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

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 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
Short nose, Bulbous nose, Depressed nasal bridge, Agenesis of corpus callosum ORPHA:261144
Rett Syndrome, Congenital Variant
Bulbous nose, Depressed nasal bridge 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
Constriction of peripheral visual field, Tritanomaly, Abnormality of pattern visual evoked potent... OMIM:610708
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Visual loss, Central scotoma, Abnormal auditory ... OMIM:616648
Optic Atrophy 1
Tritanomaly, Central scotoma, Red-green dyschromatopsia, Abnormal amplitude of pattern reversal v... OMIM:165500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Tritanomaly, Dyschromatopsia, Central scotoma, Red-green dyschromatopsia, Abnormal auditory evoke... OMIM:125250
Stargardt Disease
Color vision defect, Central scotoma, Photopsia, Abnormality of visual evoked potentials, Reduced... ORPHA:827
Pyknoachondrogenesis
Stillbirth OMIM:265880
Canavan Disease
Abnormality of visual evoked potentials, EEG abnormality, Blindness, Visual impairment ORPHA:141
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Perching Syndrome
Cyanosis, Rod-cone dystrophy, Depressed nasal bridge, Respiratory distress OMIM:617055
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Respiratory distress ORPHA:171703
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with spike-wave complexes, Visual loss, Abnormal amplitude of flash visual evoked potentials,... ORPHA:168491
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual impairment, ... ORPHA:1933
Mohr-Tranebjaerg Syndrome
Color vision defect, Visual loss, Photophobia, Central scotoma, Cerebral visual impairment, Absen... 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
Undetectable electroretinogram, Abnormality of pattern visual evoked potentials, EEG with abnorma... ORPHA:1947
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials, EEG abnormality, Abnormal electroretinogram ORPHA:2971
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Abnormality of visual evoked potentials, Progressive vis... ORPHA:1215
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Retinal atrophy, Apnea, Neonatal death, Respiratory failure, Rod-cone ... OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Short nose, Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Respiratory f... ORPHA:1832
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Abnormal flash visual evoked potentials, Nyctalopia OMIM:618195
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Amblyopia, Reduced visual acuity, Photophobia ORPHA:352731
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea, Death in infancy OMIM:611722
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Central scotoma, Slow decrease in visual acuity, Abnormality of visual evoke... OMIM:601152
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, EEG with burst suppression 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
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Amblyopia OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal au... OMIM:601455
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Undetectable visual evoked potentials, Progressive visua... ORPHA:436245
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Visual loss, Undetectable visual evoked potentials, Blindness, Progressive visual loss, Visual im... OMIM:601338
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Visual impairment, Nyctalopia ORPHA:96
Krabbe Disease
EEG abnormality, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Bl... OMIM:245200
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress OMIM:619773
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Hypermetropia, Cerebral visual impairment, Abnormality of visual evoked potentials, Abnormal elec... OMIM:616875
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Decreased a... OMIM:229300
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Agenesis of corpus callosum, Respiratory failure, Neonatal respiratory distress, Wide nasa... ORPHA:168486
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
High myopia, Abnormality of visual evoked potentials, Photophobia OMIM:614457
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Apneic episodes precipitated by illness, fatigue, stress, Agen... OMIM:312170
Spastic Paraplegia 79B, Autosomal Recessive
Visual loss, Abnormality of visual evoked potentials, Reduced visual acuity, Myopia, Progressive ... OMIM:615491
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Apnea, Death in infancy OMIM:613869
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked potentials, EEG... ORPHA:485421
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
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Cerebral visual impairment, Visual loss OMIM:619051
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss, Abnormal electroretinogram OMIM:125310
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory failure, Tachypne... OMIM:263000
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual loss OMIM:256600
Mepan Syndrome
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Abnormality of visual evoked potentials, EEG abnormality, Cerebral visual impairment ORPHA:480898
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Anteverted nares, Respiratory failure, Wide nasal bridge, Depressed na... OMIM:313420
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Respiratory distress, Agenesis of corpus callosum, Abnormal retinal morphology, Wide n... ORPHA:89844
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Respiratory distress OMIM:615993
Congenital Myopathy 14
