083
Pulmonary Arteriovenous Malformation
Epistaxis, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia ORPHA:2038
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum ORPHA:314621
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Depressed nasal bridge, Stillbirth OMIM:151210
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus OMIM:261740
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... ORPHA:98915
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Cyanosis ORPHA:747
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Pulmonary Capillary Hemangiomatosis
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:199241
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Generalized abnormality of skin, Respiratory distress, Retinal as... ORPHA:805
Tarp Syndrome
Wide nasal bridge, Optic atrophy, Anteverted nares, Apnea, Cyanosis ORPHA:2886
Waardenburg Syndrome Type 3
Narrow nasal bridge, Acrocyanosis ORPHA:896
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria ORPHA:183
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea ORPHA:411703
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Partial anosmia, Total anosmia ORPHA:2326
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Respiratory insufficiency OMIM:617239
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms, Respiratory insufficien... OMIM:614935
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Respiratory distress, Abnormality of retinal pigmentation, Hydrocephalus, Short nose ORPHA:505248
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Choanal atresia, Anteverted nares, Short nose OMIM:610536
Malignant Atrophic Papulosis
Abnormal optic nerve morphology, Telangiectasia of the skin, Respiratory failure ORPHA:679
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Respiratory distress, Bulbous nose, P... OMIM:300968
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Neonatal respiratory distress, Chronic rhinitis OMIM:617092
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Lethal Acantholytic Erosive Disorder
Fragile skin, Natal tooth, Respiratory failure ORPHA:158687
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Isolated Arrhinia
Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplasia/Hypoplasia o... ORPHA:1134
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus, Absent outer dynein arms OMIM:244400
Scedosporiosis
Respiratory failure ORPHA:449280
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ethylene Glycol Poisoning
Tachypnea, Cyanosis, Abnormal pattern of respiration, Episodic respiratory distress ORPHA:31826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Enlarged flash visual evoked potentials, EEG abnormality, Myopia, Undetectable electroretinogram,... OMIM:253280
Bloom Syndrome
Retinopathy, Telangiectasia, Rhinitis, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Anteverted nares, Respiratory failure ORPHA:254528
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Neonatal respiratory... OMIM:613808
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice ORPHA:26793
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose ORPHA:50810
Oromandibular Dystonia
Respiratory distress, Abnormality of the nose ORPHA:93958
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Pitt-Hopkins Syndrome
Failure of eruption of permanent teeth, Triangular nasal tip, Abnormal pattern of respiration, An... ORPHA:2896
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory distress, Exertional dyspnea, Orthopnea, Respiratory insuf... ORPHA:365
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nose, Prominent nasal bridge, Convex nasal ridge, Cutaneous pho... ORPHA:647
Riddle Syndrome
Neonatal asphyxia, Erythema, Recurrent sinusitis, Telangiectasia, Conjunctival telangiectasia, Re... ORPHA:420741
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Cyanosis ORPHA:1329
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:99106
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Respiratory failure, Rod-con... ORPHA:14
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema ORPHA:2177
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... ORPHA:2495
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Esophageal Atresia
Respiratory distress, Choanal atresia, Cyanosis, Episodic respiratory distress ORPHA:1199
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Respiratory distress, Petechiae, Ecchymosis, Dyspnea, Respiratory failure ORPHA:340
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Listeriosis
Respiratory distress, Jaundice, Respiratory failure, Miscarriage ORPHA:533
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Lateral ventricle dilatation, Dysplasti... ORPHA:500150
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Retinal crystals, Cutis marmorata, Retinopathy, Opti... OMIM:259900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Bickerstaff Brainstem Encephalitis
Dyspnea, Respiratory failure, Hypercapnia, Respiratory failure requiring assisted ventilation ORPHA:79138
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Myelomeningocele, Cyanosis, Hydrocephalus, Aqueductal stenosis OMIM:306955
