Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wingless-type MMTV integration site family, member 7B
Synonyms:
Wnt-7b

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 Wnt7b 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.

The table below shows human diseases associated to Wnt7b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Matthew-Wood Syndrome
Pulmonary hypoplasia, Abnormal lung morphology ORPHA:2470

The table below shows human diseases predicted to be associated to Wnt7b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death, Apnea OMIM:615228
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... OMIM:245650
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure OMIM:253300
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... OMIM:619773
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopa... OMIM:619003
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... OMIM:265120
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat... OMIM:263000
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Death in in... OMIM:614096
Asbestos Intoxication
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pulmonary edema... ORPHA:70587
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Respiratory insufficiency, Abn... ORPHA:724
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Hypertension, Pulmonary fibrosis ORPHA:2111
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... OMIM:265450
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, T... ORPHA:70589
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... OMIM:234810
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:723
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy ORPHA:139406
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Respiratory failure, Apnea OMIM:613869
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Neonatal death OMIM:615524
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure, Respiratory failure, Respiratory failure requiri... ORPHA:132
Acute Lung Injury
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Resp... ORPHA:178320
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Tachypnea, Restrictive ventilato... ORPHA:2257
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Nasal polyposis, Respiratory insufficiency, Chronic rhinitis, Decr... OMIM:618695
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... OMIM:253240
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension OMIM:267430
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:616081
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failure OMIM:618328
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Nonproductiv... ORPHA:60032
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma ORPHA:1164
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Interlobular septal thickening, Intraalveolar phospholipid ac... OMIM:614370
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Hypertension OMIM:616733
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Recurrent respiratory infections, Death in adolescence, Respiratory insuffici... OMIM:618042
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Nephronophthisis 2
Respiratory insufficiency, Pulmonary hypoplasia, Hypertension, Pulmonary insufficiency, Respirato... OMIM:602088
Idiopathic Pulmonary Hemosiderosis
Dyspnea, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Restrictive ventilator... ORPHA:99931
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Ple... ORPHA:36238
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Adult Acute Respiratory Distress Syndrome
Vasculitis, Dyspnea, Hypotension, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia... ORPHA:70578
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Recurrent respiratory infections ORPHA:2432
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Recurrent respiratory infections, Cough, Decreased nasal nitric ox... OMIM:300991
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic sinusitis, Nasal polyposis, Respiratory insufficiency, ... OMIM:616037
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Br... OMIM:608644
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Scedosporiosis
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Cough, Pulmonary fibrosis, Sinusit... ORPHA:449280
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... ORPHA:2590
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Palpitations, Pulmonary hypoplasia, Hypoxemia, Pulmonary sequestra... ORPHA:2847
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, A... ORPHA:244
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Abnormal axon... OMIM:613808
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hemothorax, Joint hemorrhage OMIM:262850
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... ORPHA:79
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Pulmonary hypoplasia, Neonatal death OMIM:236500
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:224410
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic sinusitis, Cough, Chronic rhinitis, Decreased nasal nitric... OMIM:612444
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... ORPHA:217563
Immunodeficiency 54
Respiratory insufficiency, Recurrent respiratory infections, Respiratory failure OMIM:609981
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Absent central mic... OMIM:617091
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure OMIM:614399
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonic stenosis, Pulmonary hypoplasia, Stillbirth, Aortic valve stenosis, Hypertrophic cardiomy... OMIM:615415
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... ORPHA:454836
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Chronic bronchitis, Respiratory insufficiency due to defective cil... OMIM:614874
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... OMIM:613807
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di... ORPHA:264675
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Paroxysmal dyspnea, Respiratory failure,... ORPHA:563
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Pulmonary fi... OMIM:612387
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death, Apnea OMIM:610127
