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,  Hfh9,  Hfhbf1,  Bf1,  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.

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
Tritanopia
Color vision defect, Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram OMIM:190900
Occult Macular Dystrophy
Slow decrease in visual acuity, Abnormal multifocal electroretinogram OMIM:613587
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram, Visual impairment, Reduced visual acuity OMIM:153700
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Retinal atrophy, Cerebral atrophy, Ataxia, Wide nasal bridge, Respiratory insufficiency, R... OMIM:610127
Usher Syndrome, Type I
Visual loss, Undetectable electroretinogram OMIM:276900
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
X-Linked Retinoschisis
Abnormality of vision, Abnormal electroretinogram ORPHA:792
Choroideremia
Nyctalopia, Abnormality of vision, Myopia, Abnormal electroretinogram, Progressive visual loss, V... ORPHA:180
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment, Abnormal electroretinogram ORPHA:1871
Leber Congenital Amaurosis 5
Visual loss, Hypermetropia, Visual impairment, Undetectable electroretinogram, High hypermetropia OMIM:604537
Sorsby Fundus Dystrophy
Blindness, Abnormal electroretinogram OMIM:136900
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Reduced visual acuity OMIM:618195
Retinitis Pigmentosa 39
Visual field defect, Visual impairment, Abnormal electroretinogram OMIM:613809
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Abnormality of pattern visual evoked potentials, Redu... ORPHA:357225
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Recurrent subcortical infarcts, Abnormal electroretinogram, Leukoencephalopathy, Abn... OMIM:125310
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
Blue Cone Monochromatism
Photophobia, Abnormal electroretinogram, Visual impairment, Blue cone monochromacy ORPHA:16
Optic Atrophy 8
Central scotoma, Visual loss, Visual impairment, Abnormality of pattern visual evoked potentials OMIM:616648
Pyknoachondrogenesis
Stillbirth OMIM:265880
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Progressive microcephaly, Abnormality of visual evoked potentials OMIM:609304
Oligocone Trichromacy
Photophobia, Abnormal electroretinogram ORPHA:75378
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram OMIM:165510
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Color vision defect, Abnormality of visual ev... ORPHA:827
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Progressive visual loss, Abnormal electroretinogram OMIM:180020
Retinitis Pigmentosa 31
Visual field defect, Abnormal electroretinogram OMIM:609923
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormal electroretinogram, Cerebral calcification, Visual impairment, Microcephaly, Abnormality ... ORPHA:1933
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Respiratory distress ORPHA:171703
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Mildly reduced visual acuity, Abnormal electroretinogram, Hypermetropia OMIM:268080
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Depressed nasal ridge, Microcepha... ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Aspiratio... OMIM:619057
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Color vision defect, Abnormal light- and dark... OMIM:612657
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... OMIM:616081
Ă…land Islands Eye Disease
Reduced visual acuity, Myopia, Difficulty adjusting from light to dark, Abnormal electroretinogra... ORPHA:178333
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Decreased light- and dark-adapted electroretinogram amplitude, Congenital st... OMIM:610445
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Retinal dysplasia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Respiratory distress, Hypoplasia of the corpus callosum, Cerebral atrophy, Mic... OMIM:618006
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Cone-Rod Dystrophy 13
Reduced visual acuity, Color vision defect, Visual impairment, Undetectable light- and dark-adapt... OMIM:608194
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Wide nasal bridge, ... ORPHA:168486
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram, Myopia, Congenital stationary night blindness, Reduced visual acuity OMIM:613216
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:125250
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Visual impairment, Abnormal electroretinogram ORPHA:1574
Perching Syndrome
Respiratory distress, Rod-cone dystrophy, Depressed nasal bridge OMIM:617055
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Myopia, Abnormal el... OMIM:616875
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Microcephaly, Abnormality of visual evoked potentials OMIM:617523
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Dystonia, Difficulty walking, Cerebral atrophy, Respiratory insufficiency due ... OMIM:611890
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Retinitis Pigmentosa 4
Blindness, Nyctalopia, Visual field defect, Abnormal electroretinogram OMIM:613731
