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.

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
Abnormal light-adapted electroretinogram, Color vision defect, Tritanomaly, Dyschromatopsia OMIM:190900
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Slow decrease in visual acuity OMIM:613587
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Abnormal electroretinogram, Visual impairment OMIM:153700
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Usher Syndrome, Type I
Undetectable electroretinogram, Visual loss OMIM:276900
Optic Atrophy 1
Central scotoma, Visual impairment, Abnormal amplitude of pattern reversal visual evoked potentia... OMIM:165500
X-Linked Retinoschisis
Abnormality of vision, Abnormal electroretinogram ORPHA:792
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Decreased Arden ratio of electrooculogram OMIM:616151
Choroideremia
Myopia, Abnormality of vision, Progressive visual loss, Abnormal electroretinogram, Nyctalopia, V... ORPHA:180
Leber Congenital Amaurosis 5
Visual loss, High hypermetropia, Hypermetropia, Undetectable electroretinogram, Visual impairment OMIM:604537
Progressive Cone Dystrophy
Abnormal electroretinogram, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Respiratory failure, Cen... OMIM:611722
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, Abnormal electroretinogram, Visual impairment OMIM:613809
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Abnormality of pattern visual evoked potentials, Redu... ORPHA:357225
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology, Abnormal motor neuron morphology OMIM:613724
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials, Abnormal electroretinogram, Recurrent subco... OMIM:125310
Pyknoachondrogenesis
Stillbirth OMIM:265880
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Blue Cone Monochromatism
Abnormal electroretinogram, Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Progressive microcephaly, Abnormality of visual evoked potentials OMIM:609304
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory failure, Wide nasal bridge, Respiratory insufficiency, Microcephaly... OMIM:610127
Oligocone Trichromacy
Abnormal electroretinogram, Photophobia ORPHA:75378
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram OMIM:165510
Stargardt Disease
Central scotoma, Color vision defect, Abnormality of visual evoked potentials, Nyctalopia, Reduce... ORPHA:827
Retinitis Pigmentosa 31
Visual field defect, Abnormal electroretinogram OMIM:609923
Retinal Cone Dystrophy 1
Progressive visual loss, Abnormal electroretinogram, Color vision defect, Photophobia OMIM:180020
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Abnormality of visual evoked potentials, Microcephaly, Abnormal electrore... ORPHA:1933
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Respiratory distress, Primary microcephaly ORPHA:171703
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Hyp... OMIM:619072
Retinoschisis Of Fovea
Visual loss, Hypermetropia, Abnormal electroretinogram, Mildly reduced visual acuity, Nyctalopia OMIM:268080
Cone-Rod Dystrophy 12
Central scotoma, Color vision defect, Nyctalopia, Abnormal light- and dark-adapted electroretinog... OMIM:612657
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Cerebral cortical atrophy, Hypoplasia of the corp... OMIM:616081
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory failure, Dyspnea, Microcephaly, Respiratory distress, Antevert... ORPHA:1832
Ă…land Islands Eye Disease
Color vision defect, Myopia, Difficulty adjusting from light to dark, Abnormal electroretinogram,... ORPHA:178333
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Congenital stationary night blindness, Decreased light- and dark-adapted ele... OMIM:610445
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Respiratory failure, Focal T2 hyperintense thalamic lesion, Neonatal respirator... OMIM:619057
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
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Abnormality of the anterior commissure, Fusion of the left and right... OMIM:617542
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Hypermetropia, Myopia, Abnormality of visual evoked potentials, Abnormal electr... OMIM:616875
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Abnormal electroretinogram, Congenital stationary night blindness, Myopia OMIM:613216
Cone-Rod Dystrophy 13
Color vision defect, Undetectable light- and dark-adapted electroretinogram, Photophobia, Reduced... OMIM:608194
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormal electroretinogram, Visual impairment, Myopia ORPHA:1574
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Central scotoma, Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal sco... OMIM:125250
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
Retinitis Pigmentosa 4
Blindness, Visual field defect, Nyctalopia, Abnormal electroretinogram OMIM:613731
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Respiratory failure, Wide nasal bridge, Central sleep apnea, Microce... ORPHA:168486
Congenital Stationary Night Blindness
Color vision defect, Electronegative electroretinogram, Hypermetropia, Myopia, Congenital station... ORPHA:215
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Abnormal mucociliary cle... OMIM:619466
Perching Syndrome
Rod-cone dystrophy, Depressed nasal bridge, Respiratory distress OMIM:617055
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Nyctalopia OMIM:607475
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Caudate atrophy, Abnormality of visual evoked ... ORPHA:52368