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal heart rate variability, Atelectas... ORPHA:70588
Familial Nasal Acilia
Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Scimitar Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Cough, Heart block, Pulmonary ... ORPHA:185
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Pu... OMIM:178600
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Thanatophoric Dysplasia
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:2655
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy OMIM:241800
Pulmonary Alveolar Microlithiasis
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... ORPHA:60025
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Left ventricular out... ORPHA:308552
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced left ventricular ejection fraction, Hypotension, Heart block, Arrhythmia, Hypoxemia, Capi... ORPHA:542323
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:612650
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:615444
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Respiratory failure, Neonatal death OMIM:619334
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:187600
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:994
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Lymphatic Malformation 12
Neonatal respiratory distress, Death in adolescence, Neonatal death, Pleural thickening, Recurren... OMIM:620014
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Cough, Palpitations, Hypoxemia, Ischemic ... ORPHA:2038
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Recurre... ORPHA:99050
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory infections in early life, Miscar... ORPHA:96179
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Serkal Syndrome
Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure ORPHA:2759
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, N... OMIM:245400
Afibrinogenemia, Congenital
Death in childhood, Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemor... OMIM:202400
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic sinusitis, Nasal polyposis, Productive cough, Chronic rhin... OMIM:617092
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Abnormal EKG, Systoli... ORPHA:980
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Intracranial hemorrhage, Respiratory f... ORPHA:3226
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia, Congestive heart failure, Cardiomyopathy OMIM:616866
Diffuse Alveolar Hemorrhage
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... ORPHA:90060
Mercury Poisoning
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Interstitial pneum... ORPHA:330021
Snakebite Envenomation
Gingival bleeding, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymosis, Cerebral ... ORPHA:449285
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Hypertension OMIM:191830
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Dyspnea, Mitral regurgitation, Syncope, Pulmonary venous hypert... ORPHA:75249
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Decreased nasal nitric oxide,... OMIM:618063
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... OMIM:106700
Niemann-Pick Disease, Type C2
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, P... OMIM:607625
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Alveolar capillary dysplasia, Agenesis of pulmonary vessels, Respirator... OMIM:601186
Hyperekplexia 4
Respiratory failure OMIM:618011
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary arterial hypertension, Pulmonary hypoplasia, Respirat... ORPHA:3309
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive vent... ORPHA:79128
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Atrial Septal Defect, Sinus Venosus Type
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... ORPHA:99105
Alg3-Cdg
Pulmonary hypoplasia, Cardiomyopathy ORPHA:79321
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Recurrent lower respiratory t... OMIM:618699
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure, Central sleep apnea, Apnea ORPHA:168486
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Pulmonic stenosis, Cough, Tricusp... ORPHA:2414
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia, Stillbirth OMIM:151210
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Hypertrophic cardiomyopathy OMIM:619386
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Dyspnea, Vasculitis, Cough, Pulmonary embolism, Cardiorespirator... ORPHA:228116
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Tachypnea, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure... OMIM:614299
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Recurrent respiratory infections, Dyspnea, Aspiration, Cough, Stridor ORPHA:2004
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia OMIM:618316
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary ai... OMIM:611812
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Kagami-Ogata Syndrome
Pulmonary hypoplasia, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:608149
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Pulmonary hypoplasia, Neonatal death OMIM:314390
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Respiratory insufficiency, Death in infa... ORPHA:1120
Diaphanospondylodysostosis
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory distress, Tracheomalacia OMIM:608022
Riddle Syndrome
Bronchitis, Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Telangiectasia... ORPHA:420741
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia, Hypertension, Neonatal death, Portal hypertension, Hematemesis OMIM:263200
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Neonatal death, Res... OMIM:605711
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Obstructive sleep apnea, Congestive heart failure, Respiratory failure, Hype... ORPHA:70472
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:616897
Meacham Syndrome
Death in childhood, Pulmonary hypoplasia, Death in infancy, Neonatal death, Stillbirth, Cardiac t... OMIM:608978
Gaucher Disease, Perinatal Lethal
Pulmonary hypoplasia, Apnea, Respiratory distress, Purpura, Neonatal death, Petechiae OMIM:608013