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly, Death in childhood OMIM:302000
3-Methylglutaconic Aciduria, Type Viii
Apnea, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respirato... OMIM:617248
Congenital Stationary Night Blindness
Nyctalopia, Congenital stationary night blindness with normal fundus, Reduced visual acuity, Abno... ORPHA:215
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure, Ataxia OMIM:618637
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Respiratory failure, Dysmetria, Leukoencephalopathy, Opti... OMIM:618233
Bothnia Retinal Dystrophy
Nyctalopia, Abnormal electroretinogram OMIM:607475
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Cerebral visual impairment, Visual impairment,... ORPHA:52368
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Progressive visual loss, Undetectable electroretinogram OMIM:204500
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Short nose, Respiratory distress, Death in infancy, Neonatal respi... OMIM:615042
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Death in infancy, Respiratory distress OMIM:604377
Retinitis Pigmentosa 54
Nyctalopia, Visual impairment, Abnormal electroretinogram OMIM:613428
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Cerebral cor... OMIM:618291
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent respiratory infections, Retinal degeneration, Rod-... OMIM:615993
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Corpus callosum atrophy, Reduced visual acuity, Cerebral atrophy, Myopia, Blindness,... ORPHA:168491
Oculocutaneous Albinism Type 1
Amblyopia, Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:352731
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Cyanosis, Progressive microcephaly ORPHA:71277
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ga... OMIM:615838
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:90117
Severe X-Linked Mitochondrial Encephalomyopathy
Abnormal corpus striatum morphology, Respiratory distress, Respiratory insufficiency ORPHA:238329
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:2971
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevat... OMIM:610978
Leigh Syndrome
Dystonia, Focal substantia nigra T2 hyperintensity, Pigmentary retinopathy, Ataxia, Respiratory i... OMIM:256000
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Microcephaly, Abnormality of visual evoked potentials OMIM:614457
White-Sutton Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Myopia, Abnormal electroretinogram, Cerebral... OMIM:616364
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Usher Syndrome Type 1
Nyctalopia, Visual loss, Scotoma, Abnormal electroretinogram, Subcortical cerebral atrophy, Cereb... ORPHA:231169
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormal electrooculogram OMIM:179840
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Microcephaly, Optic atrophy ORPHA:26792
Leber Congenital Amaurosis 7
Photophobia, Visual impairment, Undetectable electroretinogram OMIM:613829
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Respiratory failure, Death in infancy OMIM:225753
Krabbe Disease
Blindness, Diffuse cerebral atrophy, Abnormal flash visual evoked potentials OMIM:245200
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... ORPHA:1215
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Cerebral atrophy, Abnormality of visual evoked potentials OMIM:256600
Retinitis Pigmentosa 7
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness, Abnormal electr... OMIM:608133
Cln5 Disease
Corpus callosum atrophy, Cerebral cortical atrophy, Visual impairment, Periventricular white matt... ORPHA:228360
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, ... ORPHA:266
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Abnormal electroretinogram, Constriction of peripheral visual ... OMIM:601718
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive visual loss, Undetectable visual evoked potentials, Constriction of peripheral visual... ORPHA:436245
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Hypoplasia of the corpus callosum, Abnormal re... ORPHA:89844
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Central scotoma, Abnormality of visual evoked potentials, Slow decrease in v... OMIM:601152
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Retinitis Pigmentosa 44
Constriction of peripheral visual field, Visual impairment, Decreased light- and dark-adapted ele... OMIM:613769
Leber Congenital Amaurosis 14
Nyctalopia, Decreased light- and dark-adapted electroretinogram amplitude, Reduced visual acuity,... OMIM:613341
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Undetectable electroretinogram, Abnormality of pattern... ORPHA:1947
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Cerebral atrophy, Myopia, Cerebral visual impairment, Progressive microc... ORPHA:480898
Ataxia With Vitamin E Deficiency
Nyctalopia, Abnormality of visual evoked potentials, Visual impairment ORPHA:96
Leber Congenital Amaurosis 8
Undetectable electroretinogram, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Microcephaly, Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Leber Congenital Amaurosis 6
