Gene: Nfib MGI:103188

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor I/B

Synonyms:

E030026I10Rik, 6720429L07Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Nfib 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.

Human diseases associated with Nfib (1 diseases)
Human diseases predicted to be associated with Nfib (1162 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Macrocephaly, Acquired, With Impaired Intellectual Development		Long philtrum, Ventriculomegaly, Thin corpus callosum, Unilateral cryptorchidism, Probst bundles,...	OMIM:618286

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

Disease	Matching phenotypes	Source
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo...	ORPHA:70589
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Asbestos Intoxication	Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ...	ORPHA:2302
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of...	OMIM:604213
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec...	OMIM:619466
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi...	OMIM:615872
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy...	OMIM:267450
Immunodeficiency 95	Respiratory distress, Ground-glass opacification, Respiratory failure, Recurrent viral upper resp...	OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Primary microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Polym...	ORPHA:171703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Neonatal death, Pulmonary hypoplasia	OMIM:615228
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res...	OMIM:263000
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Lissencephaly, Partial agenes...	OMIM:610031
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par...	OMIM:610921
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D...	ORPHA:60032
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low...	OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia	Ground-glass opacification, Nodular pattern on pulmonary HRCT, Dyspnea, Cough	ORPHA:60026
Acute Interstitial Pneumonia	Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho...	ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Neonatal deat...	OMIM:265120
Infant Acute Respiratory Distress Syndrome	Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai...	ORPHA:70587
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp...	ORPHA:922
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat...	OMIM:614039
X-Linked Neurodegenerative Syndrome, Bertini Type	Recurrent bronchopulmonary infections, Agenesis of corpus callosum, Death in infancy	ORPHA:85334
Schizencephaly	Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	OMIM:269160
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Microce...	OMIM:608716
Lissencephaly 4	Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Lissencephaly, Agenesis of...	OMIM:614019
Pulmonary Blastoma	Pulmonary infiltrates, Pleuropulmonary blastoma, Recurrent pneumonia, Dyspnea, Cough	ORPHA:64741
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Atelectasis	OMIM:300455
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Cleft palate, Intrauterine growth retardat...	OMIM:616570
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Death in childhood, Recurrent respiratory infections	OMIM:253300
Lissencephaly 3	Hypoplasia of the brainstem, Ventriculomegaly, Agyria, Polymicrogyria, Lissencephaly, Microcephal...	OMIM:611603
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ...	ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia	Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura...	ORPHA:2902
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c...	OMIM:610978
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly...	OMIM:615771
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre...	OMIM:610913
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Waardenburg Syndrome Type 3	Downslanted palpebral fissures, Blepharophimosis, Acrocyanosis, Tracheomalacia, Thick eyebrow, Te...	ORPHA:896
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Pneumonia, Agenesis ...	ORPHA:85179
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Simpl...	OMIM:617090
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator...	ORPHA:3348
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Periventricular cysts, Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morph...	ORPHA:255182
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Abnormal brainstem morphology, Lateral ventr...	ORPHA:300573
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Abnormal breath sound, Epicanthus, Asthma, Hypoxemia, Pulmonary hypoplasi...	ORPHA:2257
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Death in infancy, Cerebellar hypoplasia, Simplified gyral pattern, H...	OMIM:619302
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Everted lower lip vermilion, Hypoplasia of the pons, Parti...	OMIM:618959
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE...	ORPHA:1303
Autosomal Recessive Spastic Paraplegia Type 69	Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:401830
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Larynx Atresia	Respiratory insufficiency, Recurrent respiratory infections	ORPHA:1202
Pneumocystosis	Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Combined cystic and gro...	ORPHA:723
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect...	ORPHA:1302
Autosomal Recessive Spastic Paraplegia Type 67	Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:401820