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Pulmonary hypoplasia, Bidirectional shunt, Respiratory failur... OMIM:619351
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Neonatal respiratory distress, Restrictive ventilatory de... ORPHA:70
Matthew-Wood Syndrome
Pulmonary hypoplasia, Abnormal lung morphology ORPHA:2470
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, C... OMIM:310200
Congenital Tricuspid Valve Dysplasia
Tachypnea, Systolic heart murmur, Hypoxemia, Tricuspid regurgitation, Respiratory failure, Respir... ORPHA:555874
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure ORPHA:171433
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Orthopnea, Exertiona... ORPHA:98913
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Pulmonary arterial hypertension, Atelectasis, Reduced left ventricular ejection fract... ORPHA:258
Meckel Syndrome 14
Mitral regurgitation, Pulmonary hypoplasia, Cardiorespiratory arrest, Tricuspid regurgitation, Pn... OMIM:619879
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Gastrointestinal hemorrhage, Congestive heart fail... ORPHA:90308
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Respiratory failure, Telangiectasia of t... ORPHA:679
Cardiomyopathy, Dilated, 2H
Neonatal death, Cardiorespiratory arrest, Reduced left ventricular ejection fraction, Tachypnea OMIM:620203
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Arrhythmia, Respiratory failure, Dilat... ORPHA:352447
Achondroplasia
Upper airway obstruction, Pulmonary hypoplasia, Death in infancy, Respiratory distress OMIM:100800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure OMIM:312170
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Mitochondrial Complex I Deficiency, Nuclear Type 10
Sleep apnea, Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Cardiomyopathy, Death in infancy, Neonatal death, Stillbirth, Respiratory fai... OMIM:614922
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration OMIM:256000
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Neonatal respiratory distress,... ORPHA:209905
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Abnormal respiratory system physiology, Pneumonia, Respiratory ... ORPHA:98905
Congenital Myopathy 17
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Severely reduced left ventricular ejection fraction, Congestive h... ORPHA:444013
Pontocerebellar Hypoplasia Type 1
Congenital laryngeal stridor, Respiratory failure ORPHA:2254
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Palpitations, Hype... ORPHA:340
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Joubert Syndrome 21
Dyspnea, Chronic sinusitis, Pulmonary hypoplasia, Apnea, Respiratory failure OMIM:615636
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Death in infancy, Congestive heart failure, Respiratory failure, Hypertrophic cardiom... ORPHA:1194
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:251230
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Respiratory failure, Pleural effusion, Chylothorax ORPHA:3015
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Death in infancy, Peripher... OMIM:613177
Antisynthetase Syndrome
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Respiratory insuf... ORPHA:81
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Inspiratory stridor, Ventilator dependence with inability to wean, Respiratory failure, Tachypnea OMIM:604320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Reduced vital capacity, Respiratory failure OMIM:603689
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia, Death in infan... OMIM:208500
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Caudal Regression Syndrome
Pulmonary hypoplasia, Hypertension ORPHA:3027
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakn... ORPHA:365
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Aortopulmon... OMIM:620025
Genitopatellar Syndrome
Pulmonary hypoplasia, Apnea ORPHA:85201
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis OMIM:619708
Complete Atrioventricular Septal Defect
Intercostal retractions, Abnormal EKG, Right bundle branch block, Wheezing, Third heart sound, Sy... ORPHA:1329
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs ORPHA:2570
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Geleophysic Dysplasia 3
Dyspnea, Mitral regurgitation, Sleep apnea, Pneumonia, Respiratory failure OMIM:617809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Atrial Septal Defect, Ostium Secundum Type
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Breathing dysreg... ORPHA:99103
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Pulmonary hypoplasia, Atelectasis, Neonatal death OMIM:269860
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Death in infanc... OMIM:601559
Alg1-Cdg
Cardiomyopathy, Respiratory failure ORPHA:79327
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Pul... OMIM:618278
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Central apnea, Respiratory failure, Subdural he... OMIM:618291
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth OMIM:616300
Familial Dilated Cardiomyopathy
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... ORPHA:217607
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Respiratory failure ORPHA:363400
Esophageal Atresia
Recurrent respiratory infections, Bronchitis, Aspiration, Chronic pulmonary obstruction, Laryngot... ORPHA:1199
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Renal Agenesis
Pulmonary hypoplasia, Hypertension ORPHA:411709
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Right ventricular failure, Synco... ORPHA:99104
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:93274
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Hereditary Motor And Sensory Neuropathy, Type Iic
Obstructive sleep apnea, Intercostal muscle weakness, Respiratory failure, Stridor OMIM:606071
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Tracheomalacia, Atelectasis, Bruising susceptibility, Restrictive ventil... ORPHA:536467
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:214100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ... OMIM:616482
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Pagod Syndrome