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Apnea, Episodic respiratory distress, Rod-cone dystrophy, ... ORPHA:255210
Campomelic Dysplasia
Depressed nasal ridge, Recurrent upper respiratory tract infections, Spinal dysraphism, Depressed... OMIM:114290
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide nasal bridge, Depressed nasal bridge, Spinal dysraphism, Anteverted nares, Miscarriage, Peri... ORPHA:96334
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Cardiorespiratory arrest, C... ORPHA:293987
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Pachyonychia Congenita
Respiratory distress, Advanced eruption of teeth, Natal tooth ORPHA:2309
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Mgat2-Cdg
Respiratory distress, Low hanging columella, Convex nasal ridge, Recurrent upper and lower respir... ORPHA:79329
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Osteoglophonic Dysplasia
Choanal atresia, Depressed nasal bridge, Delayed eruption of teeth, Eruption failure, Nasal conge... OMIM:166250
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Hypohidrotic ectodermal dysplasia, Underdeveloped nasal alae, Periorbital... OMIM:305100
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Nocardiosis
Respiratory distress, Dyspnea, Chorioretinitis, Respiratory failure ORPHA:31204
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Spontaneou... OMIM:187300
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:99103
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Lujo Hemorrhagic Fever
Respiratory distress, Rhinitis, Purpura, Ecchymosis ORPHA:319213
Rubinstein-Taybi Syndrome 1
Wide nasal bridge, Recurrent upper respiratory tract infections, Respiratory distress, Prominent ... OMIM:180849
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Cyanosis ORPHA:99104
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Short nose, Wide nasal bridge OMIM:620369
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis OMIM:615518
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria ORPHA:100050
Congenital Tracheal Stenosis
Respiratory distress, Dyspnea, Cyanosis, Neonatal asphyxia ORPHA:141127
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Costello Syndrome
Depressed nasal bridge, Respiratory insufficiency, Anteverted nares, Hydrocephalus, Respiratory f... OMIM:218040
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Ecchymosis ORPHA:36234
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Generalized abnormality of skin, Impacted tooth, Abnormal nasal tip mo... ORPHA:740
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... ORPHA:2020
Fraser Syndrome 2
Respiratory failure, Underdeveloped nasal alae, Wide nose OMIM:617666
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Spontaneous, re... OMIM:610655
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Unilateral Polymicrogyria
Epistaxis, Apnea, Cyanosis ORPHA:268943
Arboleda-Tham Syndrome
Bifid nasal tip, Neonatal respiratory distress, Broad nasal tip, Optic atrophy, Respiratory distr... OMIM:616268
Cleidocranial Dysplasia 1
Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Respiratory distress, D... OMIM:119600
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Dyspnea, Fragile skin, Respiratory failure ORPHA:79404
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Abnormal retinal morphology ORPHA:228123
Primary Hyperoxaluria
Optic atrophy, Choroidal neovascularization, Cutis marmorata, Retinopathy, Optic disc pallor, Acr... ORPHA:416
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood OMIM:613848
Diamond-Blackfan Anemia 10
Respiratory distress, Choanal atresia OMIM:613309
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Granulomatosis With Polyangiitis
Concave nasal ridge, Respiratory insufficiency, Retinal hemorrhage, Nasal mucosa vasculitis OMIM:608710
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing ORPHA:2131
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Prominent nose, Dyspnea, Long nose, Respiratory failure ORPHA:2636
Myhre Syndrome
Prominent nasal bridge, Respiratory failure, Respiratory insufficiency OMIM:139210
Adnp Syndrome
Respiratory distress, Advanced eruption of teeth, Recurrent upper respiratory tract infections, D... ORPHA:404448
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory failure, Respiratory insufficiency OMIM:613658
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Respiratory insufficiency, Hydrocephalus, Spina bifida, Stillbirth, Respi... OMIM:304120
8Q24.3 Microdeletion Syndrome
Wide nasal bridge, Broad nasal tip, Branchial cyst, Retinal coloboma, Respiratory distress, Antev... ORPHA:508488
Absence Of The Pulmonary Artery
Dyspnea, Orthopnea, Cyanosis, Hypocapnia ORPHA:980
Autosomal Recessive Polycystic Kidney Disease
Depressed nasal ridge, Jaundice, Respiratory failure, Hypoventilation ORPHA:731
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:2299
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Doors Syndrome
Wide nasal base, Wide nasal bridge, Optic atrophy, Broad nasal tip, Respiratory distress, Bulbous... ORPHA:79500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy OMIM:617156