Respiratory failure, Apnea, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Respiratory distress OMIM:619466
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Respiratory distress OMIM:614399
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Oculocutaneous Albinism Type 1A
Visual impairment, Abnormality of visual evoked potentials, Photophobia 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
Hypsarrhythmia, Undetectable visual evoked potentials OMIM:260565
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Short nose, Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Abnormality of peripheral nerve conduction, Blindness ORPHA:35069
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Respiratory failure, Neonatal respiratory distress OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Dyspnea ORPHA:90117
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... 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 requiring assisted ventilation, Respiratory failure ORPHA:132
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Ventilator dependence with inability to wean, Re... 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
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatat... OMIM:618291
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy ORPHA:370968
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea, Death in infancy OMIM:616277
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Glutamine Deficiency, Congenital
Short nose, Erythema, Anteverted nares, Apnea, Neonatal death, Lateral ventricle dilatation, Neon... OMIM:610015
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
White-Sutton Syndrome
Hypermetropia, Mild myopia, Abnormality of visual evoked potentials, Abnormal electroretinogram, ... OMIM:616364
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Death in infancy, Apnea, Neonatal death, Respiratory failure, Tachypnea, Cyanosis, Neona... OMIM:265120
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure, P... OMIM:256000
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Depressed nasal bridge, Lateral ventricle dilatation ORPHA:284417
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Visual field defect, Nyctalopia, Abnormal electr... ORPHA:166035
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory distress, Respiratory insufficiency, Death in infancy, Respiratory fai... OMIM:614299
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Hydrocephalus, Respiratory failure OMIM:276950
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Reduced visual acuity ORPHA:309256
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Reduced visual acuity ORPHA:309263
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Malaria
Retinopathy, Respiratory distress ORPHA:673
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Hypoxemia, Apnea, Neonatal d... OMIM:610921
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Agenesis of corpus callosum, Absent nares, Aplasia/Hypop... ORPHA:990
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Infant Acute Respiratory Distress Syndrome
Nasal flaring, Hypoxemia, Respiratory failure, Tachypnea, Cyanosis ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly, Agenesis of corpus callosum, Respiratory distress OMIM:202650
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Exertional dyspnea, Cyanosis, Orthopnea ORPHA:98913
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Respiratory distress ORPHA:26792
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Choanal atresia, Respiratory failure, Wide nasal bridge 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
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Mpdu1-Cdg
Hypsarrhythmia, Undetectable visual evoked potentials ORPHA:79323
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure, Apnea, 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
Respiratory distress, Hydrocephalus, Neonatal death, Respiratory failure, Palmoplantar cutis laxa... 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 failure requiring assisted ventilation, Respiratory distress, Dyspnea, Hyperoxemia, C... ORPHA:70589
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Optic neuritis ORPHA:71211
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Autosomal Recessive Spastic Paraplegia Type 11
Visual impairment, Abnormality of pattern visual evoked potentials, Lateral ventricle dilatation ORPHA:2822
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Respiratory distress, Retinopathy, Abnormal macular morphology, Depressed nasal br... OMIM:608799
Hermansky-Pudlak Syndrome
Photophobia, Abnormality of visual evoked potentials, Myopia, Amblyopia, Visual impairment ORPHA:79430
Hyperekplexia 4
Respiratory failure OMIM:618011
Asbestos Intoxication
Exertional dyspnea, Dyspnea, Hypoxemia, Respiratory failure, Cyanosis, Oxygen desaturation on exe... ORPHA:2302
Acute Lung Injury
Respiratory distress, Dyspnea, Hypoxemia, Respiratory failure, Tachypnea ORPHA:178320
High Altitude Pulmonary Edema
Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Reduced visual acuity ORPHA:309271
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Pneumocystosis
Respiratory failure requiring assisted ventilation, Exertional dyspnea, Respiratory insufficiency... 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
Tachypnea, Neonatal respiratory distress, Dyspnea, Respiratory distress OMIM:267450
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory distress, Dyspnea, Abnormal optic nerve morphology, Choroideremia, Res... ORPHA:2707
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic rhinitis, ... OMIM:608647
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Choanal atresia, Natal toot... OMIM:123790
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Primary Ciliary Dyskinesia