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress	OMIM:619003
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L...	OMIM:610910
Idiopathic Acute Eosinophilic Pneumonia	Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Restrictive ventila...	ORPHA:724
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Exertional dyspnea, Bilateral ptosis, Pulmonary fibrosis, Bronchiolitis, Atelectasis	ORPHA:254361
Pleural Mesothelioma	Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural...	ORPHA:50251
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Congenital Pulmonary Airway Malformation	Respiratory insufficiency, Abnormal pleura morphology	ORPHA:2444
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Hypoplasia of the corpus callosum, Abnormal basal ganglia mo...	ORPHA:101029
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Periventricular leukomalacia, Recurrent respiratory infections, Agenesis of c...	OMIM:618324
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	High palate, Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the corpus callosum, Dental...	OMIM:612948
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Hypoxemia, Respiratory distress	ORPHA:2140
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Ventriculomegaly, Agenesis of corpus callosum, Downturned corners of mouth, Hypoplasia of the cor...	ORPHA:262767
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the brainstem, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, H...	OMIM:619301
Macrocephaly, Acquired, With Impaired Intellectual Development	Long philtrum, Ventriculomegaly, Thin corpus callosum, Unilateral cryptorchidism, Probst bundles,...	OMIM:618286
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:2466
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti...	ORPHA:79127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermi...	OMIM:613153
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted...	ORPHA:90117
Lissencephaly, X-Linked, 1	Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum	OMIM:300067
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Orofaciodigital Syndrome Xv	Lobulated tongue, Ventriculomegaly, Molar tooth sign on MRI, Midline notch of upper alveolar ridg...	OMIM:617127
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Bronchogenic Cyst	Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Dyspnea,...	ORPHA:2357
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Interstitial Lung Disease 1	Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev...	OMIM:619611
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Respiratory insufficiency, Ptosis, Respiratory tract infection, Neonatal respiratory distress	OMIM:616326
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Hypoplasia of the brainstem, Simplified gyral pattern, Microcephaly, Cerebral atrophy, Hypoplasia...	OMIM:618492
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Microglossia, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616540
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz...	ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy	OMIM:614096
Acute Lung Injury	Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres...	ORPHA:178320
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Corpus Callosum, Partial Agenesis Of, X-Linked	Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ...	OMIM:304100
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ...	ORPHA:250972
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega...	ORPHA:171680
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Cerebral atrophy, Hypoplasia of the corpus callosum, Triangular mouth, A...	ORPHA:166024
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Emphysema, Hereditary Pulmonary	Chronic bronchitis, Chronic pulmonary obstruction, Emphysema	OMIM:130700
Gaba-Transaminase Deficiency	Death in childhood, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Laryngotracheoesophageal Cleft	Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato...	ORPHA:2004
Ciliary Dyskinesia, Primary, 5	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:608647
Staphylococcal Necrotizing Pneumonia	Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi...	ORPHA:36238
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly	OMIM:303350
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim...	OMIM:615095
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:616867
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe...	OMIM:178500
Hydrolethalus Syndrome 2	Ventriculomegaly, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of ...	OMIM:614120
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agen...	OMIM:600348
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Microcephaly 16, Primary, Autosomal Recessive	Primary microcephaly, Simplified gyral pattern, Cryptorchidism, Open mouth, Agenesis of corpus ca...	OMIM:616681
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress	OMIM:619057
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, Ptosis, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Ventriculomegaly, Abnormal cerebral white matter morphology, Mild malformation of cortical develo...	ORPHA:500166
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea	OMIM:611722
Pulmonary Hemosiderosis	Respiratory insufficiency, Transient pulmonary infiltrates, Pulmonary fibrosis, Recurrent intrapu...	OMIM:178550
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R...	ORPHA:2032
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm...	OMIM:234810