Ceroid Lipofuscinosis, Neuronal, 2
Undetectable electroretinogram, Cerebral atrophy, Progressive visual loss OMIM:204500
Retinitis Pigmentosa 54
Abnormal electroretinogram, Nyctalopia, Visual impairment OMIM:613428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Cerebral cortical atrophy,... OMIM:618291
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Neuronal loss in basal ganglia, Basal ganglia gliosis, Respiratory distress OMIM:604377
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Anteverted nares, Microcephaly, Respiratory distress, Hypoplasia of the corpus ... OMIM:618006
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Respiratory distress, Secondary microcephaly, Neonatal respiratory... OMIM:615042
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Microcephaly, Pigmentary retinopathy, Cerebral cortical atrophy, Abnormal pe... ORPHA:370968
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Visual loss, Abnormal amplitude of flash visual evoked potentials, Myopia, Blin... ORPHA:168491
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Abnormal corpus striatum morphology, Respiratory distress ORPHA:238329
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Microcephaly, Abnormality of visual evoked potentials, High myopia OMIM:614457
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Respiratory failure, Hypoplasia of the corpus callosum, Apnea, Death in infancy... OMIM:617248
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Respiratory failure, Microcephaly, Hypoplasia of the corpus callosum, Respirato... OMIM:615330
Usher Syndrome Type 1
Visual loss, High hypermetropia, Abnormal electroretinogram, Cerebral cortical atrophy, Hemianopi... ORPHA:231169
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Abnormal electroretinogram, Myopia ORPHA:2971
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormal electrooculogram, Nyctalopia OMIM:179840
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Krabbe Disease
Blindness, Diffuse cerebral atrophy, Abnormal flash visual evoked potentials OMIM:245200
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Progressive visual loss, Constriction of peripheral visu... ORPHA:1215
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Respiratory failure, Microcephaly, Respiratory insufficiency due to muscle weak... OMIM:611890
Retinitis Pigmentosa 7
Abnormal electroretinogram, Nyctalopia, Adult-onset night blindness, Constriction of peripheral v... OMIM:608133
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Death in infancy, Respiratory failure OMIM:225753
Cln5 Disease
Abnormality of visual evoked potentials, Cerebral cortical atrophy, Corpus callosum atrophy, Peri... ORPHA:228360
Retinitis Pigmentosa 19
Abnormal electroretinogram, Reduced visual acuity, Nyctalopia, Constriction of peripheral visual ... OMIM:601718
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Leukoencephalopathy, Central hypoventilation, Optic atrophy OMIM:618233
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Progressive microcephaly, Microcephaly, Abnormal electroretinogram, Hypoplasia ... OMIM:616211
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive visual loss, Progressive night blindness, Constriction of peripheral visual field, Un... ORPHA:436245
Leber Congenital Amaurosis 14
Congenital blindness, Undetectable electroretinogram, Decreased light- and dark-adapted electrore... OMIM:613341
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Abnormal retinal morphology, Wide nasal brid... ORPHA:89844
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Visual loss, Visual impairment, Blindness, Progressive visual loss, Undetectable visual evoked po... OMIM:601338
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... OMIM:601152
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Visual loss, Abnormality of visual evoked potentials OMIM:256600
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral atrophy, Progressive microcephaly, Myopia, Abnormality of visual evoked potentials, Corp... ORPHA:480898
Leber Congenital Amaurosis 8
Undetectable electroretinogram, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Pelizaeus-Merzbacher Disease
Microcephaly, Abnormality of visual evoked potentials, Cerebral cortical atrophy, Visual impairment ORPHA:702
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:2246
Leber Congenital Amaurosis 6
Undetectable electroretinogram, Severely reduced visual acuity, High hypermetropia, Photophobia OMIM:613826
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Respiratory failure, Tachypnea, Cough, Re... OMIM:263000
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration, Respiratory distress OMIM:615993
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Leber Congenital Amaurosis 7
Undetectable electroretinogram, Photophobia, Visual impairment OMIM:613829
Retinitis Pigmentosa 27
Blindness, Undetectable electroretinogram, Nyctalopia, Visual impairment OMIM:613750
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Abnormal basal ganglia MRI signal intensity, Secondary m... ORPHA:485421
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Pigmentary retin... OMIM:256000
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Bothnia Retinal Dystrophy
Large central visual field defect, Central scotoma, Color vision defect, Ring scotoma, Electroneg... ORPHA:85128
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Abnormality of pattern visual evoked potentials, Hyperintensity of cerebral whi... ORPHA:1947
