Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... |
ORPHA:171703 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Recurrent bronchopulmonary infections, Agenesis of corpus callosum, Death in infancy |
ORPHA:85334 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Cleft palate, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesis of c... |
OMIM:616570 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... |
OMIM:611603 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Thick vermilion border... |
OMIM:617090 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Tracheomalacia, Atelectasis, Blepharophimosis, Acrocyanosis, Downslanted palpebral f... |
ORPHA:896 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum... |
ORPHA:85179 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... |
OMIM:619302 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o... |
OMIM:620200 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Cyanosis, Apnea, Neonatal respiratory distress, Ast... |
ORPHA:2257 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Everted lower lip vermilion, Inf... |
OMIM:618959 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... |
OMIM:619301 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Unilateral cryptorchidism, Long philtrum, Agenesis of corpus callosum, Thin corpu... |
OMIM:618286 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High... |
OMIM:304100 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bilateral ptosis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Recurrent respiratory infections, Periventricular leukomalacia, Agenesis of c... |
OMIM:618324 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... |
OMIM:613153 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Lobulated tongue, Molar toot... |
OMIM:617127 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly |
OMIM:616540 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph... |
ORPHA:171680 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Triangular mouth, A... |
ORPHA:166024 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood |
OMIM:613163 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:303350 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Ptosis |
OMIM:255320 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Recurrent respiratory infections, Microcephaly, Abnormal globus pallidus morphology, Cleft palate... |
OMIM:618603 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism, Simplified gyral pattern, Primary microcephaly, Open mouth, Agenesis of corpus ca... |
OMIM:616681 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer |
OMIM:619101 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Mild malformation of cortical development, Dysplastic corpus callos... |
ORPHA:500166 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Thin upper lip vermilion, Microcephaly, Partial agenesis of the corpus callos... |
OMIM:616212 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre... |
ORPHA:254875 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar gliosis, Cere... |
ORPHA:79243 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Perisylvian... |
OMIM:600118 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Long philtrum |
ORPHA:1621 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia, Ptosis |
OMIM:617468 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Gliosis... |
ORPHA:168486 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Agenesis of corpus callosum |
OMIM:619548 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V... |
OMIM:614120 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Microcephaly, Cryptorchidism, Thin vermilion border, Narrow mouth, Parietal cortical atrophy, Fro... |
OMIM:618766 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... |
OMIM:616342 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypo... |
ORPHA:255138 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... |
OMIM:178550 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ... |
OMIM:617542 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
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 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Agenesis of corpus callosum |
OMIM:610245 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Microcephaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of ... |
ORPHA:2512 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu... |
OMIM:619517 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Dyspnea, Respiratory failure,... |
ORPHA:2759 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Carious te... |
OMIM:214150 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebel... |
OMIM:225790 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, High palate, Gliosis, Lissencephaly, Long philtrum, Long upper lip, Pac... |
OMIM:300215 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pterygium, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Pontocerebellar Hypoplasia, Type 11 |
|
Recurrent respiratory infections, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hy... |
OMIM:617695 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Molar too... |
OMIM:614815 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha... |
OMIM:614833 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Hydr... |
OMIM:620156 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ptosis |
OMIM:618637 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Glycine Encephalopathy 1 |
|
Death in infancy, Agenesis of corpus callosum |
OMIM:605899 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Exaggerated cupid's bow, Cryptorchidism, Dysgenesis of the basal ganglia, High palate, Cerebellar... |
OMIM:620316 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Downslante... |
OMIM:611890 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Cleft palate, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:164180 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cleft palate, Short philtr... |
OMIM:619074 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Long philtrum... |
OMIM:618577 |
Thanatophoric Dysplasia |
|
Downslanted palpebral fissures, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Holoprosencephaly 11 |
|
Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum |
OMIM:610498 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Lissencephaly, Secondary microcephaly, Lon... |
OMIM:614583 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Narrow palpebral fissure, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, High palate, Short philtrum, Agenesis of corpus callosu... |
OMIM:615433 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Telecanthus, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border, Short philtrum,... |
ORPHA:238750 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Cyanosis, Upslanted palpebral... |
ORPHA:3309 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis |
OMIM:300580 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
6Q25 Microdeletion Syndrome |
|
Microcephaly, Cleft palate, High palate, Long philtrum, Agenesis of corpus callosum, Ventriculome... |
ORPHA:251056 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Marden-Walker Syndrome |
|
Microcephaly, High, narrow palate, Cryptorchidism, Pyloric stenosis, Cleft palate, Hypoplasia of ... |
OMIM:248700 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Abnormal lung lobation, Pulmonary hypoplasia, Telecanthus |
OMIM:263210 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Pyloric stenosis, Chiari type I malformation, Hypoplasia of the co... |