Arrhythmia, Pulmonary hypoplasia, Death in infancy, Pulmonary artery hypoplasia, Sudden cardiac d... ORPHA:991
Truncus Arteriosus
Pulmonary artery atresia, Pulmonic stenosis, Pulmonary hypoplasia, Pulmonary artery hypoplasia, A... ORPHA:3384
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Hypertension ORPHA:2260
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... ORPHA:99106
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgitation, Tachycar... ORPHA:99125
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:2990
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Pulmonary hypoplasia OMIM:200995
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Aortic valve stenosis, Portal hypertension, Neonatal death OMIM:208540
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Dyspnea, Telangiectasia of the skin, Hypertension, Cardiorespiratory... ORPHA:3342
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... OMIM:615067
Nocardiosis
Pleuritis, Dyspnea, Productive cough, Nonproductive cough, Respiratory distress, Pneumonia, Emphy... ORPHA:31204
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Pulmonic stenosis OMIM:619148
Distal Triplication 15Q
Pulmonary hypoplasia ORPHA:314588
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy OMIM:607598
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Respiratory insufficiency due to muscle weakness, Respiratory distress, Respi... OMIM:220110
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Granulomatosis With Polyangiitis
Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Diffuse alveolar hemorrhage, R... OMIM:608710
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Hypoxemia, Nasal mucosa telangiectasia, Transient ischemic attack, Palate tel... OMIM:187300
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Respiratory failure ORPHA:803
Raine Syndrome
Pulmonary hypoplasia, Death in infancy, Neonatal death OMIM:259775
Triosephosphate Isomerase Deficiency
Death in adolescence, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness... OMIM:615512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Arr... OMIM:608836
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... OMIM:615343
Bickerstaff Brainstem Encephalitis
Hypercapnia, Dyspnea, Respiratory tract infection, Respiratory failure, Pneumonia, Respiratory fa... ORPHA:79138
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Central hypoventilation, Respiratory distress, Apnea, Co... ORPHA:70474
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Arrhythmia, Congestive heart failure, Respiratory failure, Dilated car... OMIM:609015
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Mosaic Trisomy 1
Pulmonary hypoplasia, Pulmonary artery atresia ORPHA:1692
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Cardiorespiratory arrest, Co... ORPHA:26791
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Boutonneuse Fever
Vasculitis, Respiratory failure, Petechiae ORPHA:83313
Atelosteogenesis Type Ii
Pulmonary hypoplasia, Tracheobronchomalacia ORPHA:56304
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... ORPHA:97292
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Fixed Subaortic Stenosis
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Paroxysmal atrial fibril... ORPHA:3092
Autosomal Recessive Polycystic Kidney Disease
Pulmonary hypoplasia, Hypertension, Spontaneous pneumothorax, Hypoventilation, Recurrent pneumoni... ORPHA:731
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Respiratory insufficiency, Arrhythmia, Cardiomyopathy, Tricuspid regurgitat... ORPHA:746
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure OMIM:619847
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Respiratory failure, Bradypnea OMIM:617186
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:265000
Tarp Syndrome
Pulmonary hypoplasia, Apnea ORPHA:2886
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Greenberg Dysplasia
Stillbirth, Pulmonary hypoplasia, Abnormal lung lobation, Neonatal death OMIM:215140
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia OMIM:308050
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
Alg9-Cdg
Pulmonary hypoplasia, Asthma, Abnormal lung lobation, Tricuspid regurgitation ORPHA:79328
Bloom Syndrome
Bronchitis, Chronic pulmonary obstruction, Respiratory tract infection, Telangiectasia, Respirato... ORPHA:125
Ogden Syndrome
Aspiration, Pulmonary arterial hypertension, Ventricular tachycardia, Restrictive ventilatory def... OMIM:300855
Mosaic Trisomy 16
Pulmonary hypoplasia, Abnormal lung morphology ORPHA:1708
Polycythemia Vera
Gingival bleeding, Bruising susceptibility, Respiratory insufficiency, Pulmonary embolism, Hypert... ORPHA:729
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Neonatal death OMIM:617925
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... ORPHA:2020
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Restrictive ventilatory defect, Respiratory insufficiency, Pulmonary hypoplasi... ORPHA:536471
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1860
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Death in infanc... OMIM:612289
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Dyspnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, D... OMIM:610505
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Death in infancy, Apnea, Neonatal death, Respiratory failure, Bradycardia, Respiratory ... OMIM:617248
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Portal hypertension, Emphysema, Respiratory failure, Tachypnea,... OMIM:613658
Meier-Gorlin Syndrome 7
Heart block, Pulmonary hypoplasia, Second degree atrioventricular block OMIM:617063
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia, Tricuspid regurgitation OMIM:263520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Cardiomyopathy, Respiratory failure ORPHA:88618
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Prolonged prothrombin time, Respiratory failure, Hypertrophic cardiomy... OMIM:618329
Listeriosis
Myocarditis, Miscarriage, Respiratory distress, Congestive heart failure, Arteritis, Pneumonia, R... ORPHA:533
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability, Respiratory failure ORPHA:206436