Photophobia, Undetectable electroretinogram, High hypermetropia, Severely reduced visual acuity OMIM:613826
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Developmental And Epileptic Encephalopathy 28
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal electroretinogram, Microcephaly, Pr... OMIM:616211
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Visual impairment, Abnormal electroretinogram ORPHA:2246
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia, Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:614299
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Visual impairment, Secondary microcephaly, Abnormality of... ORPHA:485421
Retinitis Pigmentosa 27
Blindness, Nyctalopia, Visual impairment, Undetectable electroretinogram OMIM:613750
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Abnormal electroretinogram, C... OMIM:120970
Bothnia Retinal Dystrophy
Nyctalopia, Abnormal dark-adapted electroretinogram, Central scotoma, Visual field defect, Color ... ORPHA:85128
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Lethargy, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, P... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... OMIM:245400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Bulbous nose, Ataxia, Basal ganglia calcification, Respiratory failure, Dysmetria, S... OMIM:616505
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Xq12-Q13.3 Duplication Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Abnormality of visual evoked potentials, Abnorma... ORPHA:314389
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Inspiratory stridor, Ataxia, Cyanosis, Myelomeningocele, Agenesis of... OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Undetectable light- and dark-adapted... OMIM:180100
Combined Oxidative Phosphorylation Deficiency 37
Retinal degeneration, Respiratory insufficiency, Respiratory failure, Secondary microcephaly, Opt... OMIM:618329
Retinitis Pigmentosa 50
Nyctalopia, Abnormal electroretinogram, Reduced visual acuity OMIM:613194
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Exertional dyspnea, Small basal ganglia, Lim... ORPHA:621
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean, Respirato... ORPHA:254875
Ceroid Lipofuscinosis, Neuronal, 1
Decreased light- and dark-adapted electroretinogram amplitude, Cerebral atrophy, Blindness, Progr... OMIM:256730
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cerebral atrophy, Ataxia, Respiratory failure, Limb dystonia, Hyperactivity, Reduced... ORPHA:363400
Infantile Neuroaxonal Dystrophy
Iron accumulation in globus pallidus, Blindness, Abnormal cerebral white matter morphology, Abnor... ORPHA:35069
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Abnormal light-adapted electroretinogram OMIM:304030
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Peho Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Undetectable visual evoked potenti... OMIM:260565
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Late-Infantile/Juvenile Krabbe Disease
Blindness, Visual loss, Abnormality of visual evoked potentials, Visual impairment ORPHA:206443
Mohr-Tranebjaerg Syndrome
Reduced visual acuity, Myopia, Abnormal electroretinogram, Cerebral visual impairment, Constricti... OMIM:304700
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Tachypnea, Abnormal pulmonary arter... ORPHA:2257
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Abnormal cerebral cortex morphology ORPHA:163961
Hsd10 Disease, Infantile Type
Dystonia, Cerebral atrophy, Loss of ability to walk, Retinal degeneration, Frontotemporal cerebra... ORPHA:391428
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Friedreich Ataxia
Visual field defect, Abnormality of visual evoked potentials, Visual impairment, Reduced visual a... OMIM:229300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia, Decreased response... OMIM:245590
Usher Syndrome Type 3
Nyctalopia, Visual loss, Scotoma, Abnormal electroretinogram, High hypermetropia, Hemianopia ORPHA:231183
Agnathia-Otocephaly Complex
Respiratory distress, Laryngeal hypoplasia, Holoprosencephaly, Tracheomalacia, Hypoplasia of the ... OMIM:202650
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Arnold-Chiari Malformation Type Ii
Apnea, Hydrocephalus, Difficulty walking, Inspiratory stridor, Pneumonia, Aqueductal stenosis, At... ORPHA:1136
Micro Syndrome
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Cerebral visual... ORPHA:2510
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Ruvalcaba Syndrome
Microcephaly, Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Respiratory failure, Respiratory insufficiency OMIM:605711
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Dystonia, Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral whit... OMIM:614407
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Rod-co... ORPHA:244
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Cone-Rod Dystrophy, X-Linked, 3
Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Abnormal light- and dark-ada... OMIM:300476
Gaucher Disease Type 2
Dystonia, Respiratory distress, Cough, Abnormal pattern of respiration, Recurrent respiratory inf... ORPHA:77260