OMIM:218350 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal salivary gland morphology |
ORPHA:31 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Ptosis, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Respiratory ... |
ORPHA:98913 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... |
OMIM:616819 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough |
ORPHA:142 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Dyspnea, Abnormal pulmonary interstitial morphology, Diffuse re... |
OMIM:607616 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Cryp... |
OMIM:619244 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Dyspnea, Pneumothorax, Pulmonar... |
ORPHA:538 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg... |
OMIM:615286 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Ventriculomegaly, Tented upper lip vermilion, Exaggerated cupid's bow, Cerebellar vermis hypoplas... |
OMIM:619720 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Fg Syndrome 3 |
|
Chiari type I malformation, Death in infancy, Agenesis of corpus callosum |
OMIM:300406 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Thick lower lip vermilion, Primary microcephaly, Agen... |
ORPHA:466688 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplas... |
ORPHA:89844 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Cerebral atrophy, Basal ganglia cysts, Long philtrum, Agenesis of corpus callosum, ... |
OMIM:312170 |
Tonne-Kalscheuer Syndrome |
|
Downslanted palpebral fissures, Pulmonary hypoplasia |
OMIM:300978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Cleft upper lip, Microcephaly, Hydrocephalus, Partial absen... |
OMIM:613150 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Thin upper lip vermilion, Microcephaly, Wide mouth, Agenesis of corpus callosum, Smooth philtrum |
OMIM:619989 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpus callosum, Alveolar ridge... |
OMIM:618346 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Abnormality of the dentition |
ORPHA:2101 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... |
OMIM:618042 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o... |
OMIM:617669 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S... |
ORPHA:500144 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum, Dental malocclusion |
OMIM:615314 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Diffuse white matter abnormalities, High palate, Agenesis of corpus ... |
OMIM:218000 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Open ... |
OMIM:616362 |
Diaphanospondylodysostosis |
|
Respiratory distress, Epicanthus, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia |
OMIM:608022 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... |
OMIM:607196 |
Multiple Pterygium Syndrome, X-Linked |
|
Epicanthus, Pulmonary hypoplasia, Multiple pterygia |
OMIM:312150 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Chiari type I malformation, Hypoplasia of the corpus callosum, Narrow m... |
OMIM:613735 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the pons, High palate, Cerebellar hypoplasia, Age... |
ORPHA:1493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly... |
OMIM:615249 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:1046 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... |
OMIM:616037 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Aspiratio... |
ORPHA:314655 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Conical tooth, Abnormality of the dentition, Crypto... |
ORPHA:228390 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Palpebral edema, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Microdontia, Agenesis of corpus callosum |
OMIM:619955 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Intrauterine growth... |
ORPHA:521308 |
Congenital Myopathy 17 |
|
Telecanthus, Respiratory tract infection, Respiratory insufficiency, Pulmonary hypoplasia, Downsl... |
OMIM:618975 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Cerebellar vermis hypoplasia, Dysplastic cor... |
OMIM:616900 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, High palate, Microcephaly |
OMIM:245349 |
Emanuel Syndrome |
|
Dental crowding, High palate, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker malformation... |
ORPHA:96170 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Pulmonary hypoplasia |
ORPHA:3035 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Neonatal respiratory distress, Multiple pterygia, Abnormal eyelid morpho... |
ORPHA:2990 |
Microphthalmia, Syndromic 9 |
|
Blepharophimosis, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insuff... |
OMIM:601186 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Lissencephaly, Agene... |
ORPHA:99742 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... |
OMIM:614742 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... |
ORPHA:96179 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Intrauterine growth retardati... |
OMIM:616258 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Pulmonary hypoplasia, Multiple pterygia |
OMIM:253290 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... |
ORPHA:210136 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... |
OMIM:207950 |
Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cryptorchid... |
ORPHA:899 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Long philtrum |
OMIM:300887 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:1865 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Pulmonary hypoplasia, Downs... |
OMIM:145420 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Pulmonary hypoplasia |
ORPHA:250999 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Partial agenesis of the corpus callosum, Macro... |
OMIM:619775 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Triangular mouth, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
OMIM:607131 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... |
OMIM:619602 |
Kagami-Ogata Syndrome |
|
Blepharophimosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Short palpebral fissure |
OMIM:608149 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary cent... |
OMIM:136760 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Highly arched eyebrow, Synophrys, Pulmonary hypoplasia, Pulmona... |
OMIM:618316 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Aspergillosis |
|
Sinusitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dacryocystitis, C... |
ORPHA:1163 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, High palate, Hypodontia, Agenesis of corpus callosum, Anal atresia |
OMIM:616854 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... |
ORPHA:2038 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... |
OMIM:604360 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Dyspnea, Upslanted palpebral fissu... |
ORPHA:2707 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Microcephaly, Hydrocephalus, T... |
ORPHA:238769 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned... |
OMIM:619320 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac... |
ORPHA:141083 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Foxg1 Syndrome |
|
Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph... |
ORPHA:561854 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Pulmonary hypoplasia, Telecanthus |
OMIM:616897 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220497 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Epicanthus |
OMIM:614741 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypo... |
ORPHA:1827 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis, Ptosis |
OMIM:615636 |
Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death |
OMIM:269860 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Hydrolethalus |
|
Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly... |
ORPHA:2189 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... |
OMIM:613177 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Maternal Uniparental Disomy Of Chromosome X |
|
Thin vermilion border, Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Microcephaly, High palate, Lissencephaly, Hypoplasia of the corpus callosum, Intrauterine growth ... |
OMIM:618142 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Narrow mouth, Aplasia/Hypoplasia of the cerebellum, Microglossia, Agenesis of ... |
ORPHA:990 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, High palate, Thick vermilion border, Hypop... |
OMIM:620113 |
Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Narrow palate, Wide mouth, Mild fetal ventriculomegaly, High palate, Thick vermil... |
OMIM:619435 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Abnormality of the dentition, Microcephal... |
OMIM:615802 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Orofacial cleft, Ap... |
ORPHA:3301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissen... |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Da... |
OMIM:236670 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Agenesis of corpus callosum, Short philtrum |
ORPHA:93267 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Microcephaly, Recurrent pneumonia, Cleft palate, Furrowed tongue, Cer... |
OMIM:616449 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... |
ORPHA:420741 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Protruding tongue, Microcephaly, Thick vermilion border, Pleural effusi... |
ORPHA:1446 |
Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Microcephaly, Cryptorchidism, Orofacial cleft, Wide mo... |
OMIM:243310 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Braddock-Carey Syndrome 1 |
|
Microcephaly, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Thick vermilion border... |
OMIM:619980 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:616239 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen... |
OMIM:618779 |
Temtamy Syndrome |
|
Dental crowding, Thick corpus callosum, Hypoplasia of teeth, Long philtrum, Agenesis of corpus ca... |
OMIM:218340 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Microc... |
OMIM:619148 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Ptosis |
OMIM:256000 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum, Tracheoesophageal fistula |
OMIM:619083 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:452 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis |
OMIM:613561 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Probst bundles, High, narrow palate, Hydrocephalus, Submucous cleft har... |
OMIM:612863 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ... |
ORPHA:98905 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencep... |
OMIM:613001 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... |
ORPHA:300570 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon... |
OMIM:620352 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Megarectum, Global brain atrophy, Hypodonti... |
OMIM:301056 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Cleft palate, Widely spaced teeth, Agenesis of corpu... |
ORPHA:459061 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:474 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Respiratory insufficiency, Respiratory failure, Neonatal death, Ptosis |
OMIM:618186 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
Desmosterolosis |
|
Intestinal malrotation, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydro... |
ORPHA:35107 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Cerebral calcification, Hydrocephalus, Chiari type I malformation, Ce... |
OMIM:618476 |
Melioidosis |
|
Lung abscess, Pneumonia, Respiratory tract infection, Acute infectious pneumonia, Abnormal paroti... |
ORPHA:31202 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis |
OMIM:619879 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... |
ORPHA:101030 |
Fryns Syndrome |
|
Ventriculomegaly, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal... |
ORPHA:2059 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Ptosis |
OMIM:614669 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220493 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Colpocephaly, Hypoplasia of the corpus callosum, Agene... |
OMIM:618619 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Microcephaly, Supernumerary tooth, Abnormal pituitar... |
ORPHA:314621 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Tented upper lip vermilion, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosu... |
OMIM:620001 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Short palpebral fissure |
OMIM:251230 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Ptosis |
ORPHA:352447 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Aganglionic megacol... |
OMIM:174300 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow mouth, Partial agenesis of the corpus callosum, Narrow palate, Hypoplasia of teeth, Wide m... |
OMIM:620250 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Erythema, Conjunctivitis, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Thin upper lip vermilion, Periventricular leukomalacia, Short lingual ... |
OMIM:617360 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Cryptorchidism, High palate, Inferior cerebellar vermis hypoplasia, Agenesis of cor... |
ORPHA:139471 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Upslanted palpebral fissure, Downslanted palpebral fissures, Pulmonary hypoplasia |
OMIM:612530 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Narrow palpebral fissure, Cyanosis, Tachypnea |
ORPHA:3426 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hyperintensity of cerebral white matter on MRI, Hypoplasia of the brainstem, Thin vermilion borde... |
ORPHA:481152 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Supernumerary nipple, Aplasia/Hypoplasia of the cerebellum, Cr... |
ORPHA:1812 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Trisomy 1Q |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Cerebellar hypoplasia, Narrow mout... |
ORPHA:261344 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Absent septum pellucidum, Optic nerve hypop... |
ORPHA:3157 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Neonatal respiratory distress, Bilateral ptosis, Neck pterygia, Antecubital pterygium... |
OMIM:265000 |
Toriello-Carey Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Microcephaly, Cryptorchidism, Partial agenesis of the co... |
ORPHA:3338 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Upslanted palpebral fissure, Death in infancy, Epicanthus inversus, Respiratory failure |
OMIM:614862 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High ... |
OMIM:618929 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Absent septum pellucidum, Alobar holopros... |
OMIM:619895 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... |
OMIM:609053 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Megalencephaly, Li... |
OMIM:601707 |
Al Amyloidosis |
|
Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution co... |
ORPHA:85443 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Thick lower lip vermilion, Orofacial cleft, Cleft palate, Short upp... |
ORPHA:1692 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh... |
