Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... |
ORPHA:70589 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... |
ORPHA:2302 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Ventr... |
OMIM:610978 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Bronchogenic Cyst |
|
Back pain, Abnormal pericardium morphology, Abnormal lumbar spine morphology, Abnormal pleura mor... |
ORPHA:2357 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... |
ORPHA:60032 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... |
ORPHA:79126 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Limb fasciculations, Distal sensory impairment, Cough, Respiratory failure ... |
ORPHA:90117 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Respiratory insufficiency, Death in childhood, Ventricular septal defect, T... |
OMIM:253300 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea |
ORPHA:64741 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Immunodeficiency 95 |
|
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... |
OMIM:619773 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... |
OMIM:615067 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
OMIM:616428 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... |
OMIM:615294 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Aspiration pneumonia, Wheezing,... |
ORPHA:70588 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... |
OMIM:267450 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... |
OMIM:253240 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Hemiparesis, Chorea, Central ... |
ORPHA:71277 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Respiratory insufficienc... |
OMIM:256050 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Spasticity, Dysphagia, Abnormal pattern ... |
ORPHA:77260 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... |
OMIM:616726 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonus, Scoliosis, Limb myoclonus, Frequent falls, Tremor, Recurrent aspiration pn... |
ORPHA:2590 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertens... |
OMIM:619003 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Death in infancy, Pneumonia |
OMIM:254120 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... |
ORPHA:922 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... |
ORPHA:724 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... |
ORPHA:50251 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Tremor, Kyphoscoliosis, Ataxia |
OMIM:619099 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... |
ORPHA:3348 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Intrauterine growth retardation, Secundum atrial septal defect, Hypoxemia, Cyanosi... |
ORPHA:2257 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly, Myoclonus, Respiratory insufficiency, Death in infancy, Dystonia, Rec... |
ORPHA:139406 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Paralysis, Abnormality of the liver, Respiratory failure requiring assisted ... |
ORPHA:132 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Frequent falls, Atelectasis, Dysphagia, Exertional dyspnea, Pulmonary fibrosis |
ORPHA:254361 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crack... |
ORPHA:99931 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... |
ORPHA:1302 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Hypertonia, Myoclonus, Cyanotic episode, Death in infancy |
OMIM:610992 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract, Tremor |
OMIM:165300 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Hypertonia, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... |
ORPHA:723 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis |
OMIM:300455 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Aspiration pneumonia, Myoclonus, Rigidity, Neonatal respiratory ... |
OMIM:619057 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Scoliosis, Diaphragmatic paralysis, Restrictive ... |
OMIM:614399 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Distal sensory impairment, Respiratory insufficiency due to muscle weakness |
OMIM:617087 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Kyphosis, Ataxia, Clumsiness, Ankle clonus, Respiratory insufficiency, Knee... |
OMIM:211530 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... |
ORPHA:178320 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... |
ORPHA:240103 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Respiratory insufficiency, Scoliosis, Vocal cord paralysis |
ORPHA:640 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Dysphagia, Pulmonary hypoplasia, Patent foramen ovale, Neonatal respiratory distress, Respiratory... |
OMIM:616867 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth, Truncus arteriosus |
OMIM:274210 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Hepatomegaly, Respiratory insufficiency, Myoclonus, Dilated cardiomyopathy, Death in infa... |
OMIM:614299 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Tremor, Ataxia, Respiratory failure |
OMIM:618637 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly... |
ORPHA:2414 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Hepatitis |
OMIM:219400 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Hepatomegaly, Jaundice, Splenomegaly, Death in childhood, Re... |