Congenital Disorder Of Glycosylation, Type Ie
Abnormal macular morphology, Respiratory distress, Ataxia, Secondary microcephaly, Optic atrophy,... OMIM:608799
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Undetectable electroretinogram OMIM:615780
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Difficulty walking, Respiratory insufficiency due to muscle weakness, Respirat... ORPHA:2590
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Microcephaly, Respiratory distress OMIM:300934
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Malaria
Retinopathy, Gait imbalance, Respiratory distress ORPHA:673
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Petechiae, Abnormal basal ganglia MRI signal intensity, Retinal vascular to... ORPHA:51188
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Glutamine Deficiency, Congenital
Apnea, Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Erythema, Neonatal respi... OMIM:610015
Infantile Krabbe Disease
Visual loss, Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter... ORPHA:206436
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Cyanosis, Strido... ORPHA:444013
Encephalopathy, Ethylmalonic
Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Ataxia, Petechiae, Abnormal retinal vas... OMIM:602473
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Leukoencephalopathy, Optic atrophy,... OMIM:618226
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Dystonia, Cerebral atrophy, Respiratory insufficiency, Death in childhood, Ce... OMIM:610333
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Undetectable electroretinogram, Reduced visual acuity OMIM:609913
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Visual loss, Undetectable visual evoked potentials, Cerebral visual impairment OMIM:619051
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Ataxia, Laryngeal stridor, Macrogyria, Respiratory failure... ORPHA:280210
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Ataxia, Respiratory failure, Leukoencephalopathy, Cerebral edema OMIM:617186
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Microcephaly, Cerebral atrophy, Respiratory distress, Ataxia OMIM:618426
Mercury Poisoning
Dystonia, Dyspnea, Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter... ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Respiratory insuffi... OMIM:613153
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Retinal dystrophy, Polymicrogyria, Respiratory failure, Agyria... OMIM:616538
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory failure, Microcephaly,... OMIM:609981
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Cavum septum pellucidum, Gait ataxia, Short nose, Respiratory distress, Hypopl... OMIM:619383
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis, Stridor OMIM:150260
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy, Optic atrophy OMIM:261680
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Respiratory failure, Microcephaly, Optic atrophy, Hydrocephalus, Op... OMIM:259720
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Aplasia/Hypoplasia involving the nose, Agenesis of corpu... ORPHA:990
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Gait disturbance, Bradykinesia, Progressive cerebellar ataxia, Resp... ORPHA:98755
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Abnormality of visual evoked potentials, Reduced v... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Abnormality of visual evoked potentials, Reduced v... ORPHA:309263
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Leigh Syndrome With Nephrotic Syndrome
Focal T2 hyperintense basal ganglia lesion, Undetectable visual evoked potentials, Cerebral visua... ORPHA:255249
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopia, Abnormal electroretinogram ORPHA:1369
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Abnormality of visual evoked potentials, Cerebral visual impairment, Cerebral cortic... OMIM:203700
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Optic atrophy, Death in childhood, Respiratory distress OMIM:615597
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Focal T2 hyperintense thalamic lesi... ORPHA:79264
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, H... ORPHA:1164
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in infancy, Neonatal death, Respiratory failure, Death in childhood OMIM:619334
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Ataxia, Depressed nasal ridge ORPHA:1861
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Microcephaly, Bulbous nose, Wide nasal bridge ORPHA:261304
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Abnormality of the optic nerve, Respiratory failure, Choroideremia... ORPHA:2707
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Dystonia, Agenesis of corpus callosum, Respiratory distress, Pulmonary f... ORPHA:209905
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect, Abnormal electroretinogram, Abnormality of pattern visual evoked... ORPHA:166035
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus OMIM:276950
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Dilation of lateral vent... ORPHA:488627