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Respiratory failure, Neonatal death, Death in childhood, Focal T2 hyperintense ... OMIM:245400
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Central scotoma, Color vision defect, Metamorphopsia, Bl... OMIM:120970
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Abnormality of thalamus morphology, Focal white matter lesions ORPHA:557003
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Xq12-Q13.3 Duplication Syndrome
Microcephaly, Abnormality of visual evoked potentials, Abnormal basal ganglia MRI signal intensit... ORPHA:314389
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Retinitis Pigmentosa 1
Nyctalopia, Undetectable light- and dark-adapted electroretinogram, Constriction of peripheral vi... OMIM:180100
Retinitis Pigmentosa 50
Abnormal electroretinogram, Nyctalopia, Reduced visual acuity OMIM:613194
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly, Central apnea ORPHA:71277
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Wide nasal bridge, Depressed nasal bridge, Respiratory insufficiency, Anteve... OMIM:313420
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Progressive microcephaly, Blindness, Progressive visual loss, Undetectable elec... OMIM:256730
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of visual evoked potentials, Iron accumulation in globus pallidus, Abnorma... ORPHA:35069
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Abnormal light-adapted electroretinogram OMIM:304030
Peho Syndrome
Progressive microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Undetect... OMIM:260565
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Respiratory distress ORPHA:26792
Late-Infantile/Juvenile Krabbe Disease
Blindness, Abnormality of visual evoked potentials, Visual loss, Visual impairment ORPHA:206443
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Respiratory failure, Optic disc pallor, Abnormal periventricular white matter m... OMIM:615838
Mohr-Tranebjaerg Syndrome
Myopia, Abnormal electroretinogram, Photophobia, Cerebral visual impairment, Reduced visual acuit... OMIM:304700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal cerebral cortex morphology, Undetectable visual evoked potentials ORPHA:163961
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Usher Syndrome Type 3
Visual loss, High hypermetropia, Abnormal electroretinogram, Hemianopia, Nyctalopia, Scotoma ORPHA:231183
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology ORPHA:88619
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Inspiratory stridor, Hydro... OMIM:207950
Ruvalcaba Syndrome
Microcephaly, Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Friedreich Ataxia
Visual field defect, Visual impairment, Abnormality of visual evoked potentials, Reduced visual a... OMIM:229300
Cone-Rod Dystrophy, X-Linked, 3
Central scotoma, Color vision defect, Visual impairment, Myopia, Photophobia, Abnormal light- and... OMIM:300476
Micro Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormality of visual evoked potentials, Microcephaly,... ORPHA:2510
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Retinitis Pigmentosa 69
Undetectable electroretinogram, Constriction of peripheral visual field OMIM:615780
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
White-Sutton Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Mild myopia, Hypermetropia, Myopia, Abnormal... OMIM:616364
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Respiratory distress, Hypoplasia of the corpus callosum OMIM:300934
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal cerebral morphology, Respiratory failure, Central sleep apnea, Obstructive sleep apnea, ... ORPHA:70472
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor, Abnormal basal ganglia MRI signal int... ORPHA:444013
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia of the olfactory bulb, Small b... ORPHA:300570
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cerebral visual impairment, Visual loss, Undetectable visual evoked potentials OMIM:619051
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure, Optic atrophy OMIM:614299
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Neuroferritinopathy
Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Caudate atrophy, Iron accu... ORPHA:157846
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Decreased response to growth hormone stimulation test, Concav... OMIM:245590
Infantile Krabbe Disease
Visual loss, Blindness, Abnormality of visual evoked potentials, Hypointensity of cerebral white ... ORPHA:206436
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79431
Retinitis Pigmentosa 32
Undetectable electroretinogram, Nyctalopia, Photophobia, Reduced visual acuity OMIM:609913
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Abnormality of pattern visual evoked potentials, Hyperinten... ORPHA:2822
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Depressed nasal ... ORPHA:284417
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Optic atrophy, Respiratory distress, Death in childhood OMIM:615597
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Retinal detachment, Death in childhood, Lissencephaly, Pachygyria, Hydrocephalus, Type II... OMIM:613153
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Respiratory failure, Myelopathy, Death in infancy, Leukoencephalopathy OMIM:617186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hydrocephalus, Respiratory failure, Hypoplasia of the corpus call... OMIM:616538
Hsd10 Disease, Infantile Type
