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 |
Ã…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 |
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Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Retinitis Pigmentosa 41 |
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Nyctalopia, Peripheral visual field loss, Undetectable electroretinogram, Severely reduced visual... |
OMIM:612095 |
Mitochondrial Phosphate Carrier Deficiency |
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Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Abnormal thalamus morphology |
ORPHA:404440 |
Warburg Micro Syndrome 2 |
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Undetectable visual evoked potentials |
OMIM:614225 |
Vitreoretinopathy, Neovascular Inflammatory |
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Blindness, Abnormal electroretinogram |
OMIM:193235 |
Brain-Lung-Thyroid Syndrome |
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Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Ciliary Dyskinesia, Primary, 22 |
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Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... |
OMIM:615444 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:203700 |
Pfeiffer Syndrome Type 2 |
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Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... |
ORPHA:93259 |
Alg1-Cdg |
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Respiratory failure |
ORPHA:79327 |
Tularemia |
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Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion |
ORPHA:3392 |
Scedosporiosis |
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Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Respiratory distress, Optic atrophy |
ORPHA:79312 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials |
ORPHA:258 |
Slc35A1-Cdg |
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Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Pulmonary Arteriovenous Malformation |
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Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Niemann-Pick Disease, Type C2 |
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Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Histiocytoid Cardiomyopathy |
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Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Agenesis of corpus callosum |
ORPHA:137675 |
Lethal Recessive Chondrodysplasia |
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Respiratory distress |
ORPHA:1423 |
Cleft Larynx, Posterior |
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Aspiration, Cyanosis |
OMIM:215800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Respiratory distress |
ORPHA:240103 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Myopia, Visual loss, Nyctalopia, Abnormal electroretinogram, Photophobia |
ORPHA:5 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Recurrent... |
ORPHA:314655 |
Joubert Syndrome 3 |
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Lateral ventricle dilatation, Abnormal electroretinogram, Visual impairment |
OMIM:608629 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Death in infancy, Respiratory failure |
OMIM:610678 |
Pulmonary Capillary Hemangiomatosis |
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Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Isolated Atp Synthase Deficiency |
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Respiratory distress, Rod-cone dystrophy, Optic atrophy |
ORPHA:254913 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Death in infancy, Respiratory failure |
ORPHA:1194 |
Idiopathic Neonatal Atrial Flutter |
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Respiratory distress, Tachypnea |
ORPHA:45452 |
Radio-Renal Syndrome |
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Respiratory distress, Depressed nasal bridge, Dyspnea, Respiratory failure, Chylothorax, Pleural ... |
ORPHA:3015 |
Anaplastic Thyroid Carcinoma |
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Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Death in infancy, Respiratory failure, Depressed nasal bridge |
OMIM:614862 |
N-Acetylglutamate Synthase Deficiency |
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Respiratory distress |
OMIM:237310 |
Geleophysic Dysplasia 3 |
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Depressed nasal bridge, Pneumonia, Anteverted nares, Dyspnea, Bulbous nose, Wide nasal bridge, Re... |
OMIM:617809 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Pulmonary Alveolar Microlithiasis |
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Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Respiratory distress, Depressed nasal bridge, Prolonged neonatal jaundice |
ORPHA:226313 |
3P25.3 Microdeletion Syndrome |
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Abnormal thalamus morphology |
ORPHA:435638 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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Narrow nasal bridge, Short nose, Respiratory distress |
ORPHA:544503 |
Sepsis In Premature Infants |
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Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Depressed nasal bridge, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respir... |
ORPHA:26791 |
Tricuspid Atresia |
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Cyanosis |
ORPHA:1209 |
Nasolacrimal Duct Cyst |
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Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... |
ORPHA:141083 |
Congenital Laryngeal Web |
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Respiratory distress, Stridor |
ORPHA:2374 |
Cerebrotendinous Xanthomatosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:909 |
Kniest Dysplasia |
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Respiratory distress, Retinal detachment, Depressed nasal bridge, Tracheomalacia |
OMIM:156550 |
Mercury Poisoning |
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Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Spondyloepiphyseal Dysplasia Congenita |
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Respiratory distress, Retinal detachment, Cervical myelopathy, Restrictive ventilatory defect, Vi... |