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Abnormal electroretinogram ORPHA:2743
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypoplasia of the corpus callosum, Respiratory failure, Microcephaly, Optic atrophy, Antev... OMIM:617301
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Lethargy, Bulbous nose, Respiratory distress, Intracerebral periventr... OMIM:608836
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Cough, Waddling gait, Microcephaly ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Dilation of lateral ventricles ORPHA:135
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Respiratory distress, Bradykinesia ORPHA:240085
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Microcephaly, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Choanal Atresia
Respiratory distress, Nasal congestion, Abnormal nasal mucus secretion, Tracheomalacia, Laryngoma... ORPHA:137914
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Secondary microcephaly, Polymicrogyria, Microcephaly, Undetect... OMIM:614225
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Tetrasomy 5P
Short nose, Hydrocephalus, Respiratory distress, Lipoma of corpus callosum, Wide nasal bridge, Pu... ORPHA:3309
Usher Syndrome Type 2
Nyctalopia, Visual loss, Scotoma, Myopia, Abnormal electroretinogram, Subcortical cerebral atroph... ORPHA:231178
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Respiratory distress, Choanal stenosis, Palmoplantar cutis laxa, Cho... OMIM:123790
Stt3B-Cdg
Microcephaly, Optic atrophy, Respiratory distress ORPHA:370924
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis, Microcephaly, Narrow nasal bridge ORPHA:896
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Respiratory distress, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Snakebite Envenomation
Epistaxis, Hypopituitarism, Erythema, Respiratory paralysis, Respiratory failure, Angioedema, Ecc... ORPHA:449285
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, High myopia, Abnormal light- and dark-adapted electroretinogra... OMIM:613464
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Lethargy, Death in infancy OMIM:619386
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Respiratory distress ORPHA:2596
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Cerebral white matter atrophy, Short nose, Abnormal periventricular white matter morphology, Resp... ORPHA:329178
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Cerebral cortical atrophy, Respirato... ORPHA:1194
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Pigmentary retinopathy, Exertional dyspnea, Ataxia, Respiratory insufficien... OMIM:220110
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Polymicrogyria, Respiratory failure, Death in infancy OMIM:610678
Sandestig-Stefanova Syndrome
Convex nasal ridge, Hypoplasia of the corpus callosum, Wide nasal bridge, Primary microcephaly, R... OMIM:618804
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Optic neuritis ORPHA:71211
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Riddle Syndrome
Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Pulmonary fibrosi... ORPHA:420741
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hormone concentration, Resp... ORPHA:226313
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Polymicrogyria, Decreased thalamic vol... ORPHA:370959
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Abnormal thalamic M... ORPHA:254930
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Di... ORPHA:590
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Di... ORPHA:98914
Achalasia-Addisonianism-Alacrima Syndrome
Microcephaly, Abnormality of visual evoked potentials OMIM:231550
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Metachromatic Leukodystrophy, Adult Form
Punctate periventricular T2 hyperintense foci, Abnormality of visual evoked potentials, Reduced v... ORPHA:309271
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal periventricular white matter morphology, Respiratory insufficiency, Respiratory distress ORPHA:1145
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Nasal congestion, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, ... OMIM:616037
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Niemann-Pick Disease, Type C2
Dystonia, Neurofibrillary tangles, Ataxia, Respiratory insufficiency, Prolonged neonatal jaundice... OMIM:607625
Acute Zonal Occult Outer Retinopathy
Visual loss, Photopsia, Reduced visual acuity, Central scotoma, Visual field defect, Scotoma, Myo... ORPHA:284454
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Chitayat Syndrome
Respiratory distress, Short columella, Tracheomalacia, Abnormal pulmonary interstitial morphology... OMIM:617180
Intermediate Nemaline Myopathy
Difficulty walking, Respiratory failure ORPHA:171433
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Dystonia, Purpura, Cerebral atrophy, Microcephaly, Prolonged neonatal jaundice, Bas... OMIM:225750
Multiple Carboxylase Deficiency
Lethargy, Respiratory distress, Ataxia, Tachypnea, Optic atrophy ORPHA:148
