Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge, Short nose ORPHA:261144
Rett Syndrome, Congenital Variant
Bulbous nose, Depressed nasal bridge, Aspiration OMIM:613454

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tritanopia
Tritanomaly, Color vision defect, Abnormal light-adapted electroretinogram, Dyschromatopsia OMIM:190900
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Slow decrease in visual acuity OMIM:613587
Usher Syndrome, Type I
Visual loss, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram, Reduced visual acuity, Visual impairment OMIM:153700
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Reduced visual acuity OMIM:165510
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Decreased Arden ratio of electrooculogram OMIM:616151
Choroideremia
Progressive visual loss, Abnormal electroretinogram, Visual impairment, Myopia, Nyctalopia, Abnor... ORPHA:180
X-Linked Retinoschisis
Abnormal electroretinogram, Abnormality of vision ORPHA:792
Optic Atrophy 1
Tritanomaly, Red-green dyschromatopsia, Centrocecal scotoma, Central scotoma, Abnormal amplitude ... OMIM:165500
Leber Congenital Amaurosis 5
High hypermetropia, Undetectable electroretinogram, Visual loss, Visual impairment, Hypermetropia OMIM:604537
Progressive Cone Dystrophy
Abnormal electroretinogram, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Retinitis Pigmentosa 39
Visual field defect, Abnormal electroretinogram, Visual impairment OMIM:613809
Optic Atrophy 8
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment OMIM:616648
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sorsby Fundus Dystrophy
Abnormal electroretinogram, Blindness OMIM:136900
Blue Cone Monochromatism
Abnormal electroretinogram, Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Retinitis Pigmentosa 31
Visual field defect, Abnormal electroretinogram OMIM:609923
Stargardt Disease
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... ORPHA:827
Oligocone Trichromacy
Abnormal electroretinogram, Photophobia ORPHA:75378
Retinal Cone Dystrophy 1
Abnormal electroretinogram, Color vision defect, Photophobia, Progressive visual loss OMIM:180020
Perching Syndrome
Cyanosis, Depressed nasal bridge, Rod-cone dystrophy, Respiratory distress OMIM:617055
Cone-Rod Dystrophy 12
Abnormal light- and dark-adapted electroretinogram, Central scotoma, Color vision defect, Reduced... OMIM:612657
Ă…land Islands Eye Disease
Abnormal electroretinogram, Color vision defect, Myopia, Difficulty adjusting from light to dark,... ORPHA:178333
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Decreased light- and dark-adapted electroretinogram amplitude, Congenital st... OMIM:610445
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum ORPHA:171703
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Tritanomaly, Red-green dyschromatopsia, Centrocecal scotoma, Central scotoma, Abnormal amplitude ... OMIM:125250
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Abnormal electroretinogram, Visual impairment ORPHA:1574
Night Blindness, Congenital Stationary, Type 1C
Myopia, Abnormal electroretinogram, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Cone-Rod Dystrophy 13
Undetectable light- and dark-adapted electroretinogram, Photophobia, Color vision defect, Visual ... OMIM:608194
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Canavan Disease
Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:141
Congenital Stationary Night Blindness
Myopia, Congenital stationary night blindness with normal fundus, Reduced amplitude of dark-adapt... ORPHA:215
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Nyctalopia OMIM:607475
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Retinitis Pigmentosa 93
Undetectable electroretinogram, Constriction of peripheral visual field, Reduced visual acuity OMIM:619845
Retinitis Pigmentosa 54
Abnormal electroretinogram, Nyctalopia, Visual impairment OMIM:613428
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormal electroretinogram, Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Rod-cone dystrophy, Wide nasal bridge, Retinal atrophy, Apnea, Respira... OMIM:610127
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory distress, Short nose, Dyspnea, Anteverted nares, Respiratory f... ORPHA:1832
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormal electrooculogram, Nyctalopia OMIM:179840
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:2971
Retinitis Pigmentosa 7
Abnormal electroretinogram, Constriction of peripheral visual field, Adult-onset night blindness,... OMIM:608133
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... ORPHA:52368
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... OMIM:619773
Retinitis Pigmentosa 19
Abnormal electroretinogram, Constriction of peripheral visual field, Visual impairment, Reduced v... OMIM:601718
Retinitis Pigmentosa 69
Undetectable electroretinogram, Constriction of peripheral visual field, Nyctalopia, Reduced visu... OMIM:615780