Cyanosis, Cerebral atrophy, Abnormality of the basal ganglia, Retinal degeneration, Microcephaly,... ORPHA:391428
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Punctate periventricular T2 hyperintense foci, Reduced v... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Punctate periventricular T2 hyperintense foci, Reduced v... ORPHA:309263
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Leigh Syndrome With Nephrotic Syndrome
Cerebral visual impairment, Focal T2 hyperintense basal ganglia lesion, Undetectable visual evoke... ORPHA:255249
Glutamine Deficiency, Congenital
Erythema, Wide nasal bridge, Neonatal death, Depressed nasal bridge, Hypoplasia of the corpus cal... OMIM:610015
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Laryngeal Abductor Paralysis
Cyanosis, Microcephaly, Stridor OMIM:150260
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Cerebral cortical neurodegeneration, Visual loss, Abnormality of visu... OMIM:203700
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Depressed nasal bridge, Respiratory distress, Secondary... OMIM:608799
Hereditary Methemoglobinemia
Cyanosis, Temporal cortical atrophy, Microcephaly, Exertional dyspnea, Small basal ganglia, Front... ORPHA:621
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respira... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertensio... OMIM:265120
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, Cerebral cortical at... ORPHA:166035
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Cerebral atrophy, Apnea, Optic atrophy OMIM:261680
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Respiratory failure, Basal ganglia calcification, Anteverted nares, Optic atrophy OMIM:616505
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Dysgyria, Microcephaly, Dilation of lateral ventricles ORPHA:135
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Death in adolescence, Respiratory failure, Jaundice, Respiratory insufficiency ... OMIM:615512
Encephalopathy, Ethylmalonic
Petechiae, Focal T2 hyperintense basal ganglia lesion, Acrocyanosis, Death in infancy, Abnormal r... OMIM:602473
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morp... ORPHA:79264
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Nasal congestion, Respiratory failure, Nasal polyposis, Bro... ORPHA:244
Folinic Acid-Responsive Seizures
Apnea, Frontotemporal cerebral atrophy, Optic atrophy, Respiratory distress ORPHA:79097
Arnold-Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Pneumonia, Agenesis of corpus callosum, Partial agenesis of the corpu... ORPHA:1136
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, Mi... ORPHA:2257
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram, Myopia ORPHA:1369
Vacterl Association With Hydrocephalus
Respiratory failure, Hydrocephalus, Respiratory insufficiency, Aqueductal stenosis, Stillbirth OMIM:276950
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Malaria
Retinopathy, Respiratory distress ORPHA:673
Leigh Syndrome With Cardiomyopathy
Retinopathy, Abnormal caudate nucleus morphology, Basal ganglia gliosis, Respiratory failure, Abn... ORPHA:70474
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exerti... OMIM:610978
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Microcephaly, Exertional dyspnea OMIM:250800
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Respiratory failure, Caudate atrophy, Reduced subcutaneous adipose tissue ORPHA:363400
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Oculocerebrofacial Syndrome, Kaufman Type
Abnormality of the optic nerve, Chorioretinal dystrophy, Respiratory failure, Dyspnea, Microcepha... ORPHA:2707
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Respiratory failure OMIM:616867
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dyspnea ORPHA:352447
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, Respiratory dis... ORPHA:990
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram, Myopia ORPHA:2743
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Increased circulat... ORPHA:95512
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Intersti... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Polymicrogyria, Undetect... OMIM:614225
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, Red... ORPHA:98913
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Retinitis Pigmentosa 51
High myopia, Photophobia, Reduced visual acuity, Nyctalopia, Abnormal light- and dark-adapted ele... OMIM:613464
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Immunodeficiency 54
Microcephaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory failure OMIM:609981
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
Stt3B-Cdg
Microcephaly, Optic atrophy, Respiratory distress ORPHA:370924
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Respiratory distress ORPHA:261304
Usher Syndrome Type 2
Visual loss, Myopia, Abnormal electroretinogram, Cerebral cortical atrophy, Hemianopia, Subcortic... ORPHA:231178
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Microcephaly, Depressed nasal bridge, Hypoplasia of the corpus callosum, Apn... OMIM:617301
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Microcephaly, Cerebral atrophy, Respiratory distress OMIM:618426
Snakebite Envenomation
Ecchymosis, Angioedema, Hypopituitarism, Erythema, Respiratory failure, Respiratory paralysis, Ep... ORPHA:449285
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, Microcephaly, Cerebral cortical a... ORPHA:1194
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Respiratory failure ORPHA:71211