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Visual impairment, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Respiratory distress, Chorioretinal hypopigmentation, Recurrent bronchopulmona... OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Rod-cone dystrophy, Respiratory insufficiency OMIM:618247
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Metachromatic Leukodystrophy
Periventricular leukomalacia, Hyperintensity of cerebral white matter on MRI, Abnormality of visu... ORPHA:512
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Respiratory distress, Underdeveloped nasal alae, Ataxia, Wide nasal bridge, Broad nasal... ORPHA:438216
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Short nose, Death in infancy, Depressed nasal br... ORPHA:166272
Succinic Acidemia
Respiratory distress OMIM:600335
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Abnormal retinal morphology, Cough, Pneumonia, N... ORPHA:1546
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Hypoplasia of the corpus callosum, Respiratory failure requiring assisted ventilation, ... ORPHA:496641
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Respiratory distress, Aspiration, Retinal pigment epithelial mottling, Uns... OMIM:618733
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Optic atrophy, Lethargy, Respiratory distress ORPHA:289916
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Laryngotracheal stenosis, Cough, Upper airway obstruction, Neoplas... ORPHA:142
Retinitis Pigmentosa
Progressive night blindness, Abnormal electroretinogram, Blindness, Visual impairment, Photophobia ORPHA:791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Hypoplasia of the corpus callosum, Microcephaly, Narrow nasal b... ORPHA:544503
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Respiratory distress, Pigmentary retinopathy, Cerebral atrophy, Pulmonary arterial hype... ORPHA:79282
Oromandibular Dystonia
Respiratory distress, Abnormality of the nose, Blepharospasm, Lingual dystonia, Laryngeal dystoni... ORPHA:93958
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Hypoplasia of the corpus callosum, Undetectable visual evoked potentials ORPHA:423479
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Bradykinesia, Respiratory insufficiency, Abnormal substantia nigra mo... ORPHA:289560
Spinocerebellar Ataxia, X-Linked 3
Lethargy, Episodic respiratory distress, Death in infancy, Dysmetria, Episodic hypoventilation, O... OMIM:301790
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal... OMIM:231680
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Ataxia, Respiratory insufficiency, Respiratory failure, Leukoencephalopathy, Optic neur... OMIM:252010
Retinitis Pigmentosa 43
Nyctalopia, Peripheral visual field loss, Visual impairment, Abnormal electroretinogram OMIM:613810
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy, Respiratory failure, Akinesia OMIM:607598
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Respiratory distress OMIM:618201
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Sudden episodic apnea, Respiratory insufficiency, Microcephaly, Cyanosis ORPHA:159
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Deafness-Lymphedema-Leukemia Syndrome
Abnormality of the optic nerve, Respiratory failure, Bruising susceptibility, Recurrent respirato... ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Optic atrophy, Lethargy, Respiratory distress ORPHA:79312
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Agenes... OMIM:156810
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Microcephaly ORPHA:2959
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Tuberous Sclerosis Complex
Respiratory tract infection, Retinal astrocytic hamartoma, Generalized abnormality of skin, Hyper... ORPHA:805
Diaphanospondylodysostosis
Short nose, Respiratory distress, Tracheomalacia, Respiratory insufficiency, Polymicrogyria, Pulm... OMIM:608022
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Vitritis, Dyspnea, Chorioretinal dysplasia, Hydrocephalus, A... ORPHA:2556
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Dystonia, Hypoplasia of the corpus callosum, Diffuse ... ORPHA:506
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Retinitis Pigmentosa 58
Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Peripheral visual field loss, Sev... OMIM:613617
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Pachygyria, Abnormality of visual evoked potentials, Lissencephaly ORPHA:258
Histiocytoid Cardiomyopathy
Lethargy, Hydrocephalus, Cough, Laryngeal web, Pulmonary edema, Tachypnea, Cyanosis, Optic atroph... ORPHA:137675
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Nasal polyposis, Gait disturbance, Cough, Recu... ORPHA:183
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Difficulty walking, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Lethargy, Respiratory distress, Ataxia ORPHA:927
Retinitis Pigmentosa 14
Nyctalopia, Undetectable electroretinogram, Constriction of peripheral visual field, Reduced visu... OMIM:600132
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Gaucher Disease, Perinatal Lethal
Apnea, Short nose, Akinesia, Purpura, Respiratory distress, Desquamation of skin soon after birth... OMIM:608013