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Bilateral ptosis, Ventilator dependence with inability to wean, Respir...	ORPHA:254875
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Wide mouth, Widely spaced teeth, Simplified gyral pattern, Lissencephaly, Micro...	OMIM:616212
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Recurrent aspiration pneum...	ORPHA:79243
Idiopathic Pulmonary Hemosiderosis	Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ...	ORPHA:99931
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	High palate, Ventriculomegaly, Abnormal globus pallidus morphology, Microcephaly, Hypoplasia of t...	OMIM:618603
Congenital Neuronal Ceroid Lipofuscinosis	Ventriculomegaly, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral corte...	ORPHA:168486
Primary Ciliary Dyskinesia	Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova...	ORPHA:244
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Perisylvian polymicrogyria, Cerebellar hypoplasia, Narrow mouth, Microc...	OMIM:600118
Idiopathic Bronchiectasis	Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio...	ORPHA:60033
Mismatch Repair Cancer Syndrome 4	Colon cancer, Adenomatous colonic polyposis, Agenesis of corpus callosum	OMIM:619101
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Respiratory distress, Atelectasis, Death in infancy	OMIM:300219
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies	Respiratory insufficiency, Respiratory failure	OMIM:208081
3Q13 Microdeletion Syndrome	Long philtrum, Agenesis of corpus callosum, Cryptorchidism	ORPHA:1621
Microphthalmia, Syndromic 12	Pulmonary hypoplasia	OMIM:615524
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ptosis, Pulmonary hypoplasia, Stillbirth	OMIM:617468
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr...	ORPHA:1528
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Respiratory distress	OMIM:616733
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ...	OMIM:614370
Avian Influenza	Conjunctivitis, Pulmonary infiltrates, Pneumothorax, Productive cough, Hypoxemia, Respiratory dis...	ORPHA:454836
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Tracheal Agenesis	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs	ORPHA:3346
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Gaucher Disease Type 2	Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory infections	ORPHA:77260
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Narrow mouth, Microcephaly, Cryptorchidism, Thin vermilion border, Frontal cortical atrophy, Pari...	OMIM:618766
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Ce...	ORPHA:199241
Usmani-Riazuddin Syndrome, Autosomal Recessive	High palate, Agenesis of corpus callosum	OMIM:619548
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death, Bilateral lung agenesis	OMIM:601612
Encephalopathy Due To Prosaposin Deficiency	Respiratory insufficiency, Recurrent respiratory infections, Death in infancy	ORPHA:139406
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P...	ORPHA:2414
Apnea, Central Sleep	Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration	OMIM:207720
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d...	ORPHA:747
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Congenital Tracheomalacia	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy...	ORPHA:95430
Atelosteogenesis, Type Ii	Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy	OMIM:256050
Lissencephaly 7 With Cerebellar Hypoplasia	Cerebellar hypoplasia, Death in infancy, Agyria, Lissencephaly, Microcephaly, Neonatal death, Age...	OMIM:616342
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Peri...	ORPHA:255138
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i...	OMIM:616414
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell...	OMIM:218670
Adult Acute Respiratory Distress Syndrome	Pulmonary infiltrates, Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory...	ORPHA:70578
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness	OMIM:300717
Chronic Beryllium Disease	Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system...	ORPHA:133
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy	OMIM:613869
Fetal Akinesia Syndrome, X-Linked	Arrhinencephaly, Stillbirth, Agenesis of corpus callosum	OMIM:300073
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Perching Syndrome	Cyanosis, Respiratory distress	OMIM:617055
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph...	OMIM:613490
Spinocerebellar Ataxia 23	Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Downslanted palpebral fissures, Epicanthus, Respiratory distress, Dyspnea, Respiratory failure, R...	ORPHA:2759
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Ventriculomegaly, Thin upper lip vermilion, Microcephaly, Pachyg...	ORPHA:2512
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Abno...	OMIM:617542
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology	ORPHA:1221
Cerebrooculofacioskeletal Syndrome 1	Long philtrum, Ventriculomegaly, Delayed eruption of teeth, Cerebellar hypoplasia, Diffuse cerebr...	OMIM:214150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Cystic Hamartoma Of Lung And Kidney	Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:2111
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress...	OMIM:618781
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno...	ORPHA:370959
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Thin upp...	OMIM:619517
Laryngotracheal Angioma	Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum...	OMIM:225790