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Progressive visual loss, Abnormality of visual evoked po... ORPHA:1215
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Progressive visual loss, Undetectable electroretinogram, Abnormality of pattern visual evoked pot... ORPHA:1947
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials OMIM:618195
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Wide nasal bridge, Central sleep apnea, Apnea, Neonatal respiratory distress... ORPHA:168486
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Abnormal mucociliary clearance, Agenesis of corpus callosum, Respiratory distress, Bronchiectasis OMIM:619466
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Retinitis Pigmentosa 4
Blindness, Visual field defect, Abnormal electroretinogram, Reduced visual acuity, Nyctalopia OMIM:613731
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Leber Congenital Amaurosis 14
Congenital blindness, Reduced visual acuity, Photophobia, Decreased light- and dark-adapted elect... OMIM:613341
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Progressive visual loss, Progressive night blindness, Un... ORPHA:436245
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
Progressive visual loss, Undetectable visual evoked potentials, Blindness, Visual loss, Visual im... OMIM:601338
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Cone-Rod Dystrophy 19
Reduced visual acuity, High myopia, Undetectable pattern electroretinogram OMIM:615860
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... OMIM:601152
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:2246
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness OMIM:300717
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral visual impairment, Abnormal electroretinogram, Myopia, Hypermetropia, Abnormality of vis... OMIM:616875
Retinal Cone Dystrophy 3A
Abnormal light-adapted flicker electroretinogram, Photophobia, Dyschromatopsia, Reduced visual ac... OMIM:610024
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Recurrent upper respiratory tract infections, Cough, Respiratory ... OMIM:263000
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Pyruvate Dehydrogenase E1-Alpha Deficiency
Wide nasal bridge, Apneic episodes precipitated by illness, fatigue, stress, Anteverted nares, Re... OMIM:312170
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Retinitis Pigmentosa 27
Undetectable electroretinogram, Blindness, Nyctalopia, Visual impairment OMIM:613750
Leber Congenital Amaurosis 6
Severely reduced visual acuity, High hypermetropia, Undetectable electroretinogram, Photophobia OMIM:613826
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
High myopia, Photophobia, Abnormality of visual evoked potentials OMIM:614457
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Leber Congenital Amaurosis 7
Undetectable electroretinogram, Photophobia, Visual impairment OMIM:613829
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormal electroretinogram, Abnormality of visual evoked potentials OMIM:125310
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Cone-Rod Dystrophy 2
Blindness, Central scotoma, Abnormal electroretinogram, Color vision defect, Constriction of peri... OMIM:120970
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... ORPHA:168491
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Respiratory distress OMIM:615993
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Retinitis Pigmentosa 50
Abnormal electroretinogram, Reduced visual acuity, Nyctalopia OMIM:613194
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:206443
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Inspiratory stridor... OMIM:207950
Usher Syndrome Type 3
Hemianopia, Scotoma, Visual loss, Abnormal electroretinogram, High hypermetropia, Nyctalopia ORPHA:231183
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Respirato... OMIM:313420
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Optic atrophy, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Abnormal retinal morphology, Wide nasal bridge, Respiratory distress, Agenesis of corp... ORPHA:89844
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Krabbe Disease
Blindness, Abnormal flash visual evoked potentials OMIM:245200
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Reduced visual acuity, Abnormal electroretinogram, Constriction of pe... OMIM:304700
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Visual loss, Cerebral visual impairment, Undetectable visual evoked potentials OMIM:619051
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Friedreich Ataxia
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... OMIM:229300
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
Usher Syndrome Type 1
Hemianopia, Scotoma, Visual loss, Abnormal electroretinogram, High hypermetropia, Nyctalopia ORPHA:231169
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Retinitis Pigmentosa 32
Undetectable electroretinogram, Nyctalopia, Photophobia, Reduced visual acuity OMIM:609913