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials ORPHA:98755
Alg1-Cdg
Cerebral atrophy, Respiratory failure, Progressive microcephaly ORPHA:79327
Tetrasomy 5P
Cyanosis, Pericallosal lipoma, Wide nasal bridge, Pulmonary arterial hypertension, Respiratory di... ORPHA:3309
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effus... ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Death in infancy, Polymicrogyria, Respiratory failure OMIM:610678
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Retinal vascular tortuosity, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Anteverted nares, Broad columella, Cavum septum pellucidum, Wide nasal bridge, Narrow nasal bridg... OMIM:619383
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Palmoplantar cutis laxa, Choanal stenosis, Choanal atresia, Depresse... OMIM:123790
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Punctate periventricular T2 hyperintense foci, Reduced v... ORPHA:309271
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Hypoplastic hippocampus, Primary microcepha... ORPHA:2177
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of ... ORPHA:254930
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Microcephaly, Decreased thalamic volume, Type II lissencephaly, Poly... ORPHA:370959
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Wide nasal bridge, Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Progressive microcephaly, Microcephaly, Simplified gyral pattern, Prominent nose, Hypoplasia of t... OMIM:614407
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress, Abnormal cerebral w... ORPHA:330021
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure, Respiratory failure requiring assisted ventil... OMIM:310400
Achalasia-Addisonianism-Alacrima Syndrome
Microcephaly, Abnormality of visual evoked potentials OMIM:231550
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Wide nasal bridge, Choanal atresia, Dyspnea, Respiratory distress ORPHA:2759
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Tracheomalacia, Respiratory distress, Wide nose, Holoprosencephaly OMIM:202650
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Sandestig-Stefanova Syndrome
Respiratory failure, Convex nasal ridge, Wide nasal bridge, Primary microcephaly, Hypoplasia of t... OMIM:618804
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Undetectable visual evoked potentials ORPHA:79323
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Progressive microcephaly, Cerebral white matter atrophy, Abnormal periventricular white matter mo... ORPHA:329178
Acute Lung Injury
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Abnormal periventricular white matter morphology, Respiratory distress ORPHA:1145
Metachromatic Leukodystrophy
Hyperintensity of cerebral white matter on MRI, Abnormality of visual evoked potentials, Perivent... ORPHA:512
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress ORPHA:50251
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge ORPHA:1861
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hor... ORPHA:226313
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Blind-spot enlargment, Myopia, Photopsia, Blurred vision, Abnormal ... ORPHA:284454
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Cough, Dyspnea, Pulmonary arterial hypertension, Pleural empyema,... ORPHA:2038
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Basal ganglia calcification, Respiratory failure OMIM:135100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Pigmentary retinopathy, Respiratory insufficiency due to muscle weakness, Res... OMIM:220110
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory insufficiency, Respiratory failure OMIM:273730
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysplastic corpus callosum, Progressive microcephaly, Multifocal hyperintensity of cere... ORPHA:488627
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Nasal congestion, Bulbous nose, Respiratory fai... OMIM:608836
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Cough, Respiratory distress, Dyspnea ORPHA:86812
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Nasal p... OMIM:618695
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79430
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Succinic Acidemia
Respiratory distress OMIM:600335
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Waardenburg Syndrome Type 3
Tracheomalacia, Microcephaly, Narrow nasal bridge, Atelectasis, Acrocyanosis ORPHA:896
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Respiratory distress, Death in infancy, Short ... ORPHA:166272
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Cough, Dyspnea, Decreased DLCO OMIM:610910
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Hypointensity of cerebral white matter on MRI, ... ORPHA:83597
Retinitis Pigmentosa
Progressive night blindness, Blindness, Abnormal electroretinogram, Photophobia, Visual impairment ORPHA:791
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Microcephaly, Narrow nasal bridge, Respiratory distress, Hypoplasia of the corpus callosum, Short... ORPHA:544503
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Hypoplasia of the corpus callosum ORPHA:423479
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Pneumonia, Hypoxemia, Airway obstruction, Reduced fo... ORPHA:1303
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Respiratory failure, Microcephaly, Optic disc pallor, Hydrocephalus, Optic atro... OMIM:259720
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Upper airway obstruction, Respiratory d... ORPHA:137914