Lissencephaly, X-Linked, 2	High palate, Long philtrum, Ventriculomegaly, Decreased testicular size, Agenesis of corpus callo...	OMIM:300215
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:616081
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age...	OMIM:307000
Chromosome 3Q13.31 Deletion Syndrome	High palate, Ventriculomegaly, Decreased testicular size, Short philtrum, Alobar holoprosencephal...	OMIM:615433
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Narrow palpebral fissure, Pulmonary hypoplasia, Stillbirth	OMIM:236500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Neonatal death, Pterygium, Pulmonary hypoplasia	OMIM:224410
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration	OMIM:618328
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Ptosis, Apneic episodes precipitated by illness, fatigue, stress, Sudden ep...	OMIM:254210
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Ciliary Dyskinesia, Primary, 1	Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Chronic...	OMIM:244400
Agnathia-Otocephaly Complex	Downslanted palpebral fissures, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress	OMIM:202650
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys...	ORPHA:266
Microhydranencephaly	Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly, Microcepha...	OMIM:605013
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia	OMIM:267430
Pontocerebellar Hypoplasia, Type 11	Cerebellar hypoplasia, Anal atresia, Hypoplasia of the pons, Microcephaly, Hypoplasia of the corp...	OMIM:617695
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Achondrogenesis Type 2	Cardiorespiratory arrest, Pulmonary hypoplasia	ORPHA:93296
Joubert Syndrome 18	Lobulated tongue, Molar tooth sign on MRI, Arrhinencephaly, Cleft palate, Occipital encephalocele...	OMIM:614815
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Ptosis	OMIM:618637
Congenital Arthrogryposis With Anterior Horn Cell Disease	Downslanted palpebral fissures, Ptosis, Respiratory failure, Neonatal death, Respiratory insuffic...	OMIM:611890
Scedosporiosis	Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy...	ORPHA:449280
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Lissencephaly, Optic nerve hypoplasia, Narrow mouth, Microcephaly, Cerebellar atrophy, Dysplastic...	OMIM:614833
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Optic nerve hypoplasia, Spina bifida occ...	OMIM:618736
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Congenital Myopathy 14	Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio...	ORPHA:60025
Glycine Encephalopathy	Agenesis of corpus callosum, Death in infancy	OMIM:605899
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Agenesis of corpus callosum, Cryptorchidism, Hypoplasia of the corpus call...	OMIM:164180
Thanatophoric Dysplasia	Respiratory insufficiency, Downslanted palpebral fissures, Pulmonary hypoplasia	ORPHA:2655
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Choanal Atresia	Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o...	ORPHA:137914
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Ptosis, Apneic episodes precipitated by illness, fatigue, stress, Sudden ep...	OMIM:605809
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak...	ORPHA:2590
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Long philtrum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Cryptorchidism, Hypo...	OMIM:618577
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Holoprosencephaly 11	Holoprosencephaly, Microcephaly, Cleft lip, Cleft palate, Agenesis of corpus callosum	OMIM:614226
Baraitser-Winter Syndrome 2	Long philtrum, Wide mouth, Ventriculomegaly, Lissencephaly, Thin upper lip vermilion, Secondary m...	OMIM:614583
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Neonatal death, Agenesis of corpus callosum	OMIM:610498
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Cavum septum pellucidum, Short philtrum, Partial agenesis of the corpus callosu...	OMIM:619074
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Cerebral atrophy, Agenesis of corpus callosum, Death in infancy	OMIM:600329
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp...	ORPHA:2182
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Pulmonary hypoplasia, Respiratory distress, Neonatal death, Telecanthus	OMIM:231680
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Pterygium, Pulmonary hypoplasia	ORPHA:994
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Tetrasomy 5P	Pulmonary arterial hypertension, Cyanosis, Epicanthus, Pulmonary hypoplasia, Respiratory distress...	ORPHA:3309
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:619111
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Microcephaly, Agenesis of corpus callosum	OMIM:274270
Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus...	OMIM:612649
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog...	OMIM:612387
4Q21 Microdeletion Syndrome	Ventriculomegaly, Cerebellar hypoplasia, Short philtrum, Downturned corners of mouth, Thin vermil...	ORPHA:238750
Ciliary Dyskinesia, Primary, 23	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:615451
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p...	OMIM:606763
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia	ORPHA:2847
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia	ORPHA:238459
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough	ORPHA:1164
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer...	ORPHA:86822
Familial Spontaneous Pneumothorax	Abnormal pleura morphology, Pneumothorax	ORPHA:2903