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Abnormality of thalamus morphology OMIM:613724
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy ORPHA:370968
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Death in infancy, Respiratory distress, Short nose, Neonatal respiratory distress OMIM:615042
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:480898
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Ruvalcaba Syndrome
Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:3121
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Dyspnea, Respiratory failure,... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... OMIM:610921
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Central apnea, Respiratory failure, Respirato... OMIM:618291
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Stillbirth, Respiratory failure OMIM:276950
White-Sutton Syndrome
Mild myopia, Abnormal electroretinogram, Visual impairment, Myopia, Hypermetropia, Abnormality of... OMIM:616364
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopia, Abnormal electroretinogram ORPHA:1369
Glutamine Deficiency, Congenital
Wide nasal bridge, Lateral ventricle dilatation, Short nose, Apnea, Depressed nasal bridge, Antev... OMIM:610015
Malaria
Retinopathy, Respiratory distress ORPHA:673
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Retinitis Pigmentosa 12
High hypermetropia, Undetectable electroretinogram, Nyctalopia, Reduced visual acuity OMIM:600105
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Leigh Syndrome
Respiratory insufficiency, Optic atrophy, Abnormal pattern of respiration, Respiratory failure, P... OMIM:256000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... OMIM:610913
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Primary Ciliary Dyskinesia
Respiratory failure, Rod-cone dystrophy, Bronchiectasis, Productive cough, Hydrocephalus, Chronic... ORPHA:244
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia involving the nose, Respiratory distress, Holoprosencephaly, Age... ORPHA:990
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Abnormal electroretinogram ORPHA:2743
Infantile Krabbe Disease
Visual loss, Photophobia, Abnormality of visual evoked potentials, Blindness ORPHA:206436
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Cyanotic episode, Lateral ventricle dilatation ORPHA:284417
Arnold-Chiari Malformation Type Ii
Cyanosis, Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Apnea, Partial agene... ORPHA:1136
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Retinitis Pigmentosa 45
Abnormal electroretinogram, Peripheral visual field loss, Nyctalopia OMIM:613767
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... OMIM:245400
Agnathia-Otocephaly Complex
Wide nose, Respiratory distress, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum OMIM:202650
Peho Syndrome
Undetectable visual evoked potentials OMIM:260565
Infant Acute Respiratory Distress Syndrome
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... ORPHA:2590
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials ORPHA:98755
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Optic neuritis ORPHA:71211
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Abnormal electroretinogram, Abnormality of pattern visual evoked potentials,... ORPHA:166035
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:615330
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Central hypoventilation, Respiratory failure, Sleep apnea OMIM:618233
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Depressed nasal ridge ORPHA:1861
Hyperekplexia 4
Respiratory failure OMIM:618011
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309256
Leigh Syndrome With Nephrotic Syndrome
Cerebral visual impairment, Undetectable visual evoked potentials ORPHA:255249
Metachromatic Leukodystrophy, Juvenile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309263
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Respiratory distress, Dyspnea, Respiratory failure, Choanal atresia ORPHA:2759
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... ORPHA:79126
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hydrocephalus, Respiratory distress, De... OMIM:616482
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor, Optic atrophy ORPHA:2254
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Telangiectasia, Abnormal macular morphology, Optic atrophy, Respiratory distress, De... OMIM:608799
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... ORPHA:2257
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough ORPHA:50251
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Acute Zonal Occult Outer Retinopathy
Hemianopia, Visual field defect, Blurred vision, Scotoma, Central scotoma, Visual loss, Abnormal ... ORPHA:284454
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood, Lateral ventricle dilatation OMIM:619847
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Hermansky-Pudlak Syndrome