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Agenesis of corpus callosum, Respiratory distress, Hydrocephalus, Dilation of lat... OMIM:612863
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Absent inner and ... OMIM:606763
Japanese Encephalitis
Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substantia nigra morphology, Abnorm... ORPHA:79139
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcephaly, Abnormality of thalamus morphology ORPHA:2959
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Developmental And Epileptic Encephalopathy 68
Microcephaly, Cerebral cortical atrophy, Respiratory distress OMIM:618201
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Retinitis Pigmentosa 43
Abnormal electroretinogram, Nyctalopia, Peripheral visual field loss, Visual impairment OMIM:613810
Mogs-Cdg
Abnormality of visual evoked potentials, Hypoplasia of the corpus callosum ORPHA:79330
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Porencephalic cyst, Polymicrog... OMIM:156810
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:454836
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Agenesis of corpus callosum, Tracheomalacia, Microcephaly, Depressed nasal bridge, Respiratory di... OMIM:217980
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Cerebral edema, Focal T2 hypointense basal ganglia lesion, Optic neuropathy, Respirator... OMIM:252010
Retinitis Pigmentosa 14
Undetectable electroretinogram, Nyctalopia, Constriction of peripheral visual field, Reduced visu... OMIM:600132
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Recurrent pneumonia, Wide nasal bridge, Death in childhood, Microcephaly,... OMIM:617303
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Lissencephaly, Cerebral edema, Pachygyria, Abnormality of visual evoked potentials ORPHA:258
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Depressed nasal bridge, Pachygyria, Respiratory distress, Neonatal death OMIM:231680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction ORPHA:100057
Congenital Tracheomalacia
Cyanosis, Emphysema, Recurrent upper respiratory tract infections, Decreased peak expiratory flow... ORPHA:95430
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level ORPHA:70578
Van Den Bosch Syndrome
Abnormal electroretinogram, High myopia ORPHA:3417
Retinitis Pigmentosa 58
Peripheral visual field loss, Abnormal light- and dark-adapted electroretinogram, Severely reduce... OMIM:613617
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Microcephaly, Pulmonary arterial hypertension, Cerebral cortical atrophy, Corpu... OMIM:619272
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Asthma, C... OMIM:616037
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Vitritis, Retinal dystrophy, Agenesis of corpus callosum, Cho... ORPHA:2556
Cryptococcosis
Vitritis, Cerebral edema, Pneumonia, Abnormal retinal morphology, Abnormality of the optic nerve,... ORPHA:1546
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Agenesis of corpus callosum, Aspiration, Retinal pigment epithelial mottli... OMIM:618733
Intellectual Developmental Disorder With Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Neurofibrillary tangles, Prolonged neonatal jaundice, Respiratory failure OMIM:607625
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Cerebral atrophy, Retinal degeneration, Pulmonary embolism, Jaundice, Microcephaly... ORPHA:79282
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Agenesis of corpus callosum, Cavum septum pellucidum, Asthma, Respiratory fa... ORPHA:209905
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Subcortical white matter calcifications, Diffuse cerebral atrophy ORPHA:3240
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Bronchoconstriction, Nasal polyposis, Aspirin-induced asthma OMIM:208550
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Geleophysic Dysplasia 3
Pneumonia, Bulbous nose, Sleep apnea, Respiratory failure, Wide nasal bridge, Dyspnea, Depressed ... OMIM:617809
Myotonic Dystrophy 1
Cerebral atrophy, Respiratory distress OMIM:160900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Multifocal hyperintensit... ORPHA:308552
Diaphanospondylodysostosis
Tracheomalacia, Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Respiratory ... OMIM:608022
Breath-Holding Spells
Cyanosis OMIM:607578
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal electroretinogram, Nyctalopia, Myopia ORPHA:1390
Leber Congenital Amaurosis
Abnormal electroretinogram, Severely reduced visual acuity ORPHA:65
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Metatropic Dysplasia
Respiratory insufficiency, Depressed nasal bridge, Respiratory failure OMIM:156530
Retinitis Pigmentosa 25
Undetectable electroretinogram, Nyctalopia, Photophobia, Constriction of peripheral visual field OMIM:602772
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Abnormality of the basal ganglia, Respiratory failure, Primary microcephaly, Pn... ORPHA:445038
Congenital Myasthenic Syndrome
Cyanosis, Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, I... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, I... ORPHA:98914
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Fusion of the left and right thalami, Hypoplasia of the corpus callosum OMIM:619306
Malignant Atrophic Papulosis
Abnormality of the optic nerve, Respiratory failure, Pleural effusion, Telangiectasia of the skin... ORPHA:679
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Respiratory failure, Macrogyria ORPHA:280210
Cockayne Syndrome B