Hydrocephalus, Nasal congestion, Chronic rhinitis, Nasal polyposis, Respiratory failure, Neonatal... ORPHA:244
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood, Optic disc pallor OMIM:615838
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood, Lateral ventricle dilatation OMIM:619847
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Jaundice, Respiratory distress OMIM:250940
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Agenesis of corpus callosum ORPHA:370959
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure, Anteverted nares, Bulbous nose OMIM:616505
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Exertional dyspnea, Death in childhood, Respiratory distress, Respiratory insuffic... OMIM:220110
Tetrasomy 5P
Short nose, Respiratory distress, Hydrocephalus, Anteverted nares, Cyanosis, Wide nasal bridge ORPHA:3309
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Dyspnea OMIM:620326
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses ORPHA:79330
Odontochondrodysplasia
Short nose, Respiratory distress, Delayed eruption of teeth, Death in infancy, Depressed nasal br... ORPHA:166272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Nasal congestion, Death in infancy, Apnea, Agenesis of corpus callosum... OMIM:608836
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure ORPHA:2254
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Dyspnea 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 failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff... OMIM:620375
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Restrictive Dermopathy 2
Convex nasal ridge, Cyanosis, Respiratory distress OMIM:619793
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress OMIM:616974
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Succinic Acidemia
Respiratory distress OMIM:600335
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Cyanosis, Rod-cone dystrophy ORPHA:391428
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual impairment ORPHA:512
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress OMIM:616867
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Erythema, Retinal dysplasia, Retinal dystrophy, Hydrocephalus... ORPHA:2556
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
Folinic Acid-Responsive Seizures
Optic atrophy, Apnea, Respiratory distress ORPHA:79097
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Hypoxemia, Respiratory failure, Tachypnea ORPHA:454836
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Primary Pulmonary Hypoplasia
Hypoxemia, Apnea, Tachypnea, Cyanosis, Neonatal respiratory distress ORPHA:2257
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Wide nasal bridge, Depressed nasal bridge, Respiratory distress OMIM:617102
Cerebrotendinous Xanthomatosis
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... ORPHA:909
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Hypoxemia, Respiratory failure, Tachypnea ORPHA:36238
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Respirat... OMIM:619383
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Anteverted nares, Agenesis of corpus callosum, Lateral ventr... OMIM:612863
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:1302
Adult Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Dyspnea, Abnormal blood gas level ORPHA:70578
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Anteverted nares, Apnea, Respiratory failure, Depressed nasal bridge OMIM:617301
Breath-Holding Spells
Cyanosis OMIM:607578
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea ORPHA:2004
Familial Nasal Acilia
Respiratory distress, Dyspnea, Chronic rhinitis, Abnormal respiratory motile cilium morphology, R... ORPHA:922
Acute Interstitial Pneumonia
Dyspnea, Hypoxemia, Respiratory failure, Tachypnea, Cyanosis ORPHA:79126
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Death in childhood, Respiratory distress OMIM:615597
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Death in childhood, Bradypnea, Respiratory failure, Myelopathy OMIM:617186
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Severely reduced visual acuity, Visual impairment OMIM:259720
Recurrent Respiratory Papillomatosis
Respiratory distress, Respiratory insufficiency, Dyspnea, Recurrent upper respiratory tract infec... ORPHA:60032
Warburg Micro Syndrome 2
Undetectable visual evoked potentials OMIM:614225
Snakebite Envenomation
Angioedema, Ecchymosis, Epistaxis, Respiratory failure, Erythema ORPHA:449285
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Vasculitis in the skin, Recurrent upper respiratory tract infections, Respira... OMIM:620296
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Depressed nasal bridge, Respiratory distress OMIM:617895
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Anteverted nares, Agenesis of corpus callosum, Neonatal respira... OMIM:217980
Panhypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95513
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Single naris, Encephalocele, Dyspnea, Reti... 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 distress, Respiratory insufficiency, Dyspnea, Hypoxemia, Respiratory failure, Tachypn... OMIM:610913
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Abnormal retinal vascular morphology, Death in infancy OMIM:602473
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95512
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Respiratory distress ORPHA:596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Abnormal optic nerve morphology ORPHA:3226
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Respiratory failure, Ventilator dependence with inability to wean OMIM:604320
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Wide nasal bridge, Respiratory distress ORPHA:261304