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Succinic Acidemia
Respiratory distress OMIM:600335
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Wide nasal bridge, Hydrocephalus, Respiratory distress... ORPHA:3309
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Van Den Bosch Syndrome
Abnormal electroretinogram, High myopia ORPHA:3417
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Leber Congenital Amaurosis 9
Reduced visual acuity, Ultra-low vision, Photophobia, Ultra-low vision with retained light percep... OMIM:608553
Odontochondrodysplasia
Death in infancy, Delayed eruption of teeth, Respiratory distress, Short nose, Depressed nasal br... ORPHA:166272
Beare-Stevenson Cutis Gyrata Syndrome
Choanal stenosis, Palmoplantar cutis laxa, Natal tooth, Optic atrophy, Hydrocephalus, Respiratory... OMIM:123790
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Choroideremia, Abnormal optic nerve morphology, Respiratory distress, Chorioretina... ORPHA:2707
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Abnormality of thalamus morphology, Lateral ventricle di... ORPHA:300570
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Anteverted nares, Bulbous nose, Optic atrophy OMIM:616505
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... ORPHA:137914
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Lateral ventricle dilatation, Visual impairment ORPHA:2822
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Restrictive Dermopathy 2
Cyanosis, Convex nasal ridge, Respiratory distress OMIM:619793
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Retinitis Pigmentosa
Blindness, Progressive night blindness, Abnormal electroretinogram, Visual impairment, Photophobia ORPHA:791
Retinitis Pigmentosa 43
Abnormal electroretinogram, Nyctalopia, Peripheral visual field loss, Visual impairment OMIM:613810
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor, Death in childhood, Tachypnea OMIM:615838
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Optic atrophy, Respiratory distress, Respiratory failure, Death in childhood,... OMIM:220110
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Acquired Methemoglobinemia
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress ORPHA:464453
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... OMIM:615512
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p... OMIM:606763
Retinitis Pigmentosa 14
Undetectable electroretinogram, Constriction of peripheral visual field, Nyctalopia, Reduced visu... OMIM:600132
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309271
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis ORPHA:444013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Death in infancy, Agenesis of corpus callosum, Apnea, Nasal congestion... OMIM:608836
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Decreased thalamic volume ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Optic atrophy OMIM:615597
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Cyanosis, Pneu... ORPHA:95430
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria ORPHA:100057
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Concave nasal ridge, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Anteverted nares, Agenesis of ... OMIM:612863
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress, Optic atrophy ORPHA:79097
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc... OMIM:616037
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Depressed nasal bridge, Respiratory distress, Wide nasal bridge OMIM:617102
Tubulinopathy-Associated Dysgyria
Abnormality of thalamus morphology ORPHA:467166
Snakebite Envenomation
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia ORPHA:70578
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Neuromuscular Oculoauditory Syndrome
Aspiration, Retinal pigment epithelial mottling, Respiratory distress, Chorioretinal lacunae, Age... OMIM:618733
Mpdu1-Cdg
Undetectable visual evoked potentials ORPHA:79323
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Optic atrophy, Respiratory distress, Short nose, Broad columella, Narrow nasal... OMIM:619383
Intellectual Developmental Disorder With Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:352447
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... OMIM:605711
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Abnormal electroretinogram, Nyctalopia ORPHA:1390
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea OMIM:604320
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Depressed nasal bridge, Anteverted nares, Neonatal respiratory ... OMIM:217980
Retinitis Pigmentosa 25
Undetectable electroretinogram, Constriction of peripheral visual field, Photophobia, Nyctalopia OMIM:602772
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials ORPHA:423479
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Respiratory distress, Wide nasal bridge ORPHA:261304
Breath-Holding Spells
Cyanosis OMIM:607578
