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
Bulbous nose, Depressed nasal bridge, Agenesis of corpus callosum, Short nose ORPHA:261144
14Q11.2 Microduplication Syndrome
Depressed nasal bridge, Wide nasal bridge ORPHA:261229
Rett Syndrome, Congenital Variant
Aspiration, Bulbous nose, Depressed nasal bridge OMIM:613454

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tritanopia
Tritanomaly, Dyschromatopsia, Abnormal light-adapted electroretinogram, Color vision defect OMIM:190900
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Slow decrease in visual acuity OMIM:613587
Optic Atrophy 5
Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... OMIM:610708
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
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... OMIM:165500
Macular Dystrophy, Vitelliform, 4
Decreased Arden ratio of electrooculogram, Moderately reduced visual acuity OMIM:616151
X-Linked Retinoschisis
Abnormality of vision, Abnormal electroretinogram ORPHA:792
Choroideremia
Myopia, Nyctalopia, Abnormal electroretinogram, Abnormality of vision, Progressive visual loss, V... ORPHA:180
Leber Congenital Amaurosis 5
Undetectable electroretinogram, Visual loss, Hypermetropia, High hypermetropia, Visual impairment OMIM:604537
Progressive Cone Dystrophy
Photophobia, Abnormal electroretinogram, Visual impairment, Color vision defect ORPHA:1871
Retinitis Pigmentosa 39
Abnormal electroretinogram, Visual impairment, Visual field defect OMIM:613809
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Sorsby Fundus Dystrophy
Blindness, Abnormal electroretinogram OMIM:136900
Pyknoachondrogenesis
Stillbirth OMIM:265880
Blue Cone Monochromatism
Blue cone monochromacy, Photophobia, Abnormal electroretinogram, Visual impairment ORPHA:16
Retinitis Pigmentosa 31
Abnormal electroretinogram, Visual field defect OMIM:609923
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... ORPHA:827
Oligocone Trichromacy
Photophobia, Abnormal electroretinogram ORPHA:75378
Retinal Cone Dystrophy 1
Photophobia, Abnormal electroretinogram, Progressive visual loss, Color vision defect OMIM:180020
Perching Syndrome
Respiratory distress, Rod-cone dystrophy, Depressed nasal bridge, Cyanosis OMIM:617055
Ă…land Islands Eye Disease
Myopia, Abnormal electroretinogram, Difficulty adjusting from light to dark, Reduced visual acuit... ORPHA:178333
Cone-Rod Dystrophy 12
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormal light- and dark-adapted electroretin... OMIM:612657
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Decreased light- and dark-adapted electroretinogram amplit... OMIM:610445
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Red-green dyschromatopsia, Central scotoma, Reduced visual acuity, Abnormal amplitude of pattern ... OMIM:125250
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum ORPHA:171703
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Abnormal electroretinogram, Visual impairment ORPHA:1574
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity OMIM:613216
Cone-Rod Dystrophy 13
Undetectable light- and dark-adapted electroretinogram, Reduced visual acuity, Photophobia, Visua... 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, Nyctalopia, Reduced visual acuity, Hypermetropia, Congenital stationary night blindness w... ORPHA:215
Bothnia Retinal Dystrophy
Nyctalopia, Abnormal electroretinogram OMIM:607475
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Reduced visual acuity, Undetectable electroretinogram OMIM:619845
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram, Visual impairment ORPHA:1933
Retinitis Pigmentosa 54
Nyctalopia, Abnormal electroretinogram, Visual impairment OMIM:613428
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Apnea, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonat... OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Respiratory failure, Shor... ORPHA:1832
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity, Amblyopia ORPHA:352731
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormal electrooculogram OMIM:179840
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia, Abnormal electroretinogram ORPHA:2971
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Abnormal electroretinogram, Adult-onset night blindness,... OMIM:608133
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... ORPHA:52368
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Nyctalopia, Abnormal electroretinogram, Reduced visual a... OMIM:601718
Retinitis Pigmentosa 69
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Undetectable electror... OMIM:615780
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... ORPHA:1215
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Visual impairment, Abnormality of pattern visual evoked potentials, Progressive visual loss, Unde... ORPHA:1947
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
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance OMIM:619466
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity OMIM:618195
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Undetectable visual evoked potentials, Progressive visual loss, Visual im... OMIM:601338
Retinitis Pigmentosa 4
Blindness, Nyctalopia, Abnormal electroretinogram, Reduced visual acuity, Visual field defect OMIM:613731
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Photophobia, Decreased light- and dark-adapted electroretinogr... OMIM:613341
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Progressive night blindness, Constriction of peripheral vi... ORPHA:436245
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Cone-Rod Dystrophy 19
High myopia, Reduced visual acuity, Undetectable pattern electroretinogram OMIM:615860
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:2246
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
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Abnormal electroretinogram, Hypermetropia, Abnormality of vis... OMIM:616875
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Retinal Cone Dystrophy 3A
Abnormal light-adapted flicker electroretinogram, Nyctalopia, Reduced visual acuity, High myopia,... OMIM:610024
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Wide nasal bridge, Respiratory failure, Agenesis of corpus ... ORPHA:168486
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections, Respirat... OMIM:263000
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... OMIM:312170
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Photophobia, High myopia OMIM:614457
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... OMIM:613750
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity, Undetectable electroretinogram OMIM:613826
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... ORPHA:168491
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia ORPHA:231183
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Cone-Rod Dystrophy 2
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... OMIM:120970
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss, Abnormal electroretinogram OMIM:125310
Leber Congenital Amaurosis 7
Photophobia, Visual impairment, Undetectable electroretinogram OMIM:613829
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Bardet-Biedl Syndrome 16
Respiratory distress, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 50
Nyctalopia, Abnormal electroretinogram, Reduced visual acuity OMIM:613194
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Myopia OMIM:601455
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ... OMIM:207950
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment ORPHA:206443
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti... OMIM:304700
Mepan Syndrome
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Respiratory insufficiency, Respirato... OMIM:313420
Krabbe Disease
Abnormal flash visual evoked potentials, Blindness OMIM:245200
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Wide nose, Abnormal retinal morphology, Wide nasal bridge, Agenesis of corp... ORPHA:89844
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:619051
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia ORPHA:231169
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Friedreich Ataxia
Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... OMIM:229300
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Reduced visual acuity, Undetectable electroretinogram OMIM:609913
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79431
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy, Short nose OMIM:615042
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:370968
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
White-Sutton Syndrome
Myopia, Mild myopia, Abnormal electroretinogram, Hypermetropia, Abnormality of visual evoked pote... OMIM:616364
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... OMIM:618291
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Malaria
Respiratory distress, Retinopathy ORPHA:673
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopia, Abnormal electroretinogram ORPHA:1369
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Reduced visual acuity, Undetectable electroretinogram OMIM:600105
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Erythema, Wide na... OMIM:610015
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Hydrocephalus, Bronch... ORPHA:244
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cyanotic episode, Depressed nasal bridge ORPHA:284417
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... ORPHA:60032
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure, Abnormal p... OMIM:256000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Aplasia/Hypoplasia involving the nose, Absent nares, Holoprosencephaly, Age... ORPHA:990
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Abnormal electroretinogram ORPHA:2743
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Photophobia, Blindness, Visual loss ORPHA:206436
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum OMIM:202650
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Peho Syndrome
Undetectable visual evoked potentials OMIM:260565
Retinitis Pigmentosa 45
Nyctalopia, Abnormal electroretinogram, Peripheral visual field loss OMIM:613767
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials ORPHA:98755
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, Visual field defect,... ORPHA:166035
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Optic neuritis ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge ORPHA:1861
Hyperekplexia 4
Respiratory failure OMIM:618011
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Choanal atresia, Dyspnea, Wide nasal bridge, Respiratory failure ORPHA:2759
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Hydrocephalus, Respiratory failure, ... OMIM:616482
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Depressed nasal bridge, Optic atrophy, Telangiectasia, Retinopathy, Abnorma... OMIM:608799
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Optic atrophy, Congenital laryngeal stridor ORPHA:2254
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Acute Zonal Occult Outer Retinopathy
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... ORPHA:284454
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Respiratory failure, Death in childhood OMIM:619847
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Van Den Bosch Syndrome
Abnormal electroretinogram, High myopia ORPHA:3417
Tetrasomy 5P
Respiratory distress, Cyanosis, Anteverted nares, Hydrocephalus, Wide nasal bridge, Pulmonary art... ORPHA:3309
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79430
Succinic Acidemia
Respiratory distress OMIM:600335
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Nasal congestion, Tracheomalacia, Chron... ORPHA:137914
Leber Congenital Amaurosis 9
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:608553
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Pro... OMIM:123790
Odontochondrodysplasia
Respiratory distress, Death in infancy, Delayed eruption of teeth, Depressed nasal bridge, Short ... ORPHA:166272
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Anteverted nares, Optic atrophy, Respiratory failure OMIM:616505
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Chorioretinal dystrophy, Dyspnea, Optic atrophy, Respiratory failure, Abnor... ORPHA:2707
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation ORPHA:300570
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Convex nasal ridge OMIM:619793
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Abnormality of pattern visual evoked potentials, Visual impairment ORPHA:2822
Retinitis Pigmentosa 43
Nyctalopia, Abnormal electroretinogram, Peripheral visual field loss, Visual impairment OMIM:613810
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... OMIM:606763
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Decreased thalamic volume ORPHA:370959
Retinitis Pigmentosa
Blindness, Abnormal electroretinogram, Photophobia, Progressive night blindness, Visual impairment ORPHA:791
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Retinitis Pigmentosa 14
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Undetectable electror... OMIM:600132
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary... OMIM:220110
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Bulbous nose, Respiratory insufficiency, ... OMIM:608836
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... OMIM:616037
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Retinal pigment epithelial mottling, Depressed nasal bridge, Wide nasal bridge OMIM:617102
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares, Hydrocephalus, Lateral ventricle dilatation, Agenesis of ... OMIM:612863
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Chorioretinal lacunae, Retinal pigment epithelial mottling, Aspiration, Age... OMIM:618733
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Anteverted nares, Optic atrophy, Wide nasal bridge, Sh... OMIM:619383
Mpdu1-Cdg
Undetectable visual evoked potentials ORPHA:79323
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia ORPHA:231178
Hsd10 Disease, Infantile Type
Cyanosis, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Nyctalopia, Abnormal electroretinogram ORPHA:1390
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials ORPHA:423479
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Tr... OMIM:217980
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field, Undetectable electroretinogram OMIM:602772
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Breath-Holding Spells
Cyanosis OMIM:607578
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Single naris, Megalopapill... OMIM:615636
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Leber Congenital Amaurosis
Severely reduced visual acuity, Abnormal electroretinogram ORPHA:65
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction OMIM:208550
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Chitayat Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Tracheomalacia OMIM:617180
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Abnormal optic nerve morphology ORPHA:3226
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood OMIM:617186
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Wide nose, Retinal dystrophy, Choriore... ORPHA:2556
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Retinal dystrophy, Hydrocephalus OMIM:616538
Glycine Encephalopathy With Normal Serum Glycine
Anteverted nares, Apnea, Depressed nasal bridge, Optic atrophy, Respiratory failure OMIM:617301
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram, Visual impairment ORPHA:1154
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi... OMIM:613808
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Cyanosis ORPHA:488627
Metatropic Dysplasia
Respiratory failure, Depressed nasal bridge, Respiratory insufficiency OMIM:156530
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Depressed nasal bridge OMIM:617895
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
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
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Depressed nasal bridge, Inspiratory stridor, Irregular re... OMIM:604377
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Sandestig-Stefanova Syndrome
Convex nasal ridge, Wide nasal bridge, Respiratory failure OMIM:618804
Encephalopathy, Ethylmalonic
Abnormal retinal vascular morphology, Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Anteverted nares, Pneumothorax, Cardiorespiratory arrest, Holo... OMIM:619879
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Severely reduced visual acuity, Visual impairment OMIM:259720
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hydrocephalus, O... ORPHA:1555
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Degenerative vitreoretinopathy OMIM:607598
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Retinitis Pigmentosa 41
Nyctalopia, Peripheral visual field loss, Undetectable electroretinogram, Severely reduced visual... OMIM:612095
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Warburg Micro Syndrome 2
Undetectable visual evoked potentials OMIM:614225
Vitreoretinopathy, Neovascular Inflammatory
Blindness, Abnormal electroretinogram OMIM:193235
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... OMIM:615444
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... ORPHA:93259
Alg1-Cdg
Respiratory failure ORPHA:79327
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion ORPHA:3392
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Agenesis of corpus callosum ORPHA:137675
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Visual loss, Nyctalopia, Abnormal electroretinogram, Photophobia ORPHA:5
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Recurrent... ORPHA:314655
Joubert Syndrome 3
Lateral ventricle dilatation, Abnormal electroretinogram, Visual impairment OMIM:608629
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Isolated Atp Synthase Deficiency
Respiratory distress, Rod-cone dystrophy, Optic atrophy ORPHA:254913
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Dyspnea, Respiratory failure, Chylothorax, Pleural ... ORPHA:3015
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Depressed nasal bridge OMIM:614862
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Geleophysic Dysplasia 3
Depressed nasal bridge, Pneumonia, Anteverted nares, Dyspnea, Bulbous nose, Wide nasal bridge, Re... OMIM:617809
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency OMIM:609015
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Prolonged neonatal jaundice ORPHA:226313
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Respiratory distress ORPHA:544503
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respir... ORPHA:26791
Tricuspid Atresia
Cyanosis ORPHA:1209
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... ORPHA:141083
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Kniest Dysplasia
Respiratory distress, Retinal detachment, Depressed nasal bridge, Tracheomalacia OMIM:156550
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Retinal detachment, Cervical myelopathy, Restrictive ventilatory defect, Vi... OMIM:183900
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Leigh Syndrome
Optic atrophy, Respiratory failure, Abnormal optic nerve morphology, Agenesis of corpus callosum,... ORPHA:506
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Cryptococcosis
Respiratory distress, Abnormal retinal morphology, Pneumonia, Dyspnea, Hydrocephalus, Vitritis, A... ORPHA:1546
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein arms, Anosmia, Bronc... OMIM:244400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Gaucher Disease, Perinatal Lethal
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Neonatal death, Short nose... OMIM:608013
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Achondroplasia
Respiratory distress, Death in infancy, Depressed nasal bridge, Hydrocephalus, Upper airway obstr... OMIM:100800
Ramos-Arroyo Syndrome
Respiratory distress, Anteverted nares, Depressed nasal bridge, Absent retinal pigment epithelium... ORPHA:1051
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Wide nose, Recurrent pneumonia, Optic atrophy, Wide nasal bridge, Chorioret... OMIM:617303
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Short nose, Optic atrophy ORPHA:329178
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Retinal detachment, Wide nose, Recurrent upper respiratory tract infections... OMIM:607143
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Acrocyanosis, Petechiae ORPHA:51188
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge OMIM:157900
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Tracheomalaci... ORPHA:93260
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Depressed nasal bridge, Neonatal death OMIM:231680
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Hydrocephalus, Optic atroph... ORPHA:79282
Waardenburg Syndrome Type 3
Narrow nasal bridge, Acrocyanosis, Tracheomalacia ORPHA:896
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Delayed eruption of teeth OMIM:184260
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency ORPHA:746
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... OMIM:614935
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal bridge, Depressed nasal ridge, Respiratory insufficiency, T... OMIM:608022
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis... OMIM:620197
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Wide nasal bridge, Hypoplastic nasal tip ORPHA:3304
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Buerger Disease
Acrocyanosis ORPHA:36258
Usher Syndrome
Myopia, Blindness, Nyctalopia, Abnormal electroretinogram, Visual field defect, Progressive visua... ORPHA:886
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Cutis marmorata, Sinusitis, Asthma, Respiratory insufficiency, Urticaria, Cough,... ORPHA:183
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia, Undetectable electroretinogram OMIM:268100
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent nose OMIM:614407
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... OMIM:252010
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation ORPHA:79241
Japanese Encephalitis
Paucity of anterior horn motor neurons, Focal T2 hyperintense thalamic lesion, Abnormal thalamus ... ORPHA:79139
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis OMIM:617478
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Anteverted nares, Depressed nasal bridge, Repeated pneumothoraces, Hydrocep... ORPHA:536467
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Rodrigues Blindness
Narrow nasal bridge, Ectodermal dysplasia, Nasal flaring OMIM:268320
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Stridor,... ORPHA:505248
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Dyspnea, Palmoplantar ... ORPHA:363705
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Wide... OMIM:618188
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Respiratory distress, Anteverted nares, Prominent nose, Broad nasal tip, Lat... ORPHA:177907
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Opt... ORPHA:496641
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br... ORPHA:438216
Malignant Atrophic Papulosis
Telangiectasia of the skin, Pleural effusion, Abnormal optic nerve morphology, Respiratory failure ORPHA:679
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Anteverted nares, Depressed nasal bridge, Lateral ventricle dilatation, Respira... OMIM:300868
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Dravet Syndrome
Cyanotic episode ORPHA:33069
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory insufficiency, Ma... ORPHA:333
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Depressed nasal bridge OMIM:151210