Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
serine/threonine kinase 40
Synonyms:
2310004N11Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Stk40 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stk40 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Weight loss, Dyspnea ORPHA:64741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cyanosis, ... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... ORPHA:70587
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss, Aspiration pneumonia ORPHA:141152
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Ground-glass opacification ORPHA:60026
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... ORPHA:60032
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Weight... ORPHA:2902
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration pneumonia, Pneumot... ORPHA:70588
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Weight loss, Dyspnea, Abnorma... ORPHA:50251
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Dyspnea, Recurrent ... ORPHA:60033
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Bronchiolitis oblite... ORPHA:1303
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... ORPHA:3348
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Tachypnea, Acute infect... ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Weight loss, Dyspnea, Bronchiectasis, Pulmo... ORPHA:411703
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Death in childhood, Death in infancy, Neonatal death, Pulmonary hypoplasia OMIM:614096
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Obesity OMIM:615993
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Ground-glass opacification, Cya... ORPHA:91359
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal pattern of respiration, Pulmonary infiltrates ORPHA:724
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Failure to thrive, Apnea, Cyanosis, Tachypnea, Pneumothorax... ORPHA:2257
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia ORPHA:140896
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Weight loss, Dyspnea, Hy... ORPHA:747
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, D... ORPHA:178320
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnormal pu... OMIM:612387
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrat... ORPHA:36238
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Ground-glass opacific... OMIM:620233
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia OMIM:616733
Alpha-1-Antitrypsin Deficiency
Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Ground-glass opacification, Lymphocytic interstitial p... ORPHA:133
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangio... OMIM:234810
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Ground-glass opacificati... OMIM:614370
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Allergic Bronchopulmonary Aspergillosis
Emphysema, Weight loss, Bronchiectasis ORPHA:1164
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Failure to thrive ORPHA:91130
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Laryngotracheoesophageal Cleft
Dyspnea, Recurrent respiratory infections, Cyanosis ORPHA:2004
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation, Failure to thrive OMIM:300770
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Pneumocystosis
Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural effusion, Interstitial pneumo... ORPHA:723
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death OMIM:601612
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates OMIM:178550
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Weight loss, Neoplasm of the lung ORPHA:142
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Avian Influenza
Pneumonia, Respiratory distress, Ground-glass opacification, Pleural effusion, Pulmonary infiltra... ORPHA:454836
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu... OMIM:265450
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Farber Disease
Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Respiratory distres... ORPHA:333
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia ORPHA:254875
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis, Tachypnea, Patent ductus arteriosus, Maternal diabetes, Hypoxemia, S... ORPHA:860
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Failure to thrive, Anomalous ori... ORPHA:99050
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... ORPHA:3392
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Tetrasomy 5P
Failure to thrive, Respiratory distress, Cyanosis, Recurrent respiratory infections, Pulmonary hy... ORPHA:3309
Congenital Heart Block
Cyanosis, Pleural effusion, Patent ductus arteriosus ORPHA:60041
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Failure to thrive, Respiratory distress, Apnea, Death in childhood, Death in infancy, C... OMIM:618426
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary infiltrates, Weight loss, Irregular septal thickening on pu... ORPHA:90060
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Failure to thrive, Ground-glass opaci... ORPHA:79128
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass... ORPHA:99931
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea, Small for gestational age ORPHA:621
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Atelectasis, Death in childhood, Tachypnea, Recurrent respiratory infections, ... OMIM:618278
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Patent ductus arteriosus, Orthopnea, ... ORPHA:980
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Hypophosphatasia
Emphysema, Failure to thrive in infancy ORPHA:436
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Premature graying of hair, Dys... OMIM:614742
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive, Death in infancy OMIM:616974
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Lipoid pneumonia OMIM:620326
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Failure to thrive, Emphysema, Recurrent bronchopulmonary infections, Bronchi... OMIM:242700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Glycosuria, Lung adenocarcinoma OMIM:618913
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, ... ORPHA:70578