ORPHA:468631 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Upslanted palpeb... |
OMIM:619383 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio... |
OMIM:182230 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Zygomycosis |
|
Sinusitis, Epistaxis, Rhinorrhea, Atelectasis, Pneumothorax, Chemosis, Acute infectious pneumonia... |
ORPHA:73263 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Bilateral ptosis, Respirato... |
ORPHA:98915 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Acrocephalopolydactylous Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Blepharophimosis |
ORPHA:2570 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Agenesis of corpus callosum |
OMIM:147950 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Neonatal respiratory distress, Upslanted palpebral fissure, Death in childhood, Pulmo... |
OMIM:214100 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Cleft upper lip, Microcephal... |
ORPHA:261236 |
Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert... |
OMIM:618872 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... |
OMIM:253800 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Pulmonary hypoplasia, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Synophrys, Pulmonary hypoplasia, Pleural effusion, Downslanted palpebral fi... |
OMIM:620369 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure, Ptosis |
ORPHA:679 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus... |
ORPHA:314679 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Microcephaly, Hydrocephalus, High palate, Long philtrum, Intrauterine growth retardation, Agenesi... |
OMIM:612940 |
Czeizel-Losonci Syndrome |
|
Upslanted palpebral fissure, Pulmonary hypoplasia |
ORPHA:2437 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Cleft upper lip, Hydrocephalus, High palate, Narrow ... |
OMIM:612582 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea, Ptosis |
OMIM:615838 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Nasa... |
ORPHA:183 |
Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia, Short palpebral fissure, Thick eyebrow |
ORPHA:2886 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Immunodeficiency 49 |
|
Natal tooth, Reduced cerebral white matter volume, Pulmonary artery stenosis, Short philtrum, Age... |
OMIM:617237 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Microcephaly, Panhypopituitarism, Orofacial cleft, Cleft palate, Shor... |
ORPHA:280200 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hypodysplasia of the corpus callosum, Microcephaly, Cryptorchidism, Hydrocephal... |
OMIM:257300 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Abnormal lung lobation, Respiratory insufficiency, Anomalous pulmonary venous r... |
ORPHA:1120 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Microcepha... |
OMIM:605039 |
Renal Agenesis, Bilateral |
|
Epicanthus, Pulmonary hypoplasia |
ORPHA:1848 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Apert Syndrome |
|
Delayed eruption of teeth, Absent septum pellucidum, Esophageal atresia, Hydrocephalus, Narrow pa... |
ORPHA:87 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tong... |
OMIM:311200 |
Halperin-Birk Syndrome |
|
Colpocephaly, High palate, Thick vermilion border, Intrauterine growth retardation, Agenesis of c... |
OMIM:618651 |
Sandestig-Stefanova Syndrome |
|
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Respiratory failure, Sparse medial... |
OMIM:618804 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Emphysema... |
ORPHA:31204 |
Acro-Renal-Mandibular Syndrome |
|
Downslanted palpebral fissures, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Cryptorchidism, High palate, Broad alveolar ridges, Agenesis of corpus callosum |
OMIM:300004 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... |
OMIM:601559 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas... |
ORPHA:252183 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Cleft upper lip, Rectourethral fistula, C... |
OMIM:300000 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Microcephaly, Macroglossia, Everted lower lip vermilion, Agenesis of ... |
ORPHA:261144 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
Atelosteogenesis Type I |
|
Telecanthus, Pulmonary hypoplasia |
ORPHA:1190 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... |
OMIM:620025 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... |
OMIM:208500 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Pore... |
OMIM:277170 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Protruding tongue, Microcephaly, Cryptorchidism, Downturned corners of ... |
ORPHA:96147 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:616300 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Genitopatellar Syndrome |
|
Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Thin upper lip vermilion, Microcephaly, Short philtrum, Intrauterine growth retardation, Agenesis... |
OMIM:612337 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Desmosterolosis |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth, ... |
OMIM:602398 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, C... |
OMIM:264480 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, Anteriorly placed anus, Chiari ma... |
OMIM:123790 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, narrow palate, Recurrent... |
ORPHA:464738 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Hypopituitarism, Optic nerve hypoplasia, Cleft ... |
OMIM:603671 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera... |
ORPHA:261494 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... |
ORPHA:449432 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Absent septum pellucidum, Focal polymicrogyri... |
OMIM:612651 |
Lethal Congenital Contracture Syndrome 10 |
|
Downslanted palpebral fissures, Pulmonary hypoplasia |
OMIM:617022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide mouth, Everted lower li... |
ORPHA:96092 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Microcephaly, Thick lower lip vermilion, C... |
OMIM:614609 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Recurrent pneumonia, Bifid uvula, High palate, Agenesis of corpus callo... |
OMIM:300472 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Mic... |
ORPHA:2745 |
Chromosome 5P13 Duplication Syndrome |
|
Downturned corners of mouth, High palate, Agenesis of corpus callosum, Short philtrum |
OMIM:613174 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Recurrent bronch... |
OMIM:617303 |
Lethal Congenital Contracture Syndrome 9 |
|
Antecubital pterygium, Axillary pterygium, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dental crowding, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dil... |
OMIM:617296 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Microcephaly, High, narrow palate, Wide mouth, High pa... |
OMIM:619312 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Holoprosencephaly, ... |
ORPHA:77298 |
Distal Triplication 15Q |
|
Telecanthus, Pulmonary hypoplasia |
ORPHA:314588 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Chand Syndrome |
|
Atelectasis, Ankyloblepharon |
ORPHA:1401 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cryptorchidism, Secondary microcephaly, Hypoplasia of the corpus ca... |
OMIM:620073 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu... |
OMIM:220110 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Microcephaly, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Downtu... |
OMIM:217980 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sparse eye... |
OMIM:614748 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Microcephaly... |