Cerebral atrophy, Hypermetropia, Abnormality of visual evoked potentials, Subcortical white matte... OMIM:133540
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Petechiae, Progressive microcephaly, Deep white matter hypodensities, Erythema,... OMIM:225750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Respiratory failure, Respiratory distress OMIM:617895
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Abnormal axonemal organization of respiratory motile cilia, Cough, Rhinorrhe... OMIM:613808
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:1154
Multiple Carboxylase Deficiency
Tachypnea, Optic atrophy, Respiratory distress ORPHA:148
Ramos-Arroyo Syndrome
Deviated nasal septum, Choanal stenosis, Primary microcephaly, Choriocapillaris atrophy, Depresse... ORPHA:1051
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure, Abnormality of the optic nerve ORPHA:3226
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Microcephaly, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Chitayat Syndrome
Tracheomalacia, Depressed nasal bridge, Respiratory distress, Short columella, Anteverted nares OMIM:617180
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Respiratory failure requiring assisted ventilation, Recurrent ... ORPHA:496641
Chromosome Xp11.3 Deletion Syndrome
Blindness, Microcephaly, Undetectable electroretinogram, Nyctalopia, Moderate myopia, Constrictio... OMIM:300578
Gaucher Disease, Perinatal Lethal
Petechiae, Microcephaly, Depressed nasal bridge, Respiratory distress, Neonatal death, Apnea, Ant... OMIM:608013
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Erythema, Respiratory failure, Co... ORPHA:420741
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Microlissencephaly-Micromelia Syndrome
Lissencephaly, Short nose, Respiratory distress, Secondary microcephaly ORPHA:50810
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Crackles, Cough, Dyspnea, Decreased DLCO ORPHA:747
Leigh Syndrome
Agenesis of corpus callosum, Abnormality of the optic nerve, Respiratory failure, Abnormal patter... ORPHA:506
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Respiratory failure, Secondary microcephaly, Respiratory insuffi... OMIM:618329
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Microcephaly, Apnea, Thin corpus callosum OMIM:619580
Cockayne Syndrome A
Cerebral atrophy, Hypermetropia, Abnormality of visual evoked potentials, Microcephaly, Basal gan... OMIM:216400
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology ORPHA:48818
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Microcephaly, Wide nasal bridge, Hypoplastic nasal tip ORPHA:3304
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Hyperintensity of cerebral white matter on MRI, Palmoplantar cutis l... ORPHA:363705
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Cerebrotendinous Xanthomatosis
Hyperintensity of cerebral white matter on MRI, Abnormality of visual evoked potentials, Abnormal... ORPHA:909
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Respiratory failure, Cough, Dyspnea ORPHA:99931
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperintensity of cerebral white matter on MRI, Microcephaly, Respiratory failure, Hypoplasia of ... ORPHA:88618
Hereditary Cryohydrocytosis With Reduced Stomatin
Microcephaly, Decreased thalamic volume, Cerebral white matter hypoplasia, Intracerebral perivent... ORPHA:168577
Peripartum Cardiomyopathy
Asthma, Crackles, Paroxysmal dyspnea, Respiratory failure, Dyspnea, Pulmonary arterial hypertensi... ORPHA:563
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Vitreoretinopathy, Neovascular Inflammatory
Blindness, Abnormal electroretinogram OMIM:193235
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy, Respiratory failure OMIM:607598
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Abnormal respiratory motile cilium morphology, Airway obstruction, Chr... OMIM:242680
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Decreased nasal nit... OMIM:615444
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Obstructive sleep apnea, Intercostal muscle weakness OMIM:606071
Usher Syndrome
High hypermetropia, Myopia, Blindness, Progressive visual loss, Abnormal electroretinogram, Cereb... ORPHA:886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress ORPHA:289916
Mandibulofacial Dysostosis, Guion-Almeida Type
Progressive microcephaly, Choanal atresia, Microcephaly, Respiratory distress, Anteverted nares, ... OMIM:610536
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Nasal polyposis, Depressed nasal bridge, Midline defec... ORPHA:1993
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Dravet Syndrome
Dysgenesis of the hippocampus, Cyanotic episode ORPHA:33069
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia, Pleural effusion, Dyspnea, Exertional dyspnea, Elevated pulmonary artery pre... ORPHA:199241
Slc35A1-Cdg
Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Kniest Dysplasia
Depressed nasal bridge, Retinal detachment, Tracheomalacia, Respiratory distress OMIM:156550
Pulmonary Alveolar Microlithiasis
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on ... ORPHA:60025
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Immotile cilia, Anosmia, Pneumonia, Chronic rhinitis, Nasal polyposi... OMIM:244400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad nasal tip, Underdeveloped nasal alae, Wide nasal bridge, Microcephaly, Respiratory distress... ORPHA:438216
Pfeiffer Syndrome Type 2
Tracheomalacia, Choanal atresia, Depressed nasal bridge, Respiratory distress, Hydrocephalus, Aqu... ORPHA:93259