OMIM:183900 |
New-Onset Refractory Status Epilepticus |
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Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Cockayne Syndrome B |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:133540 |
Congenital Diaphragmatic Hernia |
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Hypoxemia, Respiratory distress |
ORPHA:2140 |
Cockayne Syndrome A |
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Abnormality of visual evoked potentials, Hypermetropia |
OMIM:216400 |
Amyotrophic Lateral Sclerosis |
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Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Thyroid Lymphoma |
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Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Congenital Myopathy 10B, Mild Variant |
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Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Leigh Syndrome |
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Optic atrophy, Respiratory failure, Abnormal optic nerve morphology, Agenesis of corpus callosum,... |
ORPHA:506 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal thalamus morphology |
ORPHA:88619 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Respiratory distress |
OMIM:616733 |
Cryptococcosis |
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Respiratory distress, Abnormal retinal morphology, Pneumonia, Dyspnea, Hydrocephalus, Vitritis, A... |
ORPHA:1546 |
Muscular Dystrophy, Duchenne Type |
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Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein arms, Anosmia, Bronc... |
OMIM:244400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Gaucher Disease, Perinatal Lethal |
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Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Neonatal death, Short nose... |
OMIM:608013 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Achondroplasia |
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Respiratory distress, Death in infancy, Depressed nasal bridge, Hydrocephalus, Upper airway obstr... |
OMIM:100800 |
Ramos-Arroyo Syndrome |
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Respiratory distress, Anteverted nares, Depressed nasal bridge, Absent retinal pigment epithelium... |
ORPHA:1051 |
Mucopolysaccharidosis-Plus Syndrome |
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Respiratory distress, Wide nose, Recurrent pneumonia, Optic atrophy, Wide nasal bridge, Chorioret... |
OMIM:617303 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... |
OMIM:610505 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Respiratory distress, Short nose, Optic atrophy |
ORPHA:329178 |
Congenital Disorder Of Glycosylation, Type Ig |
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Respiratory distress, Retinal detachment, Wide nose, Recurrent upper respiratory tract infections... |
OMIM:607143 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Ethylmalonic Encephalopathy |
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Retinal vascular tortuosity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Proximal Spinal Muscular Atrophy |
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Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Moebius Syndrome |
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Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge |
OMIM:157900 |
Leptin Receptor Deficiency |
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Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Pfeiffer Syndrome Type 3 |
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Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Tracheomalaci... |
ORPHA:93260 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Jaundice, Depressed nasal bridge, Neonatal death |
OMIM:231680 |
Myotubular Myopathy With Abnormal Genital Development |
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Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Hydrocephalus, Optic atroph... |
ORPHA:79282 |
Waardenburg Syndrome Type 3 |
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Narrow nasal bridge, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Odontochondrodysplasia 1 |
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Respiratory distress, Death in infancy, Delayed eruption of teeth |
OMIM:184260 |
Boutonneuse Fever |
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Respiratory failure, Petechiae |
ORPHA:83313 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Ciliary Dyskinesia, Primary, 19 |
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Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... |
OMIM:614935 |
Diaphanospondylodysostosis |
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Respiratory distress, Depressed nasal bridge, Depressed nasal ridge, Respiratory insufficiency, T... |
OMIM:608022 |
Nephronophthisis 2 |
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Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Complete Atrioventricular Septal Defect |
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Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Congenital Tricuspid Valve Dysplasia |
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Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Chorioretinal hyperpigmentation, Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:618329 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis... |
OMIM:620197 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Cyanosis, Wide nasal bridge, Hypoplastic nasal tip |
ORPHA:3304 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Double Outlet Right Ventricle |
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Tachypnea, Cyanosis, Depressed nasal bridge |
ORPHA:3426 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Usher Syndrome |
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Myopia, Blindness, Nyctalopia, Abnormal electroretinogram, Visual field defect, Progressive visua... |
ORPHA:886 |
Eosinophilic Granulomatosis With Polyangiitis |
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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 |