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Cerebral visual impairment, Visual loss OMIM:203700
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Retinal pigment epithelial mottling, Chorioretinal lacunae, Respirat... OMIM:618733
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Respiratory distress OMIM:620166
Cockayne Syndrome B
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Retinal dystrophy OMIM:616538
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Depressed nasal bridge OMIM:156530
Cockayne Syndrome A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:216400
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
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
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Sandestig-Stefanova Syndrome
Convex nasal ridge, Respiratory failure, Wide nasal bridge OMIM:618804
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Concave nasal ridge, Respiratory distress OMIM:245590
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation OMIM:603689
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Choanal atresia, Depressed ... 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, Anteverted nares, Depressed nasal bridge, Short columella OMIM:617180
Congenital Myasthenic Syndrome
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Respiratory arre... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Respiratory arre... ORPHA:98914
Pleural Mesothelioma
Dyspnea, Respiratory distress ORPHA:50251
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress ORPHA:289916
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure 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
Occipital encephalocele, Anteverted nares, Holoprosencephaly, Cardiorespiratory arrest, Cyanosis OMIM:619879
Brown-Vialetto-Van Laere Syndrome 1
Respiratory failure requiring assisted ventilation, Nocturnal hypoventilation, Death in childhood... OMIM:211530
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Respiratory distress ORPHA:79312
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Tricuspid Atresia
Cyanosis ORPHA:1209
Stt3B-Cdg
Optic atrophy, Respiratory distress ORPHA:370924
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Degenerative vitreoretinopathy OMIM:607598
Geleophysic Dysplasia 3
Anteverted nares, Dyspnea, Respiratory failure, Bulbous nose, Wide nasal bridge, Depressed nasal ... OMIM:617809
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Respiratory distress ORPHA:100057
Isolated Atp Synthase Deficiency
Optic atrophy, Rod-cone dystrophy, Respiratory distress ORPHA:254913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Death in infancy, Depressed nasal bridge, Respiratory distress OMIM:604377
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Leigh Syndrome
Optic atrophy, Abnormal optic nerve morphology, Agenesis of corpus callosum, Abnormal pattern of ... ORPHA:506
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Brain-Lung-Thyroid Syndrome
Respiratory failure, Neonatal respiratory distress, Agenesis of corpus callosum, Respiratory dist... ORPHA:209905
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Short nose, Respiratory distress, Hydrocephalus, Choanal atresia, Depressed ... ORPHA:93259
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Narrow nasal bridge ORPHA:544503
Meconium Aspiration Syndrome
Hypoxemia, Neonatal asphyxia, Respiratory distress ORPHA:70588
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Dyspnea, Cardiorespiratory arrest, Depressed nasal bridge ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Death in childhood, Respiratory insufficiency, Dyspnea, Optic neuropathy, Death in... OMIM:610505
Histiocytoid Cardiomyopathy
Optic atrophy, Hydrocephalus, Agenesis of corpus callosum, Tachypnea, Cyanosis ORPHA:137675
Ethylmalonic Encephalopathy
Petechiae, Retinal vascular tortuosity, Acrocyanosis ORPHA:51188
Peripartum Cardiomyopathy
Exertional dyspnea, Dyspnea, Orthopnea, Paroxysmal dyspnea, Respiratory failure ORPHA:563
Mercury Poisoning
Respiratory failure, Dyspnea, Respiratory distress ORPHA:330021
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Respiratory distress OMIM:620011
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Apnea, Neonatal respiratory distress,... OMIM:618426
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy OMIM:609015
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress 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
Absent inner and outer dynein arms, Nasal polyposis, Respiratory distress OMIM:606763
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Convex nasal ridge, Depressed nasal bridge ORPHA:3015
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Tachypnea, Cy... ORPHA:555874
Choanal Atresia
Cyanosis, Nasal congestion, Respiratory distress ORPHA:137914
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea 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
Prolonged neonatal jaundice, Depressed nasal bridge, Respiratory distress ORPHA:226313
Idiopathic Pulmonary Hemosiderosis
Respiratory failure, Dyspnea ORPHA:99931
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Hypoxemia, Tachypnea, Neonatal respiratory distress, Oxygen desaturation on... OMIM:610978
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Exertional dyspnea, Acrocyanosis ORPHA:2032
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Kniest Dysplasia
Retinal detachment, Depressed nasal bridge, Respiratory distress OMIM:156550
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Ramos-Arroyo Syndrome
Deviated nasal septum, Respiratory distress, Absent retinal pigment epithelium, Anteverted nares,... ORPHA:1051
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Congenital Heart Block
Cyanosis ORPHA:60041
Gaucher Disease, Perinatal Lethal