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Elevate... ORPHA:275766
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Fryns Syndrome
Stillbirth, Pulmonary hypoplasia, Chylothorax OMIM:229850
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Dyspnea, Hypertension, Pulmonary embolism, Respiratory tract infection, Pleural effusion ORPHA:567546
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Miscarriage, Restrictive ventilatory defect, Pulmonary hypoplasi... ORPHA:96334
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension, Respiratory failure, Respiratory failure requiring ... ORPHA:2912
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent lower respiratory tract infections, Budd-Chiari syndrome OMIM:226300
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Tuberous Sclerosis Complex
Hypertension, Respiratory tract infection, Respiratory distress, Pulmonary lymphangiomyomatosis, ... ORPHA:805
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Dpagt1-Cdg
Pulmonary hypoplasia, Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Cardiac-Urogenital Syndrome
Tracheomalacia, Tachycardia, Pulmonary hypoplasia, Scimitar anomaly, Prolonged bleeding time, Par... OMIM:618280
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Miscarriage, Pulmonary embolism, Transient ischemic... ORPHA:464343
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Respiratory failure, Pneumonia, Pneumothorax, Bradycardia, Stridor... ORPHA:79404
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Impaired myocardial contractility, Respiratory failure ORPHA:158687
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent pneumonia, Respiratory failure, Recurrent respirato... ORPHA:647
Ulbright-Hodes Syndrome
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax ORPHA:3404
Leigh Syndrome
Hypertrophic cardiomyopathy, Congestive heart failure, Respiratory failure, Abnormal pattern of r... ORPHA:506
Smith-Lemli-Opitz Syndrome
Pulmonary hypoplasia, Hypertension, Death in infancy, Ventricular fibrillation, Hypertrophic card... OMIM:270400
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... ORPHA:99827
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia OMIM:208150
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:2753
Smith-Lemli-Opitz Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:818
Hereditary Hemorrhagic Telangiectasia
Subarachnoid hemorrhage, Pulmonary arterial hypertension, Cerebral hemorrhage, Retinal telangiect... ORPHA:774
Osteogenesis Imperfecta
Neonatal respiratory distress, Bruising susceptibility, Cerebral hemorrhage, Pulmonary hypoplasia... ORPHA:666
Restrictive Dermopathy 1
Stillbirth, Pulmonary hypoplasia, Neonatal death OMIM:275210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Costello Syndrome
Tracheomalacia, Pulmonic stenosis, Respiratory insufficiency, Arrhythmia, Obstructive sleep apnea... OMIM:218040
Meacham Syndrome
Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Pulmonary sequestration, Aort... ORPHA:3097
Distal Deletion 15Q
Pulmonary hypoplasia, Mitral stenosis ORPHA:1596
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death in infancy, Apnea, Respi... OMIM:252010
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia, Respiratory distress ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Reduced FEV1/FVC ratio, Abnormal T-wave, Central sleep apnea, Ri... ORPHA:70591
Neu-Laxova Syndrome 1
Stillbirth, Pulmonary hypoplasia, Neonatal death OMIM:256520
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs ORPHA:1834
Tetrasomy 9P
Raynaud phenomenon, Pulmonary hypoplasia, Pulmonary arterial hypertension, Pericarditis ORPHA:3310
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory failure ORPHA:646
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Diffuse alveolar h... OMIM:130050
Mitochondrial Complex I Deficiency, Nuclear Type 32
Death in childhood, Respiratory failure OMIM:618252
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Meckel Syndrome, Type 1
Pulmonary hypoplasia OMIM:249000
Fraser Syndrome
Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation ORPHA:2052
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Dyspnea, Cough, Pulmonary embolism, Intracranial hemorrhage, Pulmonary fibros... ORPHA:3260
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:93271
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Respiratory insufficiency, Respirat... ORPHA:273
Abetalipoproteinemia
Prolonged prothrombin time, Congestive heart failure, Respiratory failure, Abnormal bleeding ORPHA:14
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Transient ischemic attack, Unilateral lung agenesis, Emphysema, Respiratory failure ORPHA:500150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Restrictive Dermopathy
Pulmonary hypoplasia ORPHA:1662
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Mitral regurgitation, Arrhythmia, Tricuspid regurgitation, Respiratory distress, Respira... ORPHA:2556
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Myhre Syndrome
Respiratory insufficiency, Aortic valve stenosis, Hypertension, Respiratory failure OMIM:139210
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature, Telangiectasia of the ... ORPHA:2092
Fraser Syndrome 2
Respiratory failure OMIM:617666
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Holoprosencephaly
Respiratory insufficiency, Arrhythmia, Aplasia/Hypoplasia of the lungs ORPHA:2162
Pallister-Killian Syndrome
Hyperventilation, Pulmonary hypoplasia, Stillbirth, Aortic valve stenosis, Hypertrophic cardiomyo... OMIM:601803
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:304120
Multiple Osteochondromas
Hemothorax, Pneumothorax ORPHA:321
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:280
Craniofacial Microsomia
Pulmonary hypoplasia OMIM:164210
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wnt7b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wnt7b.

No publications found that use IMPC mice or data for Wnt7b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wnt7btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Wnt7btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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