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... OMIM:610978
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction OMIM:208550
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:98914
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Wide nasal bridge, Vitritis, Retinal dystrophy, Hydrocephalus, Respiratory distress, A... ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Restrictive ventilatory defect OMIM:606612
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Abnormal optic nerve morphology, Bruising susceptibility ORPHA:3226
Leber Congenital Amaurosis
Severely reduced visual acuity, Abnormal electroretinogram ORPHA:65
Hsd10 Disease, Infantile Type
Cyanosis, Retinal degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:391428
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Myelopathy, Cervical myelopathy, Respiratory failure, Death in childhood OMIM:617186
Nipah Virus Disease
Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Chitayat Syndrome
Respiratory distress, Short columella, Depressed nasal bridge, Anteverted nares, Tracheomalacia OMIM:617180
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO ORPHA:747
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Usher Syndrome Type 2
Hemianopia, Scotoma, Visual loss, Abnormal electroretinogram, Myopia, Nyctalopia ORPHA:231178
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusitis, Na... OMIM:613808
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Depressed nasal bridge, Respiratory distress OMIM:617895
Metatropic Dysplasia
Respiratory insufficiency, Depressed nasal bridge, Respiratory failure OMIM:156530
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Apnea, Depressed nasal bridge, Anteverted nares, Respiratory failure OMIM:617301
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Optic atrophy OMIM:261680
Multiple Carboxylase Deficiency
Respiratory distress, Optic atrophy, Tachypnea ORPHA:148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Retinal dystrophy, Hydrocephalus OMIM:616538
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:1154
Idiopathic Pulmonary Hemosiderosis
Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure ORPHA:99931
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysplastic corpus callosum, Lateral ventricle dilatation ORPHA:488627
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Irregular respiration, Respiratory distress, Depressed nasal bridge, Inspirator... OMIM:604377
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sandestig-Stefanova Syndrome
Respiratory failure, Convex nasal ridge, Wide nasal bridge OMIM:618804
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir... ORPHA:563
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Nasal polyposi... OMIM:617092
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Degenerative vitreoretinopathy OMIM:607598
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory failure, Prolonged neonatal ja... OMIM:607625
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Geleophysic Dysplasia 3
Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Dyspnea, Anteverted nares, Respiratory f... OMIM:617809
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Scedosporiosis
Pleural empyema, Abnormal respiratory system physiology, Sinusitis, Cough, Respiratory failure, B... ORPHA:449280
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Anteverted nares, Occipital ... OMIM:619879
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough ORPHA:86812
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Leigh Syndrome With Cardiomyopathy
Retinopathy, Optic atrophy, Respiratory distress, Apnea, Central hypoventilation, Respiratory fai... ORPHA:70474
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Asthma, Agenesis of corpus callosum, Respiratory distress, Recur... ORPHA:209905
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Hydrocephalus, Respiratory distress, Depressed nasal bridge, Anteverted nares, Cho... ORPHA:1555
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae, Abnormal retinal vascular morphology OMIM:602473
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Osteopetrosis, Autosomal Recessive 5
Severely reduced visual acuity, Undetectable visual evoked potentials, Visual impairment OMIM:259720
Retinitis Pigmentosa 41
Severely reduced visual acuity, Undetectable electroretinogram, Peripheral visual field loss, Nyc... OMIM:612095
Ciliary Dyskinesia, Primary, 22
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615444
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Vitreoretinopathy, Neovascular Inflammatory
Abnormal electroretinogram, Blindness OMIM:193235
Alg1-Cdg
Respiratory failure ORPHA:79327
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Warburg Micro Syndrome 2
Undetectable visual evoked potentials OMIM:614225
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Cough, Pneumonia ORPHA:3392
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Histiocytoid Cardiomyopathy