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis, Hypoventilation, Decreased body weight ORPHA:258
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Failure to thrive OMIM:614399
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Atelectasis, Ecchymosis ORPHA:319213
Double Outlet Right Ventricle
Cyanosis, Pulmonary artery atresia, Tachypnea, Failure to thrive ORPHA:3426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Type I diabetes mellitus, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Short-Rib Thoracic Dysplasia 12
Neonatal death, Patent ductus arteriosus, Atelectasis, Pulmonary hypoplasia OMIM:269860
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Respiratory distress, Episodic tachypnea, Obesity, Hypoketotic hypoglycemia, Tachypnea... ORPHA:26793
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dys... ORPHA:365
Double Outlet Left Ventricle
Failure to thrive, Cyanosis, Pulmonary artery stenosis, Tachypnea, Patent ductus arteriosus ORPHA:3427
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Pericardial And Diaphragmatic Defect
Hypoxemia, Pulmonary sequestration, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2847
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Decreased body weight, Purpura, Pulmonary... OMIM:608013
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy... ORPHA:536467
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Succinic Acidemia
Respiratory distress OMIM:600335
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Pulmonary fibrosis OMIM:612852
Hypoadrenocorticism, Familial
Apnea, Cyanosis, Hypoglycemia OMIM:240200
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Lymphatic Malformation 12
Neonatal death, Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory t... OMIM:620014
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Esophageal Atresia
Bronchitis, Respiratory distress, Failure to thrive in infancy, Cyanosis, Episodic respiratory di... ORPHA:1199
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Failure to thrive, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea,... ORPHA:99106
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato... OMIM:211530
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Relapsing Polychondritis
Erythema, Atelectasis, Abnormal pattern of respiration, Dyspnea, Purpura ORPHA:728
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Breath-Holding Spells
Cyanosis OMIM:607578
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive ORPHA:329178
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:98914
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive OMIM:613561
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia ORPHA:2470
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood OMIM:615597
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Hypoglycemi... OMIM:607143
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Decreased body weight, Pulmonary artery atresia, Small for gestational age, Pulmonar... OMIM:620371
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Abnormal pleura morphology, Pulmonary infiltrates, Purpura, Weight loss, Acrocya... ORPHA:183
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Apnea, Cyanosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Intercostal retractions, Failure to thrive, Cyanosis, Tachypnea ORPHA:1329
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:615415
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Malaria
Respiratory distress ORPHA:673
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Patent ductus arteriosus, Failure to thrive, Telangiectasia OMIM:608799
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Failure to thrive, Death in infancy OMIM:602473
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Neonatal hypoglycemia OMIM:261740
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Pleural effusion, Emphysema, Angioedema ORPHA:36412
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Common Variable Immunodeficiency
Pneumonia, Emphysema, Failure to thrive in infancy, Recurrent bronchitis, Recurrent respiratory i... ORPHA:1572
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory tract infection, Failure to thrive ORPHA:308552
Chand Syndrome
Atelectasis ORPHA:1401
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy OMIM:615042
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea ORPHA:31826
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax, Death in childhood, Death in infancy OMIM:620278
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Acrocyanosis, Failure to thrive, Impaired glucose tolerance OMIM:614407
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Dyspnea, Usual interstitial pneumonia, Pulmonary fibrosis, Premature graying of hair OMIM:620367
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Laryngomalacia
Respiratory distress OMIM:150280
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Urticaria ORPHA:634
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus, Death in infancy ORPHA:166272
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Diaphanospondylodysostosis
Respiratory distress, Pulmonary hypoplasia OMIM:608022
Tarp Syndrome
Cyanosis, Apnea, Failure to thrive, Pulmonary hypoplasia ORPHA:2886
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Failure to thrive OMIM:250940
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary h... OMIM:618316
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Death in childhood, Recurrent bronchopulmonary infecti... OMIM:617303
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:100800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Meacham Syndrome
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... OMIM:608978
Carnitine Deficiency, Systemic Primary
Respiratory distress, Impaired gluconeogenesis, Failure to thrive, Recurrent hypoglycemia OMIM:212140
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Toxic Epidermal Necrolysis
Erythema, Respiratory distress, Abnormal pleura morphology, Weight loss, Recurrent respiratory in... ORPHA:537
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Necrotizing Enterocolitis
Hyperglycemia, Apnea, Cyanosis, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Small for gestational age, Pulmonary hypoplasia OMIM:616897