ORPHA:363528 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba... |
OMIM:610828 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Entropion, Abnormal pleura morphology, Er... |
ORPHA:537 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Microcephaly, Deep philt... |
OMIM:617260 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Supernumerary nipple, Cryptorchidism, Partial agenesis of the corpus callosum, Thin vermilion bor... |
OMIM:618109 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio... |
ORPHA:228308 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Cerebral calcificatio... |
OMIM:617281 |
Atelosteogenesis Type Ii |
|
Tracheobronchomalacia, Epicanthus, Pulmonary hypoplasia, Telecanthus |
ORPHA:56304 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum, Intestinal malrotation, Ventriculomegaly |
ORPHA:1553 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal... |
ORPHA:1780 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, ... |
OMIM:249000 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Exaggerated cupid's bow, Microcephaly, Aqueductal stenosis, ... |
OMIM:619512 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Holoprosencephaly, Solitary median maxillary central incisor, In... |
ORPHA:556955 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Ptosis |
OMIM:617239 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:181000 |
Raine Syndrome |
|
Death in infancy, Highly arched eyebrow, Pulmonary hypoplasia, Neonatal death, Downslanted palpeb... |
OMIM:259775 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Downslanted palpebral fissures, Telangiectasia |
OMIM:608799 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Upslante... |
ORPHA:496641 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:93274 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Agenesis of corpus callosum, Prominent ... |
OMIM:200990 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Ventriculomegaly, Cerebellar vermis hypoplasia, Intestinal malrotati... |
OMIM:620305 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Long eyelashes, Short palpebral fissure, Pulmonary ... |
ORPHA:79330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2671 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Abnormal eyelid morphology, Erythem... |
ORPHA:221 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Deep philtrum, High palate, Short philtrum, Macroorchi... |
OMIM:309520 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, High pala... |
OMIM:606812 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Apert Syndrome |
|
Delayed eruption of teeth, Absent septum pellucidum, Megalencephaly, Cryptorchidism, Hydrocephalu... |
OMIM:101200 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microc... |
OMIM:301043 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
15Q Overgrowth Syndrome |
|
Dental crowding, High, narrow palate, Hydrocephalus, High palate, Intrauterine growth retardation... |
ORPHA:314585 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Purpura, Abnormal eyelid morphology, Atelectasis, Asthma, Chronic pulmon... |
ORPHA:567 |
Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstructi... |
ORPHA:125 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Agenesis of corpus callosum, Cleft palate |
ORPHA:52055 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Aplastic/hypo... |
OMIM:612289 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Respiratory distress |
OMIM:606164 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Entropion, Sparse eyelashes, Absent eyelashes, Sparse eyebro... |
OMIM:275210 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ... |
ORPHA:506 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Microcephaly, Cleft lip, Cleft palate, Hypopl... |
ORPHA:97297 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Cleft upper lip, Hiatus hernia, Pachygyria, Partial a... |
OMIM:304050 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Ogden Syndrome |
|
Epicanthus, Prematurely aged appearance, Apnea, Facial wrinkling, Abnormal eyelid morphology, Spa... |
OMIM:300855 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi... |
ORPHA:563612 |
1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, High palate, Long philt... |
ORPHA:250989 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema |
ORPHA:31826 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Long eyelashes, Apnea, Ptosis |
OMIM:617301 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, High palate,... |
OMIM:618500 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... |
OMIM:602535 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary g... |
ORPHA:2298 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... |
ORPHA:157 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Agenesi... |
OMIM:613091 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Pulmonary hypoplasia |
OMIM:614080 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Recurrent uppe... |
ORPHA:1465 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
Oligomeganephronia |
|
Optic disc coloboma, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S... |
OMIM:615948 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Vici Syndrome |
|
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cerebellar vermi... |
OMIM:242840 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2635 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... |
ORPHA:64744 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism,... |
ORPHA:434179 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Absence of Stensen duct, Decreased response to growth hormone s... |
OMIM:129900 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Cryptorchidism, Cleft palate, Macrogyria, Colpocephaly, High palate, Hypoplas... |
OMIM:614866 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Epicanthus, Recurrent upper respiratory tract infections, Recurrent pneumonia |
OMIM:607143 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93299 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Abnormal eyelid morphology,... |
ORPHA:647 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Trisomy 8P |
|
Microcephaly, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnorm... |
ORPHA:264450 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure |
ORPHA:26791 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Microcephaly, Bilateral cryptorchidism,... |
OMIM:613457 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Marden-Walker Syndrome |
|
Abnormal cerebellar vermis morphology, Absent septum pellucidum, Microcephaly, Pyloric stenosis, ... |
ORPHA:2461 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2145 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Optic disc coloboma, Respiratory insufficiency, Restrictive ventilatory de... |
ORPHA:536471 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... |
ORPHA:79078 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Anterior pituitary hypoplasia, Decreased response to growth hormone s... |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Telecanthus |
OMIM:617102 |
Sotos Syndrome |
|
High, narrow palate, Partial agenesis of the corpus callosum, Cryptorchidism, Narrow palate, High... |
OMIM:117550 |
Alg9-Cdg |
|
Telecanthus, Asthma, Abnormal lung lobation, Pulmonary hypoplasia, Shallow orbits |
ORPHA:79328 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Narrow palate, Basal ganglia cysts, H... |
OMIM:608836 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Abnormality of the dentition, Microcephaly, Dysplastic corpus call... |