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Familial Dysautonomia
Optic atrophy, Acrocyanosis ORPHA:1764
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria ORPHA:37042
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Idiopathic Hypereosinophilic Syndrome
Angioedema, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Dyspnea, Urticaria ORPHA:3260
Mhc Class I Deficiency 1
Nasal polyposis OMIM:604571
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Respiratory insufficiency due to muscle weakness OMIM:164310
Schinzel-Giedion Syndrome
Broad nasal tip, Delayed eruption of teeth, Respiratory distress, Choanal stenosis, Short nose, N... ORPHA:798
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress OMIM:620306
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... ORPHA:54595
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Neonatal respiratory distress, Respiratory distress, Prominent nose, Fragile skin OMIM:614748
Neuroblastoma
Respiratory distress ORPHA:635
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose ORPHA:2869
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Nasal flaring ORPHA:466943
Q Fever
Respiratory distress, Purpura ORPHA:781
Leptospirosis
Respiratory distress, Macular cotton wool spot, Chorioretinitis, Optic neuritis, Papilledema, Ret... ORPHA:509
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:273
Lipoid Proteinosis
Nasal polyposis ORPHA:530
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy OMIM:224690
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Anteverted nares OMIM:615273
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Hypopnea, Petechiae ORPHA:2330
Toxic Epidermal Necrolysis
Respiratory distress, Erythema ORPHA:537
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Retinal dysplasia OMIM:601374
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea ORPHA:90068
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency ORPHA:646
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Respiratory distress, Angioid streaks of the fundus, Cyanosis, Reti... ORPHA:51608
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Respiratory failure, Convex nasal ridge ORPHA:3404
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis ORPHA:99050
Coffin-Lowry Syndrome
Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Cutis marmorata, Acrocya... OMIM:303600
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth... ORPHA:221
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Retinal vasculitis, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Eisenmenger Syndrome
Respiratory distress, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:97214
Congenital Alveolar Capillary Dysplasia
Respiratory distress ORPHA:210122
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Choanal atresia, Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Res... ORPHA:480880
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Choanal stenosis, Underdeveloped nasal alae, Wide nasal bridge ORPHA:83617
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis, Convex nasal ridge ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspne... ORPHA:99125
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Rhinitis, Generalized abnormality of skin, Respiratory failure requiring as... ORPHA:95455
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Scimitar Syndrome
Respiratory distress ORPHA:185
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Gitelman Syndrome
Respiratory distress ORPHA:358
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge OMIM:617088
Benign Schwannoma
Nasal polyposis ORPHA:252164
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Apnea, Acrocyanosis, Bruising susceptibility ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Peutz-Jeghers Syndrome
Nasal polyposis OMIM:175200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Pmm2-Cdg
Respiratory distress, Prominent nose, Prominent nasal bridge, Anteverted nares, Abnormal subcutan... ORPHA:79318
Plague
Respiratory distress ORPHA:707
Sarcoidosis
Dyspnea, Abnormal nasal mucosa morphology ORPHA:797
Williams Syndrome
Abnormality of the diencephalon ORPHA:904
Alström Syndrome
Recurrent upper respiratory tract infections, Respiratory distress, Dorsocervical fat pad, Recurr... ORPHA:64
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose, Agenesis of corpus callosum ORPHA:261144
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress ORPHA:99646
Cystic Fibrosis
Nasal polyposis OMIM:219700
Cystic Fibrosis
Nasal polyposis ORPHA:586
Norrie Disease
Abnormality of the diencephalon ORPHA:649
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Bulbous nose OMIM:613454

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 Foxg1

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 Foxg1.

No publications found that use IMPC mice or data for Foxg1.

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MGI Allele Allele Type Produced
Foxg1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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