OMIM:607625 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Sclerocornea, Microphthalmia |
OMIM:611038 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Short neck, Scoliosis, Neonatal death, Respiratory failure, Dystonia, Respiratory insuf... |
OMIM:611890 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Pulmonary hypoplasia, Intrauterine growth ret... |
OMIM:616733 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Acu... |
ORPHA:36238 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Dysphagia, Venti... |
ORPHA:254875 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Choreoathetosis, Anophthalmia, Microphthalmia |
OMIM:221950 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... |
OMIM:619611 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect, Spasticity, Death in infancy, Hypertrophic cardiomyopathy, Resp... |
OMIM:616277 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... |
ORPHA:199241 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... |
OMIM:619751 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Death in infancy, Spasticity, Dysphagia, Respiratory failure |
OMIM:225753 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Decreased liver function, Ataxia, Central sleep apnea, Hepatic steatos... |
ORPHA:70472 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Hepatomegaly, Cirrhosis, Myoclonus, Abnormal pyramid... |
ORPHA:363400 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... |
ORPHA:266 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial mor... |
OMIM:612387 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Short neck, Dyspnea, Respiratory failure |
ORPHA:1832 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Pulmonary hypoplasia, Neonatal death |
OMIM:224410 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatomegaly, Tetraplegia, Microvesicular hepatic steatosis, Recurrent r... |
OMIM:618278 |
Thanatophoric Dysplasia |
|
Kyphosis, Intrauterine growth retardation, Atrial septal defect, Respiratory insufficiency, Platy... |
ORPHA:2655 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Respiratory failure, Neonatal death |
OMIM:301021 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:608647 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Upper limb spasticity, Lower limb spasticity |
OMIM:611225 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... |
ORPHA:454836 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Absent vertebral body mineralization, Pulmonary hypoplasia, Cardiorespiratory ... |
ORPHA:93296 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Respiratory failure |
OMIM:610127 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal ... |
ORPHA:60025 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Hypertonia, Tremor, Death in infancy, Respiratory failure, Dystonia |
OMIM:617248 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Dyspnea |
OMIM:606183 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypertonia, Dystonia, Hepatic steatosis, Intrauterine growth retardation, C... |
ORPHA:26792 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Abnormal cardiac septum morphology, Ataxia, Chorea, Abnormal eating behavio... |
ORPHA:209905 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... |
ORPHA:91359 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Partial di... |
ORPHA:2847 |
Pontocerebellar Hypoplasia, Type 1C |
|
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of the vertebral ... |
ORPHA:1354 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Respiratory distress, Recurrent respiratory infections |
OMIM:615993 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Intrauterine growth retardation, Right atrial enlargement, Anomalous pu... |
ORPHA:555874 |
Sandhoff Disease |
|
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections |
ORPHA:796 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection, Crani... |
OMIM:620011 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium |
OMIM:615524 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxe... |
ORPHA:70578 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Hereditary Methemoglobinemia |
|
Hypertonia, Cyanosis, Athetosis, Spasticity, Limb dystonia, Spastic tetraplegia, Exertional dyspnea |
ORPHA:621 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Pulmonary artery atresia, Ventricular septal d... |
ORPHA:1209 |
Minicore Myopathy With External Ophthalmoplegia |
|
Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respiratory infections, Scoliosis |
OMIM:255320 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Rigidity, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Respiratory insufficiency, Platyspondyly, Thoracolumbar scoliosis, Respiratory failure |
OMIM:313420 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Hepatomegaly, Opisthotonus, Hepatic failure, Splenomegaly... |
OMIM:608013 |
Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis,... |
ORPHA:449280 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Hyperekplexia 4 |
|
Hypertonia, Kyphoscoliosis, Respiratory failure, Myoclonus |
OMIM:618011 |
Neuralgic Amyotrophy |
|
Paresthesia, Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Motor stereotypy, Death in infancy |