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Dyspnea, Respiratory distress	ORPHA:1832
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615505
Tularemia	Conjunctivitis, Pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Respiratory d...	ORPHA:3392
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad...	OMIM:618042
X-Linked Centronuclear Myopathy	Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re...	ORPHA:596
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis	ORPHA:2901
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
6Q25 Microdeletion Syndrome	High palate, Long philtrum, Ventriculomegaly, Microcephaly, Cleft palate, Agenesis of corpus call...	ORPHA:251056
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Exertional dyspnea, Ptosis, Restrictive ventilatory defect, Orthopnea, Reduced vital ca...	ORPHA:98913
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp...	OMIM:616037
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology	ORPHA:314652
Marden-Walker Syndrome	Hypoplasia of the brainstem, High palate, Long philtrum, Cerebellar hypoplasia, Pyloric stenosis,...	OMIM:248700
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Pyloric stenosis, Hydrocephalus, Chiari type I malformation, Cryptorchidism, Hy...	OMIM:218350
Anaplastic Thyroid Carcinoma	Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of the lung	ORPHA:142
Gillessen-Kaesbach-Nishimura Syndrome	Telecanthus, Abnormal lung lobation, Pulmonary hypoplasia, Epicanthus	OMIM:263210
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Ptosis, Dyspnea, Stri...	OMIM:211530
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Everted l...	OMIM:616819
Odontochondrodysplasia 1	Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress, Death in infancy	OMIM:184260
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure	OMIM:614399
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615504
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Dyspnea, Decreased ...	OMIM:607616
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections	OMIM:609981
Lymphangioleiomyomatosis	Pulmonary infiltrates, Pneumothorax, Retinal hamartoma, Emphysema, Restrictive ventilatory defect...	ORPHA:538
Niemann-Pick Disease, Type C2	Respiratory insufficiency, Death in infancy, Jaundice, Respiratory failure, Prolonged neonatal ja...	OMIM:607625
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Cere...	OMIM:616602
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:2508
Joubert Syndrome 21	Apnea, Ptosis, Dyspnea, Pulmonary hypoplasia	OMIM:615636
Chitayat Syndrome	Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res...	OMIM:617180
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis	ORPHA:2314
Lissencephaly Syndrome, Norman-Roberts Type	Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Microlissencephaly, Hypopl...	ORPHA:89844
Pyruvate Dehydrogenase E1-Alpha Deficiency	Long philtrum, Ventriculomegaly, Basal ganglia cysts, Microcephaly, Cerebral atrophy, Agenesis of...	OMIM:312170
Farber Disease	Respiratory insufficiency, Abnormal conjunctiva morphology, Nodular pattern on pulmonary HRCT, Re...	ORPHA:333
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Primary microcephaly, Thick lower lip vermilion, Microcephaly, Agenesis of corpus callosum, Cereb...	ORPHA:466688
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog...	ORPHA:217563
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Agenesis of corpus callo...	OMIM:615286
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Hyp...	OMIM:617669
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Prim...	ORPHA:500144
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Long philtrum, Wide mouth, Deep philtrum, Ventriculomegaly, Thin corpu...	OMIM:619720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Hypoplasia of the brainst...	OMIM:613150
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:1548
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615500
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Brain stem c...	ORPHA:1136
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection	OMIM:620011
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Premature graying of hair, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Cra...	OMIM:614742
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Short philtrum, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth, Microcephaly,...	OMIM:618346
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure	OMIM:610127
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum, Abnormality of the dentition	ORPHA:2101
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,...	OMIM:608644
Tonne-Kalscheuer Syndrome	Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:300978
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Craniosynostosis 3	Dental malocclusion, Partial agenesis of the corpus callosum	OMIM:615314
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Microcephaly, Neonatal dea...	OMIM:619602
Nipah Virus Disease	Cough, Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Wide mouth, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Agenesis of corpus callosum	OMIM:619989
Lymphoid Interstitial Pneumonia	Respiratory tract infection, Parenchymal consolidation, Subpleural interstitial thickening, Bronc...	ORPHA:79128
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:187600
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Respiratory distress	ORPHA:238329