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
N-Acetylglutamate Synthase Deficiency
Lethargy, Respiratory distress OMIM:237310
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia, Retinal detachment, Depressed nasal bridge OMIM:156550
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Respiratory distress, Cerebral atrophy, Cerebral cortical atrophy, Pulmo... OMIM:619272
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Pn... ORPHA:445038
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode, Dysgenesis of the hippocampus, Bradykinesia ORPHA:33069
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Ataxia, Respiratory insufficiency, Stridor, Recurrent respiratory ... OMIM:211530
Intellectual Developmental Disorder With Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Van Den Bosch Syndrome
High myopia, Abnormal electroretinogram ORPHA:3417
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Short nose, Lissencephaly, Respiratory distress ORPHA:50810
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cockayne Syndrome B
Cerebral atrophy, Subcortical white matter calcifications, Basal ganglia calcification, Hypermetr... OMIM:133540
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Cockayne Syndrome A
Cerebral atrophy, Basal ganglia calcification, Hypermetropia, Microcephaly, Abnormality of visual... OMIM:216400
Leber Congenital Amaurosis
Abnormal electroretinogram, Severely reduced visual acuity ORPHA:65
Holocarboxylase Synthetase Deficiency
Lethargy, Respiratory distress, Ataxia, Desquamation of skin soon after birth, Tachypnea ORPHA:79242
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Diffuse cerebral atrophy, Respiratory failure ORPHA:3240
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Ramos-Arroyo Syndrome
Deviated nasal septum, Respiratory distress, Choanal stenosis, Chorioretinal atrophy, Concave nas... ORPHA:1051
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Myotonic Dystrophy 1
Cerebral atrophy, Respiratory distress OMIM:160900
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Myopia, Abnormal electroretinogram ORPHA:1390
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Proximal Spinal Muscular Atrophy
Inability to walk, Restrictive ventilatory defect, Hypoventilation, Difficulty walking, Respirato... ORPHA:70
Breath-Holding Spells
Cyanosis OMIM:607578
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Pitt-Hopkins Syndrome
Acrocyanosis, Failure of eruption of permanent teeth, Gait ataxia, Aplasia/Hypoplasia of the corp... ORPHA:2896
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Respiratory failure, Pigmentary retinopathy, Respiratory insufficiency OMIM:609015
Tarp Syndrome
Apnea, Wide nasal bridge, Abnormal corpus callosum morphology, Pulmonary hypoplasia, Cyanosis, Op... ORPHA:2886
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field, Undetectable electroretinogram OMIM:602772
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Hemothorax, Cough, Epistaxis, Pleural empyema, Hypoxemia, Hemoptys... ORPHA:2038
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Visual impairment, Abnormal electroretinogram ORPHA:1154
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Abnormality of retinal pigmentation, Stridor, Short nose, Respiratory distress... ORPHA:505248
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor OMIM:604320
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Microcephaly, Hypoplastic nasal tip, Cyanosis, Wide nasal bridge ORPHA:3304
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Laryngospasm, Abnormal respiratory system physiology ORPHA:803
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Microcephaly, Pneumonia ORPHA:1867
Ethylene Glycol Poisoning
Episodic respiratory distress, Ataxia, Pulmonary edema, Abnormal pattern of respiration, Tachypne... ORPHA:31826
Pfeiffer Syndrome Type 2
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Aqueductal ste... ORPHA:93259
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis, Aspirin-induced asthma, Asthma OMIM:208550
Aceruloplasminemia
Abnormal corpus striatum morphology, Abnormal thalamic MRI signal intensity ORPHA:48818
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Muscular Dystrophy, Duchenne Type
Respiratory failure, Waddling gait, Respiratory insufficiency, Hypoventilation OMIM:310200
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Respiratory distress, Choanal atresia, Microcephaly, Progressive mi... OMIM:610536
Cerebrotendinous Xanthomatosis
Abnormal globus pallidus morphology, Hyperintensity of cerebral white matter on MRI, Abnormality ... ORPHA:909
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Pigmentary retinopathy, Toe walking, Respiratory insufficiency, Respiratory failure ORPHA:746
Combined Oxidative Phosphorylation Deficiency 3
Dystonia, Ataxia, Respiratory insufficiency, Death in childhood, Respiratory failure, Optic neuro... OMIM:610505
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Papilledema, Respiratory insuffic... ORPHA:2905
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Hereditary Cryohydrocytosis With Reduced Stomatin