OMIM:616341 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Diffuse reticular or finely nodular infiltrations, Splenomegaly, Abnormal pulmonary... |
OMIM:607616 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea,... |
OMIM:178500 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Biconvex vertebral bodies, Platyspondyly, Scoliosis, Pulmonary hypoplasia, ... |
OMIM:184260 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... |
ORPHA:133 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Chronic rhinitis, Situs inversus totalis, Atelectasis, Recurrent bronchitis, Cil... |
OMIM:244400 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... |
ORPHA:98810 |
Cystic Echinococcosis |
|
Asthma, Urticaria, Cholestatic liver disease, Hepatomegaly, Jaundice, Multiple pulmonary cysts, A... |
ORPHA:400 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Respiratory distress, Unossified sacrum, Tracheomalacia, Abnormal ... |
OMIM:608022 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminerg... |
ORPHA:240085 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Nemaline Myopathy 8 |
|
Dysphagia, Respiratory failure, Death in infancy |
OMIM:615348 |
Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Slurred speech, ... |
ORPHA:98755 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hy... |
ORPHA:365 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Tonne-Kalscheuer Syndrome |
|
Tremor, Pulmonary hypoplasia, Spasticity, Dysphagia, Abnormal heart morphology |
OMIM:300978 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar pho... |
ORPHA:217563 |
Aspergillosis |
|
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... |
ORPHA:1163 |
Farber Disease |
|
Respiratory distress, Paraparesis, Nodular pattern on pulmonary HRCT, Diffuse reticular or finely... |
ORPHA:333 |
Congenital Myasthenic Syndrome |
|
Kyphoscoliosis, Episodic respiratory distress, Ataxia, Spinal rigidity, Respiratory arrest, Centr... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Kyphoscoliosis, Episodic respiratory distress, Ataxia, Spinal rigidity, Respiratory arrest, Centr... |
ORPHA:98914 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Tracheomalacia, Spastic paraplegia, Atelectasis, Acrocyanosis |
ORPHA:896 |
Pulmonary Hemosiderosis |
|
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... |
OMIM:178550 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... |
ORPHA:747 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Involuntary movements, Tongue fasciculations |
ORPHA:238329 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Nonproductive cough, C... |
ORPHA:980 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Scimitar Syndrome |
|
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Frequent falls, Respiratory failure |
ORPHA:75840 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Scoliosis, Tetralogy of Fallot, Pulmonary ar... |
OMIM:618316 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Scoliosis, Distal sens... |
OMIM:616505 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Poor gross motor coordination, Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropat... |
ORPHA:370968 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dysphagia, Dyspnea, ... |
ORPHA:142 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Microp... |
ORPHA:231736 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... |
ORPHA:90060 |
Nipah Virus Disease |
|
Respiratory distress, Myoclonus, Cough, Tremor, Recurrent pharyngitis |
ORPHA:99825 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy, Dilated cardiomyopathy, Dysphagia, Dys... |
ORPHA:352447 |
Porphyria, Acute Hepatic |
|
Paresthesia, Paralysis, Respiratory paralysis |
OMIM:612740 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Frequent falls, Dilated cardiomy... |
OMIM:300718 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Ove... |
OMIM:617022 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... |
ORPHA:445038 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respiratory failure, Intrauterine growth r... |
OMIM:609981 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Beaking of vertebral bodies, Kyphoscoliosis, Respiratory distress, Atlantoaxial disl... |
ORPHA:536467 |
Alg3-Cdg |
|
Hypertonia, Decreased liver function, Pulmonary hypoplasia, Spastic tetraparesis, Dystonia, Cardi... |
ORPHA:79321 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Hypertonia, Episodic respiratory distress, Chronic p... |
ORPHA:1199 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Epis... |
OMIM:301790 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia, Death in infancy, Abnormal heart morphology |
OMIM:241800 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Respiratory failure, Jaundice, Elevated hepatic transaminase |
ORPHA:890 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Kyphosis, Cholelithiasis, Jaundice, Splenomegaly, Respiratory insufficiency... |
OMIM:615512 |
Atypical Rett Syndrome |
|
Kyphosis, Episodic tachypnea, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wr... |
ORPHA:3095 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Kyphoscoliosis, Blepharospasm, Laryngeal dystonia, Dysdiadocho... |
ORPHA:98805 |
Leigh Syndrome |