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Respiratory distress, Hydrocephalus, Anteverted nares, O... ORPHA:1555
Retinitis Pigmentosa 41
Peripheral visual field loss, Undetectable electroretinogram, Severely reduced visual acuity, Nyc... OMIM:612095
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Respiratory distress ORPHA:927
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Depressed nasal bridge, Respiratory distress, Hypoventilation, Aspira... ORPHA:314655
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Depressed nasal bridge, Respiratory failure OMIM:614862
Tularemia
Abnormal nasopharyngeal adenoid morphology, Pneumonia, Pleural effusion, Cough, Respiratory distress ORPHA:3392
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress ORPHA:142
Tarp Syndrome
Cyanosis, Abnormal corpus callosum morphology, Wide nasal bridge, Apnea, Anteverted nares, Optic ... ORPHA:2886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Respiratory distress ORPHA:79312
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Cerebral calcification, Airway obstruction, Abnormality of retinal pigmentation, Pulmonary arteri... ORPHA:505248
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Bulbous nose, Wide nasal bridge, Choanal atresia, Depressed nasal bri... OMIM:300968
Histiocytoid Cardiomyopathy
Cyanosis, Agenesis of corpus callosum, Tachypnea, Cough, Hydrocephalus, Optic atrophy ORPHA:137675
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency OMIM:609015
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Myopia, Abnormal electroretinogram, Photophobia, Nyctalopia ORPHA:5
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Acrocyanosis, Pneumonia ORPHA:1867
Spondyloepiphyseal Dysplasia Congenita
Vitreoretinopathy, Restrictive ventilatory defect, Retinal detachment, Respiratory distress, Cerv... OMIM:183900
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Stridor, Respiratory distress, Respiratory insufficiency OMIM:211530
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Unilateral Polymicrogyria
Cyanosis, Perisylvian polymicrogyria, Microcephaly, Cortical dysplasia, Apnea, Epistaxis ORPHA:268943
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Microcephaly, Pulmonary arterial hypertension, Respiratory distress, Hypoplasia of the corpus cal... ORPHA:2519
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Nasal polypo... OMIM:242670
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Respiratory failure, Dyspnea, Depressed nasal bridge, Cardiorespi... ORPHA:26791
Tricuspid Atresia
Cyanosis ORPHA:1209
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Optic disc pallor, Episodic hypoventilation, Death in infancy, Opt... OMIM:301790
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Sepsis In Premature Infants
Cyanosis, Abnormal respiratory system physiology, Petechiae, Jaundice, Dyspnea, Abnormal mucocili... ORPHA:90051
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Convex nasal ridge, Pleural effusion, Dyspnea, Depressed nasal ... ORPHA:3015
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Respiratory failure, Dyspnea ORPHA:803
Pitt-Hopkins Syndrome
Triangular nasal tip, Aplasia/Hypoplasia of the corpus callosum, Failure of eruption of permanent... ORPHA:2896
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hypoplasia of the corpus callosum, Respiratory failure, Tachypnea, Death in childhood, Atelectasi... OMIM:618278
Tuberous Sclerosis Complex
Cortical tubers, Retinal astrocytic hamartoma, Respiratory failure, Chorioretinal hypopigmentatio... ORPHA:805
Ethylene Glycol Poisoning
Cyanosis, Cerebral edema, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress ORPHA:31826
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Thalamic hemorrhage ORPHA:464321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Tachypnea, Pleural effusion, Hypoxemia ORPHA:542323
Nasolacrimal Duct Cyst
Deviated nasal septum, Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, ... ORPHA:141083
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Increased circulating prolactin concentration, ... ORPHA:2905
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Short Rib-Polydactyly Syndrome
Retinopathy, Abnormal cerebral morphology, Respiratory failure, Depressed nasal bridge ORPHA:1505
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Gonadotropin deficiency, Central diabetes insipidus, Recurrent upper respiratory tract ... ORPHA:293987
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI ORPHA:845
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Stillbirth OMIM:304120
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:746
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Respiratory failure, Death in childhood, Respiratory insufficiency, Optic atrophy OMIM:610505
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Tac... ORPHA:555874
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Ci... OMIM:614935
Pfeiffer Syndrome Type 3
Tracheomalacia, Choanal atresia, Depressed nasal bridge, Respiratory distress, Aqueductal stenosi... ORPHA:93260
Odontochondrodysplasia 1
Death in infancy, Delayed eruption of teeth, Respiratory distress OMIM:184260
Enhanced S-Cone Syndrome
Undetectable electroretinogram, Nyctalopia, Hemeralopia OMIM:268100
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Urticaria, Cough, Respiratory insufficiency, Nasal polyposis,... ORPHA:183
Moebius Syndrome
Depressed nasal bridge, Abnormal nasopharynx morphology, Respiratory distress OMIM:157900
Structural Heart Defects And Renal Anomalies Syndrome