Short nose, Purpura, Respiratory distress, Petechiae, Anteverted nares, Apnea, Neonatal death, De... OMIM:608013
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Short nose, Respiratory distress, Anteverted nares, Apnea, Depressed nasal bridge ORPHA:314655
Slc35A1-Cdg
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Hypoplastic nasal tip, Wide nasal bridge ORPHA:3304
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Diaphanospondylodysostosis
Short nose, Respiratory distress, Respiratory insufficiency, Depressed nasal ridge, Depressed nas... 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
Hypoxemia, Respiratory distress ORPHA:2140
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Paucity of anterior horn mot... ORPHA:79139
Arterial Tortuosity Syndrome
Short nose, Respiratory distress, Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest,... ORPHA:3342
Moebius Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Respiratory distress OMIM:157900
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Death in childhood, Wide nose, Respiratory distress, Chorioretinal hypopigmentatio... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Short nose, Respiratory distress ORPHA:329178
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Respiratory distress, Wide nose, Recurrent upper respiratory tract infections OMIM:607143
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Vitreoretinopathy, Cervical myelopathy, Respiratory distress OMIM:183900
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Odontochondrodysplasia 1
Death in infancy, Respiratory distress, Delayed eruption of teeth OMIM:184260
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Neonatal death, Depressed nasal bridge, Respiratory distress OMIM:231680
Achondroplasia
Respiratory distress, Hydrocephalus, Death in infancy, Choanal stenosis, Depressed nasal bridge OMIM:100800
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress ORPHA:3392
Alfadhel Syndrome
Bulbous nose, Nasal flaring OMIM:620655
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Respiratory arrest, Apnea, Neonatal death, Respiratory failure, Hypopnea OMIM:617248
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy ORPHA:746
Proximal Spinal Muscular Atrophy
Hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal ... ORPHA:70
Pulmonary Alveolar Microlithiasis
Exertional dyspnea, Respiratory insufficiency, Dyspnea, Hypoxemia, Respiratory failure, Tachypnea... ORPHA:60025
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short nose, Respiratory distress, Choanal atresia, Depressed nasal bridge ORPHA:93260
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Chorioretinal hyperpigmentation, 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 failure requiring assisted ventilation, Respiratory distress, Respiratory insufficien... ORPHA:308552
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Cyanosis ORPHA:90051
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Optic neuropathy, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Dravet Syndrome
Cyanotic episode ORPHA:33069
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Respirato... OMIM:616037
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Prader-Willi Syndrome Due To Translocation
Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Respiratory distress, Anteverted... ORPHA:177907
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Respiratory failure, Death in childhood, Respiratory distress OMIM:620278
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Generalized abnormality of skin, Respiratory distress ORPHA:367
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Anteverted nares, Communicating hydrocephalus, Short nasal bridge, Wide nas... OMIM:618188
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus ORPHA:157846
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Multiple Mitochondrial Dysfunctions Syndrome 7
Respiratory failure requiring assisted ventilation, Anteverted nares, Apnea, Cyanosis OMIM:620423
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Respiratory distress, Respiratory insufficiency, Anteverted nares, Hydrocephalus, Per... ORPHA:536467
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Jaundice, Respiratory distress, Hydrocephalus, Abnormality of ma... ORPHA:79282
Farber Disease
Respiratory distress, Respiratory insufficiency, Macular degeneration, Cherry red spot of the mac... ORPHA:333
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Rhinitis, Recurren... OMIM:615444
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Anteverted nares, Death in infancy, Lateral ventricle dilatation, Respiratory failure, Depressed ... OMIM:300868
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Broad nasal tip, Wide nasal bridge, Underdeveloped nasal ... ORPHA:438216
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea ORPHA:803
Pai Syndrome
Nasal polyposis, Midline defect of the nose, Depressed nasal bridge, Encephalocele ORPHA:1993
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism, Partial agenesis of the corpus callosum... OMIM:610828
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Dyspnea, Palmoplantar cutis laxa, Prominent super... ORPHA:363705
Congenital Tracheomalacia
Intercostal retractions, Respiratory insufficiency, Dyspnea, Apnea, Recurrent upper respiratory t... ORPHA:95430
Cryptococcosis
Respiratory distress, Hydrocephalus, Dyspnea, Abnormal optic nerve morphology, Abnormal retinal m... ORPHA:1546
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Narrow nasal bridge OMIM:268320
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Nasolacrimal Duct Cyst
Deviated nasal septum, Intercostal retractions, Nasal congestion, Paroxysmal dyspnea, Episodic re... ORPHA:141083
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum ORPHA:314621