|
Hepatocellular necrosis, Ataxia, Respiratory insufficiency, Spasticity, Abnormal pattern of respi... |
OMIM:256000 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Neonatal death, Widening of cervical spinal canal |
OMIM:253310 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:254210 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Pulmonary hypoplasia, Short neck, Stillbirth, Neonatal death |
OMIM:236500 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Retinal detachment, Iris coloboma, Cataract, Macular atrophy |
OMIM:212550 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:617468 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Ataxia, Dysmetria, Intention tremor, Head titubation, Dysphagia, Pulmonary hypoplasia, ... |
OMIM:619708 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity |
OMIM:604801 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive vent... |
ORPHA:98913 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necr... |
OMIM:231680 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Myocardial fibrosis, Abnormality of the hepatic vasculature, Hepatosplenomegaly, Crackles, Abnorm... |
ORPHA:210136 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea |
ORPHA:139471 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis, Recurrent lower respiratory tract infections... |
ORPHA:258 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Vocal cord paralysis, Congenital laryngeal stridor |
ORPHA:2375 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... |
ORPHA:2759 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... |
OMIM:601612 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Ataxia, Dysmetria, Central hypoventilation, Dysphagia, Respiratory failure |
OMIM:618233 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Situs inversus totalis, Dextrocardia, Ciliary d... |
OMIM:606763 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Tremor, Impaired pain sensation |
ORPHA:101075 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract, Microphthalmia |
OMIM:278780 |
Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Short neck, Neonatal death, Severe platyspondyly, Pulmonary hypoplasia, Neonatal r... |
OMIM:187600 |
Pleoconial Myopathy With Salt Craving |
|
Salt craving, Paralysis |
OMIM:262900 |
Tracheal Agenesis |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Fetal Akinesia Deformation Sequence |
|
Intrauterine growth retardation, Respiratory insufficiency, Pulmonary hypoplasia, Scoliosis |
ORPHA:994 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Scoliosis, Paralysis |
OMIM:605285 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Ankle clonus, Babinski sign, Tetraparesis, Spasticity, Dysphagia, Fasciculations, Lower limb spas... |
OMIM:613954 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Hemivertebrae, Pulmonary hypoplasia |
OMIM:207620 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Hand tremor, Impaired vibratory sensation, Babinski sign, Scoliosis... |
ORPHA:99947 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Generalized abnormality of skin, Scoliosis, Cough, Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Intrauterine growth retardation, Respiratory insufficiency, Death in childhood, Elevated circulat... |
OMIM:245400 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor, Vocal cord paralysis |
OMIM:150260 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Short neck, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart mor... |
OMIM:263210 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent infections due to aspiration, Scoliosis, Tongue fasciculations, R... |
ORPHA:70 |
Nephronophthisis-Like Nephropathy 2 |
|
Pulmonary infiltrates, Polydipsia, Cough, Bronchiectasis, Recurrent respiratory infections |
OMIM:619468 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, E... |
OMIM:619386 |
Hydrocephalus With Associated Malformations |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:236640 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb dysm... |
OMIM:614409 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure |
OMIM:602088 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the lungs, Scoliosis, Recurrent respiratory infections |
ORPHA:1548 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... |
OMIM:228940 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Opisthotonus, Spasticity, Respiratory failure, Death in infancy, Intrauterine growt... |
OMIM:610678 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Legionnaires Disease |
|
Pulmonary infiltrates, Ataxia, Pancreatitis, Splenomegaly, Respiratory insufficiency, Endocarditi... |
ORPHA:549 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Respiratory insufficiency, Short neck, Neonatal ... |
OMIM:269860 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Re... |
ORPHA:308552 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Fasciculations, Respiratory failure, Tongue fasciculations |
OMIM:613435 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular ... |
OMIM:608149 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Hypertonia, Kyphoscoliosis, Clumsiness, Poor coordination, Scoliosis, Chore... |