Microcephaly, Decreased thalamic volume, Cerebral white matter hypoplasia, Intracerebral perivent... ORPHA:168577
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Respiratory... ORPHA:26791
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Nijmegen Breakage Syndrome
Convex nasal ridge, Cutaneous photosensitivity, Recurrent sinopulmonary infections, Prominent nos... ORPHA:647
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bulbous nose, Respiratory distress, Hypoplasia of the corpus callosum, Choanal atresia, Wide nasa... OMIM:300968
Vitreoretinopathy, Neovascular Inflammatory
Blindness, Abnormal electroretinogram OMIM:193235
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Short nose, Respiratory distress, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Choanal atresia, Optic atrophy, Anteverted nares, Hydrocephalus, Depressed ... ORPHA:1555
Usher Syndrome
Nyctalopia, Visual field defect, Myopia, Abnormal electroretinogram, Blindness, Cerebral cortical... ORPHA:886
Retinitis Pigmentosa 41
Nyctalopia, Undetectable electroretinogram, Peripheral visual field loss, Severely reduced visual... OMIM:612095
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Focal T2 hyperintense basal ganglia lesion, Dystonia, Gait ataxia, Dyspnea, Pigmentary ret... ORPHA:255210
Moebius Syndrome
Dysdiadochokinesis, Respiratory distress, Abnormal nasopharynx morphology, Gait disturbance, Depr... OMIM:157900
Complete Atrioventricular Septal Defect
Wheezing, Lethargy, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, ... ORPHA:1329
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Microcephaly, Respiratory failure, Hyperintensity of cerebral ... ORPHA:88618
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary... OMIM:242670
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Absent inner and outer ... OMIM:614935
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Unilateral Polymicrogyria
Apnea, Epistaxis, Cyanosis, Cortical dysplasia, Microcephaly, Pulmonary arteriovenous malformatio... ORPHA:268943
Radio-Renal Syndrome
Convex nasal ridge, Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chyloth... ORPHA:3015
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Anosmia, Pneumonia, Chron... OMIM:244400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:542323
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Nyctalopia, Myopia, Abnormal electroretinogram, Photophobia ORPHA:5
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Hypoxemia,... ORPHA:555874
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Odontochondrodysplasia 1
Delayed eruption of teeth, Respiratory distress, Death in infancy, Pulmonary hypoplasia, Recurren... OMIM:184260
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Absent inner and outer ... OMIM:615444
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Niemann-Pick Disease Type C
Dystonia, Abnormal lung morphology, Axial dystonia, Frontal cortical atrophy, Progressive gait at... ORPHA:646
Short Rib-Polydactyly Syndrome
Abnormal larynx morphology, Abnormal epiglottis morphology, Abnormal cerebral morphology, Respira... ORPHA:1505
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Anomal... ORPHA:141127
Prader-Willi Syndrome Due To Translocation
Short nose, Respiratory distress, Decreased response to growth hormone stimuation test, Narrow na... ORPHA:177907
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Midline defec... ORPHA:1993
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:602088
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hypoventilation, Cardiorespiratory arrest, Recurrent upper respiratory t... ORPHA:293987
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Pfeiffer Syndrome Type 3
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Aqueductal ste... ORPHA:93260
Biotinidase Deficiency
Apnea, Lethargy, Respiratory distress, Ataxia, Laryngeal stridor, Optic neuropathy, Optic atrophy... ORPHA:79241
Buerger Disease
Acrocyanosis ORPHA:36258
Farber Disease
Cherry red spot of the macula, Respiratory distress, Recurrent upper respiratory tract infections... ORPHA:333
Lipoid Proteinosis
Nasal polyposis, Recurrent respiratory infections, Cerebral calcification, Dystonia ORPHA:530
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microcephaly, Respiratory dis... ORPHA:2519
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Abn... ORPHA:1199
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Campomelic Dysplasia
Apnea, Respiratory distress, Tracheobronchomalacia, Depressed nasal ridge, Hydrocephalus, Depress... OMIM:114290
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Joubert Syndrome 21
Apnea, Dyspnea, Hypoplasia of the corpus callosum, Ataxia, Pulmonary hypoplasia, Single naris, Re... OMIM:615636
Renal Dysplasia-Limb Defects Syndrome
Convex nasal ridge, Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failu... OMIM:266910
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory distress, Bruising susceptibility, Trache... ORPHA:536467
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Respiratory failure, Hydrocephalus, Depressed nasal bridge OMIM:304120
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreas