| 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 |
| Åland 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 |