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal...	OMIM:619751
Diaphanospondylodysostosis	Respiratory insufficiency, Epicanthus, Pulmonary hypoplasia, Respiratory distress, Tracheomalacia	OMIM:608022
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Ground-glass opacificatio...	OMIM:300770
Brain Malformations With Or Without Urinary Tract Defects	Ventriculomegaly, Thin upper lip vermilion, Narrow mouth, Chiari type I malformation, Hypoplasia ...	OMIM:613735
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Diffuse Alveolar Hemorrhage	Pulmonary infiltrates, Hypoxemia, Ground-glass opacification, Restrictive ventilatory defect, Air...	ORPHA:90060
Vici Syndrome	Cerebral cortical atrophy, High palate, Cerebellar hypoplasia, Hypoplasia of the pons, Recurrent ...	ORPHA:1493
Multiple Pterygium Syndrome, X-Linked	Multiple pterygia, Pulmonary hypoplasia, Epicanthus	OMIM:312150
Familial Congenital Mirror Movements	Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum	ORPHA:238722
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Respiratory tract infection, High palate, Ventriculomegaly, Diffuse white matter abnormalities, A...	OMIM:218000
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction, Palpebral edema, Erythema, Angioedema, Urticaria	ORPHA:100057
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, High palate, Long philtrum, Lateral ventricle dilat...	OMIM:619244
Pallister-Hall-Like Syndrome	Pulmonary hypoplasia, Death in infancy	OMIM:241800
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Encephalocele, Agenesis of corpus callosum, Cryptorchidism, Agenesis of cerebellar...	ORPHA:228390
Ciliary Dyskinesia, Primary, 15	Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, C...	OMIM:613808
Microcephaly, Amish Type	Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Primary microcephaly, Cerebellar ...	OMIM:607196
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II...	OMIM:615249
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum	OMIM:225040
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Respiratory failure, Death in infancy	OMIM:616277
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Frontal encephalocele, Intrauterine growth...	ORPHA:521308
Congenital Myopathy 17	Respiratory insufficiency, Downslanted palpebral fissures, Respiratory tract infection, Pulmonary...	OMIM:618975
Intellectual Developmental Disorder, Autosomal Dominant 36	Ventriculomegaly, Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Tented upper li...	OMIM:616362
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Dworschak-Punetha Neurodevelopmental Syndrome	Microdontia, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Respiratory tract infection, Exertional dyspnea, Respiratory distress,...	ORPHA:365
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, High palate, Microcephaly	OMIM:245349
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Respiratory infections in early life, Pulmonary hypoplasia, Miscar...	ORPHA:96179
Amish Lethal Microcephaly	Ventriculomegaly, Cleft soft palate, Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpu...	ORPHA:99742
Autosomal Recessive Multiple Pterygium Syndrome	Downslanted palpebral fissures, Abnormal eyelid morphology, Epicanthus, Multiple pterygia, Pteryg...	ORPHA:2990
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Abnormal breath sound, Crackles, Restrictive ventilatory defect, Dysp...	ORPHA:210136
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Polymicrogyria, Agenesis of corpus callosum, Cryptorchidism	OMIM:618786
Multiple Pterygium Syndrome, Lethal Type	Multiple pterygia, Pulmonary hypoplasia, Epicanthus	OMIM:253290
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Primary microcephaly, Simplified gyral pattern, Widely spaced teeth, Parti...	OMIM:604804
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Downslanted palpebral fissures, Hypoventilation, Aspiration pneumonia, Sparse lateral eyebrow, Re...	ORPHA:314655
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, Central sleep apnea, Ptosis, Intermittent episodes of re...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, Central sleep apnea, Ptosis, Intermittent episodes of re...	ORPHA:98914
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi...	OMIM:612444
Meckel Syndrome 12	Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Bifid uvula, Microcephaly, Agenesis ...	OMIM:616258
Emanuel Syndrome	Chiari malformation, Ectopic anus, Delayed eruption of teeth, Ventriculomegaly, Bifid uvula, Clef...	ORPHA:96170
Chiari Malformation Type Ii	Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis...	OMIM:207950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebellar hypoplasia, Perive...	OMIM:616900
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Respiratory insufficiency due to defe...	OMIM:614874
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal cerebellar vermis m...	ORPHA:899
Hepatic Veno-Occlusive Disease	Respiratory failure, Jaundice	ORPHA:890
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, A...	OMIM:613807
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:3035
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Pterygium, Pulmonary hypoplasia, Miscarriage	ORPHA:1865
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:250999
Primary Effusion Lymphoma	Pleural effusion, Dyspnea	ORPHA:48686
Al-Gazali-Bakalinova Syndrome	Triangular mouth, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus ...	OMIM:607131
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Short palpebral fissure, Pulmonary hypoplasia, Blepharophimosis	OMIM:608149