ORPHA:37612 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Progressive cerebellar ataxia, Impaired vibratory sensation, Babinski sign,... |
ORPHA:2596 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hyp... |
OMIM:616897 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment |
ORPHA:190 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Neonatal death, Spastic tetraplegia, Hypertrophic cardiomyopathy, Intrauterine growth r... |
OMIM:618237 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Scoliosis, Distal sensory impairment, Respiratory failure, Vocal cord paresis, Intercostal muscle... |
OMIM:606071 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Recurrent respiratory infections |
ORPHA:85288 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Ataxia, Lumbar hyperlordosis, Scoliosis, Lower limb spasticity, Dystonia |
OMIM:616756 |
Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Respiratory insufficiency, Platyspondyly, Scoli... |
OMIM:156530 |
Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Hepatomegaly, Hepatic failure, Chorea, Tremor, Limb dystonia, Abnormal lung mo... |
ORPHA:646 |
Alg1-Cdg |
|
Kyphosis, Decreased liver function, Scoliosis, Respiratory failure, Cardiomyopathy, Abnormal hear... |
ORPHA:79327 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Multiple pulmona... |
ORPHA:79128 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microcornea, Cataract, Microphthalmia |
OMIM:610125 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Abnormal cervical curvature, Pulmonary hypoplasia, Vertebral fusion, Intrauter... |
OMIM:312150 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Situs inversus totalis, Pulm... |
OMIM:202650 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Miscarriage, Pulmonary hypoplasia, Respiratory infections in early life, Neonatal respiratory dis... |
ORPHA:96179 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Scoliosis, Tremor, Impaired pain sensation |
ORPHA:101078 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Ataxia, Hypertonia, Chorea, Spastic tetraparesis, Dystonia |
ORPHA:79097 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis, Limb myoclonus, Hypertonia |
ORPHA:306 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Impaired vibratory sensation, Limb dystonia, Clonus, Impaired proprioception, Upper lim... |
ORPHA:319199 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Distal sensory impairment |
OMIM:613710 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:604377 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Scoliosis, Elevated hepatic transaminase, Death in infancy, Neonatal respir... |
OMIM:615042 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Trisomy 13 |
|
Anophthalmia, Optic atrophy, Iris coloboma, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:3378 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Spasticity, Neonatal respiratory distress, Respiratory failure |
ORPHA:168486 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... |
ORPHA:254864 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Pulmonary hypoplasia, Abnormal form of the vertebral bodies |
ORPHA:1486 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hemiplegia/hemiparesis, Pancreatitis, Hepatomegaly, Chorea, Choreoathetosis... |
ORPHA:289916 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
Walker-Warburg Syndrome |
|
Corneal opacity, Retinal detachment, Anophthalmia, Microcornea, Optic atrophy, Iris coloboma, Cat... |
ORPHA:899 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Respiratory failure, Dystonia |
ORPHA:330021 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Short neck, Pulmonary hypoplasia, Pulmonary arterial hypertension... |
ORPHA:3309 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Scoliosis, Tremor, Spa... |
OMIM:617435 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Dysphagia, Pulmonary hypoplasia, Patent foramen ovale, Neonatal re... |
OMIM:616866 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypertonia, Opisthotonus, Death in childhood, Babinski sign, Cerebral palsy, Myoclonus, Clonus, S... |
OMIM:619847 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Abnormal cervical curvature, Pulmonary hypoplasia, Vertebral fusion, Intrauter... |
OMIM:253290 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... |
ORPHA:3392 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Poor fine motor coordination, Scoliosis, Distal sensory impairment... |
ORPHA:99948 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Erythema, Angioedema, Res... |
ORPHA:449285 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Pulmonary infiltrates, Hemiplegia/hemiparesis, Urticaria, Abnormal pericardium... |
ORPHA:183 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dysphagia, Paralysis, Dystonia, Athetosis |
OMIM:300857 |
Severe Congenital Nemaline Myopathy |
|
Dysphagia, Pulmonary hypoplasia, Respiratory failure |
ORPHA:171430 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Shallow anterior chambe... |
ORPHA:91495 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity |
OMIM:610743 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Primum atrial septal defect, Right ventricular hyper... |
ORPHA:1329 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatic steatosis |
OMIM:615595 |
Meckel Syndrome 14 |
|
Single ventricle, Cyanosis, Short neck, Cardiorespiratory arrest, Pulmonary hypoplasia, Hepatic f... |
OMIM:619879 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Respiratory failure, Somatic sensory dysfunction |
ORPHA:71211 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Scolio... |
ORPHA:86812 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Apnea, Ataxia, Opisthotonus, Cyanosis, Paraplegia, Somatic sensory dysfunction, Spas... |
ORPHA:1136 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Pulmonary hypopla... |
OMIM:263200 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Abnormality of the vertebral column, Respiratory failure, Abnormal ver... |
OMIM:276950 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstiti... |
OMIM:614742 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Atelectasis, Restrictive ventilatory... |
ORPHA:538 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Scoliosis, Fasciculations, Respiratory insufficiency due to muscle weakness... |
ORPHA:1143 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... |
ORPHA:99050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Dystonia, Cardio... |
ORPHA:79312 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Whim Syndrome |
|
Sinusitis, Poor fine motor coordination, Limb ataxia, Recurrent upper respiratory tract infection... |
ORPHA:51636 |
Gaucher Disease, Type I |
|
Pulmonary infiltrates, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary inte... |
OMIM:230800 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory insufficiency, Respiratory failure, Spastic tetraplegia |
OMIM:615330 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Respiratory insufficiency, Short neck, Anisospondyly, Pulmonary hypoplasia, Abnormal... |
ORPHA:1865 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus, Hypertonia |
OMIM:250800 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Babinski sign, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Fasciculations... |
OMIM:615290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Decreased liver function, Ataxia, Hepatomegaly, Death in childhood, Truncal... |
OMIM:220110 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Cyanosis, Cough, Hypox... |
ORPHA:2038 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility |
OMIM:277180 |
Eosinophilia, Familial |
|
Pulmonary infiltrates, Recurrent bronchitis, Myocardial eosinophilic infiltration |
OMIM:131400 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Sensory ataxia, Babinski sign, Hypercapnia, Abnormal pyramidal sign, Facial paralysis, Re... |
ORPHA:79138 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Resting tremor, Nonproductive cough, Crackles, Fulminant hepatitis, Myocard... |
ORPHA:319213 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis, Dysphagia, Dyspnea, Respiratory insufficiency... |
ORPHA:230800 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:267430 |
Marden-Walker Syndrome |
|
Kyphosis, Short neck, Scoliosis, Dextrocardia, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:248700 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Ataxia, Hypertonia, Decreased liver function, Pulmonic stenosis, Cen... |
ORPHA:70474 |
Variegate Porphyria |
|
Cutaneous photosensitivity, Paralysis |
OMIM:176200 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Intrauterine growth retardation, Ataxia, Hepatomegaly, Concentric hypertrophic cardiomyopathy, De... |
OMIM:610505 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Dysphagia, Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Scoliosis, Respiratory failure requiring assisted ventilatio... |
ORPHA:496641 |
Hsd10 Disease, Infantile Type |
|
Poor coordination, Spastic diplegia, Cyanosis, Hyperkinetic movements, Choreoathetosis, Spastic t... |
ORPHA:391428 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Scoliosis, Abnormality of... |
ORPHA:48431 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Ataxia, Respiratory insufficiency, Scoliosis, Choreoathetosis, Spasticity, Dystonia, Re... |
ORPHA:702 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Intrauterine growth retardation, Hepatomegaly, Abnormal aort... |
ORPHA:1194 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia |
ORPHA:238459 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Aspiration,... |
OMIM:272750 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Scoliosis |
OMIM:300934 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Sialidosis Type 2 |
|
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly, Tremor, Dyspnea |
ORPHA:87876 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Hepatomegaly, Splenomegaly, Tremor, Elevated hepatic transaminase, ... |
OMIM:608799 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea |
OMIM:269400 |
Truncus Arteriosus |
|
Pulmonary edema, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Cyanosis... |
ORPHA:3384 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Scoliosis, Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal ... |
OMIM:619574 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis, Stereotypical hand wringing, Abnormal respiratory system physiology, Impaire... |
ORPHA:505652 |
Combined Oxidative Phosphorylation Defect Type 23 |
|