OMIM:151050 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Shallow orbits, Death in childhood, Chronic lung disease |
OMIM:613848 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thin upper lip vermilion, Dental crowding, Microcephaly, Thick lower lip vermilion, Downturned co... |
ORPHA:261323 |
Right Atrial Isomerism |
|
Pulmonary artery atresia, Agenesis of corpus callosum, Abnormal lung lobation, Total anomalous pu... |
OMIM:208530 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic corpus callosu... |
OMIM:618820 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Keratoconjunctivitis |
ORPHA:79242 |
Trichothiodystrophy |
|
Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Carious teeth, Recurrent bro... |
ORPHA:33364 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Stillbirth, Pulmonary hypoplasia, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:208150 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed er... |
OMIM:300952 |
Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Epicanthus |
OMIM:157900 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate, Polycystic ovaries, Cerebellar malformation, Agenesis of corpus call... |
ORPHA:137675 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Respiratory insufficiency |
ORPHA:1860 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Epicanthus, Pulmonary hypoplasia, Blepharophimosis, Downslanted palpebral f... |
ORPHA:83617 |
Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Cough, Ptosis |
ORPHA:169105 |
Sarcoidosis |
|
Abnormal pleura morphology, Abnormal lung morphology, Pneumothorax, Enlarged lacrimal glands, Bro... |
ORPHA:797 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Pulmonary hypoplasia |
ORPHA:50945 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Pleural effusion, Abnormal pulmonary interstitial morphology, Oral ... |
ORPHA:50918 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Ptosis |
ORPHA:254913 |
Fryns Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic meg... |
OMIM:229850 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure |
ORPHA:438216 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Partial agenesis of the corp... |
ORPHA:50 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the dentition, Microcephaly, Cr... |
ORPHA:847 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyelashes, Absent eyebrow, Respiratory failure, Fragile skin |
ORPHA:158687 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Upsla... |
ORPHA:534 |
Otopalatodigital Syndrome Type 2 |
|
Downslanted palpebral fissures, Pulmonary hypoplasia |
ORPHA:90652 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Cryptorchidism, Partial ... |
OMIM:305450 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Downslanted palpebral... |
OMIM:610536 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormality of the philtrum, Cleft upper lip, Microcephaly, Cry... |
ORPHA:280 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Microcephaly, High palate, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:619418 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Hypoplasia of t... |
OMIM:234050 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Erythema, Pulmonary hypoplasia |
OMIM:308050 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Intestinal malrotation, Spina bifida, Cryptor... |
ORPHA:2308 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Intestinal malrotation, Apl... |
OMIM:222448 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged lacrimal glan... |
ORPHA:449563 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp... |
OMIM:309801 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Pulmonary hypoplasia |
OMIM:200980 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Cyanosis, Downslanted palpebral fissures |
ORPHA:3304 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom... |
ORPHA:805 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cutis marmorata, Abnormal eyelash morphology, Abnormal lung lobation, Upslanted palpe... |
ORPHA:818 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis |
ORPHA:36234 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis |
ORPHA:533 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Abnormal lun... |
OMIM:236680 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Dysplastic corpus callosum, Secondary microcephaly, Death in childhood |
OMIM:619423 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Stridor, Long ey... |
ORPHA:505248 |
Alexander Disease |
|
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, High palate, Agenesis... |
ORPHA:58 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Death in childhood |
OMIM:604273 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Cerebellar gliosis, Periventricular cysts, Increased caudate lacta... |
ORPHA:3008 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... |
OMIM:123700 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Spina bifida, Swollen lip, Cleft upper lip, Cryptorchidism, Thick lower lip ver... |
OMIM:256520 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Alobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... |
ORPHA:220386 |
Birk-Landau-Perez Syndrome |
|
Intrauterine growth retardation, Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:617595 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus... |
ORPHA:781 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Epicanthus, Prominent superficial veins, Dyspnea, Lower eyelid edema, Palmo... |
ORPHA:363705 |
Hartsfield Syndrome |
|
Median cleft lip, Alobar holoprosencephaly, Cleft upper lip, Cryptorchidism, Microcephaly, Gonado... |
OMIM:615465 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Absent septum pellucidum, Supernumerary nipple, Cryptorchidism, Deep ph... |
OMIM:613884 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... |
ORPHA:352665 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Respir... |
OMIM:252010 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Retinal coloboma, Pulmonary hypoplasia |
OMIM:616546 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula, Orofacial cleft |
ORPHA:268249 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Short palpebral fissure |
OMIM:300968 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Pagod Syndrome |
|
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... |
ORPHA:991 |
Xp21 Deletion Syndrome |
|
Everted lower lip vermilion, Agenesis of corpus callosum |
ORPHA:261476 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonar... |
ORPHA:228116 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... |
ORPHA:90068 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Abnormal lung... |
OMIM:270400 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Long eyebrows |
OMIM:614407 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Eyelid fasciculation, Abnorma... |
ORPHA:79139 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:506358 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Partial age... |
OMIM:300373 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Long eyelashes, Blepharophimosis, Emphysema, Short palpeb... |
OMIM:224690 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis, Ble... |
OMIM:188400 |
Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Respiratory distress |
ORPHA:98805 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas... |
OMIM:619179 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Cleft palate, High palate, Agenesis of corpus callosum, Decreased testicular size |
ORPHA:96061 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia, Thin eyebrow |