Cyanosis, Optic atrophy, Hydrocephalus, Cough, Agenesis of corpus callosum, Tachypnea ORPHA:137675
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress OMIM:620011
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness OMIM:606071
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Hypoxemia... ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Anaplastic Thyroid Carcinoma
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor ORPHA:142
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Abnormal electroretinogram, Myopia, Photophobia, Nyctalopia ORPHA:5
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Joubert Syndrome 3
Abnormal electroretinogram, Lateral ventricle dilatation, Visual impairment OMIM:608629
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Prolonged neonatal jaundice, Respiratory distress ORPHA:226313
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Short nose, Depressed nasal bridge, Tra... ORPHA:93259
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... ORPHA:60025
Radio-Renal Syndrome
Convex nasal ridge, Respiratory distress, Pleural effusion, Depressed nasal bridge, Dyspnea, Chyl... ORPHA:3015
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy OMIM:609015
Muscular Dystrophy, Duchenne Type
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... OMIM:310200
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... ORPHA:199241
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Short nose, Apnea, Recurrent pneumon... ORPHA:314655
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Communicating hydrocephalus, Chronic sinusi... OMIM:244400
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Depressed nasal bridge, Restrictive ventilatory defect, Dyspnea, Respir... ORPHA:26791
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor OMIM:211530
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology ORPHA:435638
Sepsis In Premature Infants
Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy... ORPHA:90051
Tricuspid Atresia
Cyanosis ORPHA:1209
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Vitreoretinopathy, Restrictive ventilatory defect, Cervical myelopathy, Ret... OMIM:183900
Leigh Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal pattern of respiration, Respiratory fail... ORPHA:506
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Short nose ORPHA:544503
Kniest Dysplasia
Retinal detachment, Tracheomalacia, Depressed nasal bridge, Respiratory distress OMIM:156550
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Nasal congestion, Ep... ORPHA:141083
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Abnormal respiratory system phy... OMIM:242670
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Cockayne Syndrome B
Hypermetropia, Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Hypermetropia, Abnormality of visual evoked potentials OMIM:216400
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea ORPHA:542323
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Amyotrophic Lateral Sclerosis
Respiratory failure, Abnormal respiratory system physiology, Dyspnea ORPHA:803
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology ORPHA:88619
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... OMIM:618426
Gaucher Disease, Perinatal Lethal
Petechiae, Purpura, Respiratory distress, Short nose, Apnea, Depressed nasal bridge, Anteverted n... OMIM:608013
Achondroplasia
Choanal stenosis, Death in infancy, Hydrocephalus, Respiratory distress, Depressed nasal bridge, ... OMIM:100800
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... ORPHA:70
Cryptococcosis
Abnormal retinal morphology, Vitritis, Hydrocephalus, Respiratory distress, Pleural effusion, Dys... ORPHA:1546
Ramos-Arroyo Syndrome
Choanal stenosis, Choriocapillaris atrophy, Respiratory distress, Depressed nasal bridge, Concave... ORPHA:1051
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Wide nasal bridge, Optic atrophy, Respiratory distress, Recurrent pneumonia, Death in ... OMIM:617303
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Optic atrophy, Death in infancy, Dyspnea, Optic neuropathy, Respirator... OMIM:610505
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy, Short nose ORPHA:329178
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... ORPHA:555874
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Pigmentary retinopathy ORPHA:746
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Respiratory distress, Death in infancy OMIM:300219
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Depressed nasal bridge, Neonatal death, Respiratory distress OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Delayed eruption of teeth OMIM:184260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Optic atrophy, Retinal degeneration, Jaundic... ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Chorioretinal hyperpigmentation, Optic atrophy OMIM:618329
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Waardenburg Syndrome Type 3