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Failure to thrive, Respiratory distress, Abnormal pulmonary interstitial mor... ORPHA:209905
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Q Fever
Pneumonia, Respiratory distress, Pleural effusion, Weight loss, Abnormal pulmonary interstitial m... ORPHA:781
Sepsis In Premature Infants
Petechiae, Cyanosis, Decreased body weight, Dyspnea, Jaundice, Nasal flaring, Purpura, Small for ... ORPHA:90051
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea ORPHA:99103
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616866
Sarcoidosis, Susceptibility To, 1
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Weight loss, Dyspnea, Abnormal pul... OMIM:181000
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Cyanosis, Pulmonary edema, Tachypnea ORPHA:137675
Cystic Echinococcosis
Pulmonary cyst, Abnormal subpleural morphology, Multiple pulmonary cysts, Weight loss, Abnormal p... ORPHA:400
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Failure to thrive, Dyspnea, Abnormal pulmonary interstit... OMIM:615486
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia ORPHA:96179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Pulmonary Hypertension, Primary, 1
Telangiectasia, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary ... OMIM:178600
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Failure to thrive ORPHA:51188
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Weight loss, Dyspnea,... ORPHA:31204
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Patent ductus arteriosus ORPHA:3304
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mogs-Cdg
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation ORPHA:79330
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Recurrent lower respiratory tract infections, Exertional dyspnea, Hypoventi... ORPHA:98915
Cryptococcosis
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea ORPHA:1546
22Q11.2 Deletion Syndrome
Failure to thrive, Atelectasis, Abnormal lung lobation, Obesity, Purpura, Patent ductus arteriosus ORPHA:567
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic epi... ORPHA:348
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... OMIM:601186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia OMIM:615503
Bacterial Toxic-Shock Syndrome
Pneumonia, Respiratory distress, Respiratory tract infection, Ecchymosis, Tachypnea ORPHA:36234
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan... ORPHA:99125
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect... OMIM:219100
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea, Patent duct... ORPHA:2299
Poems Syndrome
Pleural effusion, Plethora, Weight loss, Acrocyanosis, Diabetes mellitus ORPHA:2905
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss ORPHA:79242
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Type I diabetes mellitus, Respiratory distress, Failure to thrive in infancy, Intersti... ORPHA:37042
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Failure to thrive, Atelectasis ORPHA:534
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Sudden episodic apnea ORPHA:159
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter... OMIM:610655
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Angioedema, Respiratory distress, Cutis marmorata, Pleural effusion, Pulmonary... ORPHA:3260
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Kagami-Ogata Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:608149
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Neonatal hypoglycemia OMIM:616271
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Failure to thrive, Respiratory distress, Cyanosis, Bilat... OMIM:306955
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mosaic Trisomy 16
Small for gestational age, Maternal diabetes, Abnormal lung morphology, Patent ductus arteriosus,... ORPHA:1708
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Distal Triplication 15Q
Large for gestational age, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:314588
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea, Failure to thrive OMIM:237310
Cocaine Intoxication
Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Pulmonary edema, Tachyp... ORPHA:90068
Mgat2-Cdg
Respiratory distress, Patent ductus arteriosus, Failure to thrive, Recurrent upper and lower resp... ORPHA:79329
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te... OMIM:187300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Failure to thrive, Respiratory distress, Death in childhood, Exertional dyspnea OMIM:220110
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Thoracoabdominal Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:313850
Caudal Regression Syndrome
Maternal diabetes, Pulmonary hypoplasia ORPHA:3027
Meier-Gorlin Syndrome 1
Failure to thrive, Respiratory distress, Emphysema, Death in infancy, Small for gestational age OMIM:224690
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Death in childhood OMIM:613848
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Eosinophilic Fasciitis
Weight loss, Acrocyanosis ORPHA:3165
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Pulmonary hypoplasia ORPHA:1865
Congenital Myopathy 17
Failure to thrive in infancy, Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Large for gestational age, Palmoplantar cutis lax... ORPHA:363705
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Respiratory distress, Apnea, Recurrent respiratory infections, P... ORPHA:17
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Dravet Syndrome
Cyanotic episode ORPHA:33069
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre... OMIM:614748
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus OMIM:620166
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Pulmonary hypoplasia ORPHA:1848
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Generalized abnormality of skin ORPHA:367
Triosephosphate Isomerase Deficiency
Failure to thrive, Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonat... OMIM:615512
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Oligomeganephronia
Small for gestational age, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Hypoglycemia OMIM:251000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Death in childhood, Prolonged neonatal jaundice, Patent ductus arteriosus, Pul... OMIM:214100