OMIM:617063 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary... |
ORPHA:3260 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Absent septum pellucidum, Hiatus hernia, Abnormal cortical gyration, Esop... |
ORPHA:2538 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Partial anomalous pulmonary venous ret... |
OMIM:617478 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Cryptorchidism, Vo... |
OMIM:267000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Craniofrontonasal Syndrome |
|
Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Cleft palate, Agenesis of corpus c... |
OMIM:304110 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Mgat2-Cdg |
|
Downslanted palpebral fissures, Recurrent upper and lower respiratory tract infections, Long eyel... |
ORPHA:79329 |
Oromandibular Dystonia |
|
Blepharospasm, Respiratory distress |
ORPHA:93958 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Vacterl With Hydrocephalus |
|
Pulmonary hypoplasia |
ORPHA:3412 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i... |
OMIM:164310 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epicanthus, Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory f... |
ORPHA:96334 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Epicanthus |
ORPHA:2519 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Absent septum pellucidum, High, narrow palate, Hydrocephalus, ... |
ORPHA:2658 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Deep philtrum, Thin lower lip ver... |
OMIM:619194 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema |
ORPHA:50810 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Ptosis |
ORPHA:589 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia |
OMIM:616271 |
Distal Deletion 15Q |
|
Upslanted palpebral fissure, Pulmonary hypoplasia, Blepharophimosis |
ORPHA:1596 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Alobar holoprosencephaly, Microcephaly, Submucous cleft hard palate,... |
OMIM:157170 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Fraser Syndrome 1 |
|
Absent eyebrow, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, Malformed lacrima... |
OMIM:219000 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Prune Belly Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:2970 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Dandy-Walker malformation, Ventriculomegaly, Cleft upper lip, Cryptorchidism, Esophageal atresia,... |
ORPHA:93271 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Narrow palpebral fissure, Epicanthus, Respiratory failure |
ORPHA:254528 |
Restrictive Dermopathy |
|
Telecanthus, Entropion, Sparse eyebrow, Sparse or absent eyelashes, Pulmonary hypoplasia, Downsla... |
ORPHA:1662 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Pyloric stenosis, Thin vermilion border, Elevated... |
OMIM:618419 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... |
OMIM:236100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Limbal dermoid |
ORPHA:1834 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Abnormal dental morphology, Decreased response to growth hormon... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Decreased response to growth hormon... |
ORPHA:363958 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
Costello Syndrome |
|
Epicanthus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia, Downsla... |
OMIM:218040 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia, Shallow orbits |
ORPHA:798 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, M... |
OMIM:235730 |
Igg4-Related Kidney Disease |
|
Abnormal lung morphology, Abnormality of the anterior pituitary, Interstitial pneumonitis, Sialad... |
ORPHA:449395 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... |
ORPHA:646 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2549 |
Fraser Syndrome |
|
Death in infancy, Abnormal lung lobation, Lacrimal duct aplasia, Malformed lacrimal duct, Pulmona... |
ORPHA:2052 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Adnp Syndrome |
|
Respiratory distress, Bilateral ptosis, Recurrent upper respiratory tract infections, Slanting of... |
ORPHA:404448 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:263520 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Tetrasomy 9P |
|
Epicanthus, Jaundice, Pulmonary hypoplasia, Pulmonary arterial hypertension, Downslanted palpebra... |
ORPHA:3310 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Ptosis |
ORPHA:17 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Cryptorchidism, Downturned corners of mouth, Agenesis of corpus ca... |
ORPHA:264200 |
Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Hypop... |
OMIM:227646 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Wolf-Hirschhorn Syndrome |
|
Absent septum pellucidum, Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Malrotati... |
OMIM:194190 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Thin upper lip vermilion, Septo-optic dysplasia, Cerebellar vermis h... |
OMIM:619841 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Epicanthus |
OMIM:618733 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the c... |
ORPHA:508498 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Ectopic thyroid, Agenesis of corpus ... |
ORPHA:42775 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Downslanted palpebral fissures, Ptosis |
ORPHA:1555 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... |
ORPHA:2396 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Esophageal a... |
OMIM:206900 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2167 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Dacryocystitis, Nasolacrimal duct obstruction, Upslanted palpebral fissure,... |
ORPHA:1051 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Hydrocepha... |
ORPHA:3472 |
Prader-Willi Syndrome Due To Translocation |
|
Almond-shaped palpebral fissure, Recurrent respiratory infections, Upslanted palpebral fissure, R... |
ORPHA:177907 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Pneumonia... |
ORPHA:95455 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria, Cleft palate, Perineal fistula, Anteriorly... |
OMIM:218600 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Partial agenesis of the corpus callosum, Short philtrum, High palate, Microdontia,... |
OMIM:135900 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Melas |
|
Hypoparathyroidism, Intestinal pseudo-obstruction, Aplasia/Hypoplasia of the cerebral white matte... |
ORPHA:550 |
Leptospirosis |
|
Respiratory distress, Jaundice, Pulmonary hemorrhage, Cough, Pleural effusion, Conjunctival hyper... |
ORPHA:509 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo... |
ORPHA:37042 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress... |
OMIM:616268 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Natal tooth, Pneumonia, Cryptorchidi... |
OMIM:264090 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Monosomy 9P |
|
Abnormality of the dentition, Microcephaly, Cryptorchidism, Cleft palate, High palate, Narrow mou... |
ORPHA:261112 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Campomelic Dysplasia |
|
Respiratory distress, Epicanthus, Neonatal respiratory distress, Apnea, Tracheomalacia, Tracheobr... |
OMIM:114290 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Chiari typ... |
ORPHA:261537 |
Auriculocondylar Syndrome |
|
Respiratory distress, Ptosis |
ORPHA:137888 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Intestinal malrotation, Microcephaly |
OMIM:605376 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus, Partial agenesis of the co... |
OMIM:619480 |
Holoprosencephaly |
|
Epicanthus, Highly arched eyebrow, Synophrys, Respiratory insufficiency, Aplasia/Hypoplasia of th... |
ORPHA:2162 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Spina bifida, Microcephaly, Respiratory tract infectio... |
OMIM:180849 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Abnorm... |
OMIM:607872 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Hiatus ... |
OMIM:305600 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... |
ORPHA:228123 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Microcephaly, Anencephaly, High palate, Short philtrum, Agenesis o... |
ORPHA:96176 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum |
ORPHA:420794 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Rhiniti... |
OMIM:305100 |
Biotinidase Deficiency |
|
Respiratory distress, Conjunctivitis, Apnea, Hyperventilation |
ORPHA:79241 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia |
OMIM:618280 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Agenesis of corpus callosum, Adenocarcinoma of the small intestine... |
OMIM:276300 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Bruising susceptibility, Pulmonary hypoplasia |
ORPHA:666 |
Monosomy 22Q13.3 |
|
Cerebellar cortical atrophy, Agenesis of corpus callosum, Dental crowding, Dental malocclusion |
ORPHA:48652 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Microcephaly, Cryptorchidism, Malrotation of small bowe... |
OMIM:606170 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Cleft palate |
ORPHA:306542 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Ptosis |
OMIM:615273 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Anterior pi... |
ORPHA:95494 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Aganglionic megacolon, Abnormal dental enamel morphology, Absen... |
ORPHA:2273 |
Simpson-Golabi-Behmel Syndrome |
|
Supernumerary nipple, Cleft upper lip, Cryptorchidism, High, narrow palate, Cleft palate, Wide mo... |
ORPHA:373 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
Degcags Syndrome |
|
Ventriculomegaly, Jejunal atresia, Pneumonia, Protruding tongue, Hiatus hernia, Pyloric stenosis,... |
OMIM:619488 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Thin eyebrow, Aspiration, Flushing |
ORPHA:2131 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal malrotation, Supernume... |
OMIM:312870 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Unilateral lung agenesis, Sparse eyebrow, Respiratory failure, Emphysema, Downslanted... |
ORPHA:500150 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnorm... |
ORPHA:2556 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Chiari typ... |
ORPHA:261552 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Fraser Syndrome 2 |
|
Respiratory failure, Cryptophthalmos |
OMIM:617666 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Widely spa... |
ORPHA:2152 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Bilobate gallbladder, Clef... |
OMIM:261540 |
Meacham Syndrome |
|
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... |
ORPHA:3097 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Respiratory failure, Ptosis |
ORPHA:14 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Epicanthus, Highly arched eyebrow, Abnormal lung lobation, Upslanted palpeb... |
ORPHA:508488 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Upslanted palpebral fissure, Death in infancy, Respiratory failure |
OMIM:300868 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Abnormal corpus striatum morphology, Decreased response to... |
ORPHA:3455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:220111 |
Pitt-Hopkins Syndrome |
|
Upslanted palpebral fissure, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Myhre Syndrome |
|
Respiratory insufficiency, Narrow palpebral fissure, Respiratory failure, Blepharophimosis, Thick... |
OMIM:139210 |
Isolated Arrhinia |
|
Respiratory distress, Eyelid coloboma |
ORPHA:1134 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, Branchial anom... |
OMIM:164210 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... |
ORPHA:48435 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... |
ORPHA:289548 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula, Agenesis of corpus callosum |
OMIM:618748 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Erythema, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmona... |
ORPHA:2092 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Nocturnal lagophthalmos, Loss of e... |
ORPHA:740 |
1P36 Deletion Syndrome |
|
Microcephaly, Pyloric stenosis, Cryptorchidism, Long philtrum, Abnormal intestine morphology, Nar... |
ORPHA:1606 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Absent nipple, Cerebellar vermis hypoplasia, Premature loss of primary ... |
OMIM:216340 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:887 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Pulmonary arterial hyperten... |
ORPHA:79282 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Telecanthus, Downslanted palpebral fissures, Shallow orbits |
OMIM:166250 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hyperventilation, Upslanted palpebral ... |
OMIM:601803 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Downslanted palpebral fissures |
ORPHA:2636 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Epicanthus, Synophrys, Asthma, Nasal flaring, Long palpebral fissure |
ORPHA:466943 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Plague |
|
Acute infectious pneumonia, Conjunctival hyperemia, Respiratory distress |
ORPHA:707 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Doors Syndrome |
|
Respiratory distress, Bilateral ptosis, Epicanthus, Aspiration pneumonia |
ORPHA:79500 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Telecanthus, Upslanted palpebral fissure, Recurrent upper and lower respira... |
ORPHA:480880 |
Microphthalmia, Syndromic 1 |
|
Optic disc coloboma, Pulmonary hypoplasia, Chorioretinal coloboma, Ciliary body coloboma, Iris co... |
OMIM:309800 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Cryptorchidism, Anteriorly placed anus, Wide mouth, Chiari malformation, R... |
ORPHA:857 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Epicanthus, Downslanted palpebral fissures |
OMIM:617088 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Downslanted palpebral fissures, Respiratory insufficiency |
OMIM:304120 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis |
ORPHA:2255 |
Zttk Syndrome |
|
Unilateral lung agenesis, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, ... |
OMIM:617140 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Eyelid coloboma, Prolonged neonatal jaundice, Acrocyanosis, Ptosis |
ORPHA:51 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Classical Ehlers-Danlos Syndrome |
|
Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Blepharochalasis, E... |
ORPHA:287 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Telecanthus, Recurrent pneumonia, Downslanted palpebral fissures |
ORPHA:99646 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Apnea, Keratoconjunctivitis sicca, Acrocyanosis, Ptosis |
ORPHA:285 |
Coffin-Lowry Syndrome |
|
Telecanthus, Cutis marmorata, Highly arched eyebrow, Acrocyanosis, Downslanted palpebral fissures... |
OMIM:303600 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Pmm2-Cdg |
|
Respiratory distress, Epicanthus, Abnormal subcutaneous fat tissue distribution, Upslanted palpeb... |
ORPHA:79318 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Alström Syndrome |
|
Respiratory distress, Dorsocervical fat pad, Recurrent upper respiratory tract infections, Recurr... |
ORPHA:64 |