Pulmonary Arteriovenous Malformation
Dyspnea, Hypoxemia, Epistaxis, Cyanosis, Telangiectasia ORPHA:2038
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Depressed nasal bridge, Respiratory distress OMIM:151210
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Apnea, Cyanosis, Respiratory distress OMIM:261740
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Respiratory insufficiency, Neonatal re... ORPHA:98915
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis ORPHA:199241
Tuberous Sclerosis Complex
Retinal hamartoma, Generalized abnormality of skin, Respiratory distress, Chorioretinal hypopigme... ORPHA:805
Tarp Syndrome
Optic atrophy, Anteverted nares, Apnea, Cyanosis, Wide nasal bridge ORPHA:2886
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge ORPHA:896
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Respiratory insufficiency, Nasal polyposis, Urticaria, Cutis marmorata, Acrocyanosis ORPHA:183
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress ORPHA:411703
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure OMIM:613845
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Cyanosis, Total anosmia ORPHA:2326
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Apnea, Cyanosis OMIM:617239
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Rhinitis, Recurren... OMIM:614935
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Short nose, Respiratory distress, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:505248
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Short nose, Choanal atresia, Respiratory distress OMIM:610536
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Malignant Atrophic Papulosis
Respiratory failure, Telangiectasia of the skin, Abnormal optic nerve morphology ORPHA:679
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress ORPHA:142
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Choanal atresia, Prominent nose, Bulbous nose, Wide nasal bridge, Depressed... OMIM:300968
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Neonatal respiratory distress, Chronic rhinitis OMIM:617092
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Lethal Acantholytic Erosive Disorder
Respiratory failure, Natal tooth, Fragile skin ORPHA:158687
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
Midline defect of the nose, Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Absent ... ORPHA:1134
Scedosporiosis
Respiratory failure ORPHA:449280
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus OMIM:244400
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration ORPHA:31826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Undetectable electroretinogram, Decreased light- and dark-adapted electroretinogram amplitude, My... OMIM:253280
Bloom Syndrome
Cutaneous photosensitivity, Retinopathy, Rhinitis, Respiratory failure, Telangiectasia ORPHA:125
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Anteverted nares, Depressed nasal bridge ORPHA:254528
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Abnormal axonemal organization of respiratory mot... OMIM:613808
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Jaundice, Episodic tachypnea, Respiratory distress ORPHA:26793
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Microlissencephaly-Micromelia Syndrome
Short nose, Respiratory distress ORPHA:50810
Oromandibular Dystonia
Abnormality of the nose, Respiratory distress ORPHA:93958
N-Acetylglutamate Synthase Deficiency
Tachypnea, Respiratory distress OMIM:237310
Pitt-Hopkins Syndrome
Anteverted nares, Failure of eruption of permanent teeth, Prominent nasal bridge, Triangular nasa... ORPHA:2896
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Respiratory distress, Respiratory insufficiency, Orthopnea, Respiratory insuf... ORPHA:365
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure, Prominent nasal bridge, Prominent nose, Convex n... ORPHA:647
Riddle Syndrome
Neonatal asphyxia, Conjunctival telangiectasia, Recurrent sinusitis, Respiratory failure, Erythem... ORPHA:420741
Complete Atrioventricular Septal Defect
Tachypnea, Cyanosis, Intercostal retractions ORPHA:1329
Cardiogenic Shock
Orthopnea, Hypoxemia, Cyanosis, Dyspnea ORPHA:97292
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Exertional dyspnea, 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
Purpura, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Abetalipoproteinemia
Respiratory failure, Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-con... ORPHA:14
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Hydranencephaly
Atrophic pituitary gland, Thalamic edema, Dysgenesis of the thalamus ORPHA:2177
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Increased circulating prol... 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
Episodic respiratory distress, Cyanosis, Choanal atresia, Respiratory distress ORPHA:1199
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Dyspnea, Epistaxis, Ecchymosis, Respiratory failure ORPHA:340
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
3-Methylglutaconic Aciduria, Type Viib
Bulbous nose, Respiratory distress OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Listeriosis
Respiratory failure, Miscarriage, Jaundice, Respiratory distress ORPHA:533
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Dysplastic corpus callosum, Short nose, Optic nerve hypoplasia, Lateral ventricle ... ORPHA:500150
Poems Syndrome
Plethora, Papilledema, Respiratory insufficiency due to muscle weakness, Acrocyanosis ORPHA:2905
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinopathy, Cutis marmorata, Acro... OMIM:259900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, S... OMIM:600376
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Hypercapnia, Dyspnea ORPHA:79138
Heterotaxy, Visceral, 1, X-Linked