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Irregular respiration ORPHA:79139
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Decreased body weight, Pulmonary ed... ORPHA:340
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Failure to thrive ORPHA:2707
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Digeorge Syndrome
Recurrent pneumonia, Atelectasis, Obesity, Recurrent sinusitis, Patent ductus arteriosus OMIM:188400
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small for gestational age, Pulmonary hypoplasia OMIM:619148
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Palmoplantar cutis laxa, Central apnea, Neonatal death OMIM:616482
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive OMIM:619272
Arterial Tortuosity Syndrome
Respiratory distress, Pulmonary artery stenosis, Telangiectasia of the skin, Dyspnea, Prematurely... ORPHA:3342
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Central hypoventilation, Hyperglycemia, Obesity, Cy... ORPHA:293987
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections, Small for gestational age, Failure to thrive OMIM:616835
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Cyanosis ORPHA:488627
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Joubert Syndrome 21
Dyspnea, Apnea, Pulmonary hypoplasia OMIM:615636
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:208500
Dermatomyositis
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Diffuse reticular or finely nodu... ORPHA:221
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Pulmonary hypoplasia OMIM:200995
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Moebius Syndrome
Respiratory distress OMIM:157900
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:208540
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Obesity, Patent ductus arteriosus ORPHA:177907
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Apnea, Cyanosis, Death in infancy OMIM:252010
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Failure to thrive, Respiratory distress, Pneumothorax, Fragile skin, Dyspnea ORPHA:79404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:614080
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature skin wrinkling, Abnormality of the pulmonary artery, Premature graying of hair ORPHA:363618
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Respiratory distress, Death in infancy, Jaundice OMIM:617156
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Apnea, Cyanosis, Hypoglycemia OMIM:620423
Alfadhel Syndrome
Nasal flaring OMIM:620655
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Apnea, Death in infancy, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:601559
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616300
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Combin... OMIM:130050
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Bruising susceptibility OMIM:614816
Coccidioidomycosis
Pneumonia, Respiratory distress, Exudative pleural effusion, Parenchymal consolidation, Pulmonary... ORPHA:228123
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:505248
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Infantile Krabbe Disease
Respiratory distress, Cachexia, Failure to thrive ORPHA:206436
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Hypoglycemia OMIM:251110
Listeriosis
Respiratory distress, Jaundice, Pneumonia, Miscarriage ORPHA:533
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Pulmonary hypoplasia ORPHA:2990
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cutis marmorata, Weight loss, Vasculitis in the skin, Recurrent stre... ORPHA:48435
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:619351
Neonatal Marfan Syndrome
Emphysema, Hypoxemia, Small for gestational age ORPHA:284979
Raine Syndrome
Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight OMIM:615273
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Hypoglycemia, Emphysema, Slender build, Tachypnea, Abnormal pulmonary intersti... OMIM:613658
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... ORPHA:991
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Pulmonary hypoplasia OMIM:308050
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Myasthenia Gravis
Dyspnea, Acrocyanosis, Glycosuria ORPHA:589
Tuberous Sclerosis Complex
Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Generalized ab... ORPHA:805
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Respiratory distress, Pulmonary ... ORPHA:2255
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Patent ductus arteriosus, Decreased body weight ORPHA:1051
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus OMIM:612863
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Respiratory distress, Prolonged neonatal... OMIM:256810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Pulmonary hypoplasia ORPHA:83617
Fontaine Progeroid Syndrome
Failure to thrive, Premature skin wrinkling, Reduced subcutaneous adipose tissue, Death in infanc... OMIM:612289
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Hypoxemia, Patent duct... ORPHA:97214
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs, Failure to thrive ORPHA:289
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Truncal obesity ORPHA:404448
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Patent ductus arteriosus ORPHA:2519
Otopalatodigital Syndrome Type 2
Failure to thrive, Pulmonary hypoplasia ORPHA:90652
Kniest Dysplasia
Respiratory distress OMIM:156550
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria ORPHA:100050
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Fabry Disease
Emphysema, Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin, Dyspnea, Mucos... ORPHA:324
Greenberg Dysplasia
Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:215140
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Failure to thrive, Flushing ORPHA:2131
Leptospirosis
Respiratory distress, Jaundice, Pulmonary hemorrhage, Pleural effusion ORPHA:509
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Patent ductus arteriosus OMIM:217980
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Vacterl With Hydrocephalus