Tracheomalacia, Narrow nasal bridge, Acrocyanosis ORPHA:896
Moebius Syndrome
Depressed nasal bridge, Respiratory distress, Abnormal nasopharynx morphology OMIM:157900
Diaphanospondylodysostosis
Respiratory insufficiency, Depressed nasal ridge, Respiratory distress, Short nose, Depressed nas... OMIM:608022
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Acrocyanosis, Petechiae ORPHA:51188
Ciliary Dyskinesia, Primary, 19
Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ... OMIM:614935
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology ORPHA:2959
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Asthma, Purpura, Nasal polyposis, Acrocyanosis, Cutis marmorata, Sinus... ORPHA:183
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Hypoplastic nasal tip, Wide nasal bridge ORPHA:3304
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Double Outlet Right Ventricle
Cyanosis, Depressed nasal bridge, Tachypnea ORPHA:3426
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Short nose, Depressed nasal bridge, Tracheomalacia, Ch... ORPHA:93260
Enhanced S-Cone Syndrome
Hemeralopia, Undetectable electroretinogram, Nyctalopia OMIM:268100
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Arterial Tortuosity Syndrome
Respiratory distress, Short nose, Cardiorespiratory arrest, Dyspnea, Telangiectasia of the skin, ... ORPHA:3342
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cyanosis, Death in infancy, Apnea, Optic neuropathy, Respiratory failu... OMIM:252010
Japanese Encephalitis
Paucity of anterior horn motor neurons, Abnormality of thalamus morphology, Focal T2 hyperintense... ORPHA:79139
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent nose OMIM:614407
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Apnea, Myelopathy, Optic neuropathy, Hyperventilation ORPHA:79241
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Premature skin wrinkling, Respiratory d... ORPHA:363705
Rodrigues Blindness
Nasal flaring, Narrow nasal bridge, Ectodermal dysplasia OMIM:268320
Isolated Right Ventricular Hypoplasia
Dyspnea, Cyanosis, Hypoxemia ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Tachypnea ORPHA:860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Hydrocephalus, Respira... ORPHA:536467
Usher Syndrome
Progressive visual loss, Blindness, Visual field defect, Abnormal electroretinogram, Visual impai... ORPHA:886
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension OMIM:613845
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Death in infancy, Jaundice, Apnea, Hypopnea, Respiratory arrest, Neonatal death OMIM:617248
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Optic atrophy, Hydrocephalus, Respiratory distress, Abnormality ... ORPHA:505248
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory failure, Respiratory failure requiri... ORPHA:308552
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Opt... ORPHA:496641
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Abnormal optic nerve morphology, Telangiectasia of the skin ORPHA:679
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Hyperparathyroidism, Transient Neonatal
Short nasal bridge, Wide nasal bridge, Communicating hydrocephalus, Respiratory distress, Depress... OMIM:618188
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Death in infancy, Depressed nasal bridge, Anteverted nares, Respira... OMIM:300868
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Respiratory distress, Generalized abnormality of skin ORPHA:367
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus ORPHA:157846
Riddle Syndrome
Telangiectasia, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilat... ORPHA:420741
Prader-Willi Syndrome Due To Translocation
Prominent nose, Lateral ventricle dilatation, Respiratory distress, Short nose, Narrow nasal brid... ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Wide nasal bridge, Respiratory distress, Broad nasal tip, Anteverted n... ORPHA:438216
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Depressed nasal bridge, Respiratory distress, Stillbirth OMIM:151210
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Tarp Syndrome
Cyanosis, Wide nasal bridge, Optic atrophy, Apnea, Anteverted nares ORPHA:2886
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Farber Disease
Respiratory insufficiency, Macular degeneration, Respiratory distress, Recurrent upper respirator... ORPHA:333
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased... ORPHA:99103
Esophageal Atresia
Cyanosis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotracheomalacia,... ORPHA:1199
Dravet Syndrome
Cyanotic episode ORPHA:33069
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Fusion of the left and right thalami, Panhypopituitarism... OMIM:610828
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Respiratory distre... ORPHA:1134
Arthrogryposis, Distal, Type 5
Abnormal electroretinogram, Hypermetropia OMIM:108145
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormality of the pituitary gland