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Abnormal ...	ORPHA:980
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Absent respiratory ciliary axoneme ...	OMIM:616481
Aspergillosis	Pulmonary infiltrates, Diffuse reticular or finely nodular infiltrations, Parenchymal consolidati...	ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Median cleft lip, Pericallosal lipoma, Wi...	OMIM:136760
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Oculocerebrofacial Syndrome, Kaufman Type	Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Thin eyebrow,...	ORPHA:2707
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Synophrys, Pulmonary hypoplasia, Pulmonary artery atresia, Recurrent respiratory infections, High...	OMIM:618316
Congenital Disorder Of Deglycosylation 2	High palate, Ventriculomegaly, Thin corpus callosum, Polymicrogyria, Macroglossia, Partial agenes...	OMIM:619775
Spastic Paraplegia 11, Autosomal Recessive	Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Degeneration of the ...	OMIM:604360
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Agenesis of corpus callosum, Cerebellar vermis hypoplasia	ORPHA:453521
Hydrolethalus	Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Hydrocephalus, Submucous cleft hard pa...	ORPHA:2189
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti...	OMIM:618278
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Intercos...	ORPHA:258
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu...	ORPHA:2038
Joubert Syndrome With Renal Defect	Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Polymicrogyria, Cer...	ORPHA:220497
Dysplastic Cortical Hyperostosis	Aplasia/Hypoplasia of the lungs	ORPHA:2204
Even-Plus Syndrome	High palate, Hypodontia, Anal atresia, Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Noncommunicating hydrocephalus, Long philtrum, Short philtrum, Downtur...	OMIM:619320
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Epicanthus	OMIM:614741
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Respiratory distress, Stillbirth	OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Progeroid facial appearan...	OMIM:613177
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
1Q44 Microdeletion Syndrome	High palate, Ventriculomegaly, Hydrocephalus, Intestinal malrotation, Microcephaly, Smooth philtr...	ORPHA:238769
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Epicanthus, Pulmonary hypoplasia, Neonatal death, Atelectasis	OMIM:269860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Telecanthus, Pulmonary hypoplasia	OMIM:616897
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Acromelic Frontonasal Dysplasia	Meningocele, Retrocerebellar cyst, Anterior pituitary hypoplasia, Encephalocele, Ventriculomegaly...	ORPHA:1827
Teebi Hypertelorism Syndrome 1	Downslanted palpebral fissures, Bilateral ptosis, Pulmonary hypoplasia, Upslanted palpebral fissu...	OMIM:145420
Maternal Uniparental Disomy Of Chromosome X	Thin vermilion border, Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Nasolacrimal Duct Cyst	Dacryocystitis, Abnormal breath sound, Intercostal retractions, Narrow palpebral fissure, Chronic...	ORPHA:141083
Scimitar Syndrome	Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Res...	ORPHA:185
Ritscher-Schinzel Syndrome 4	High palate, Narrow palate, Wide mouth, Cerebellar hypoplasia, Mild fetal ventriculomegaly, Short...	OMIM:619435
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Narrow mouth, Microglossia, Agenesis of ...	ORPHA:990
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos...	OMIM:600638
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	High palate, Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Intrauterine growth ...	OMIM:618142
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Short philtrum, Agenesis of corpus callosum	ORPHA:93267
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Foxg1 Syndrome	Progressive microcephaly, Abnormal corpus callosum morphology, Pachygyria, Hypoplasia of the corp...	ORPHA:561854
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Long philtrum, Lateral ventricle dilatation, Hydrocephalus, Submucous cleft hard pal...	OMIM:612863
Auriculocondylar Syndrome 2	Apnea, Ptosis, Snoring, Respiratory distress	OMIM:614669
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress	ORPHA:330021
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Recurrent sinusitis, Chro...	ORPHA:420741
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation, An...	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	High palate, Ventriculomegaly, Short philtrum, Everted lower lip vermilion, Tented upper lip verm...	OMIM:616449
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Respiratory failure...	ORPHA:308552
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Respiratory failure	OMIM:313420
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ...	ORPHA:99050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Partial...	OMIM:619103
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Gaucher Disease, Perinatal Lethal	Petechiae, Purpura, Pulmonary hypoplasia, Respiratory distress, Apnea, Neonatal death	OMIM:608013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Death in infancy, Cerebellar hypopl...	OMIM:614643
Leigh Syndrome	Respiratory insufficiency, Ptosis, Abnormal pattern of respiration, Respiratory failure	OMIM:256000
Goodpasture Syndrome	Cyanosis, Pulmonary infiltrates, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodul...	OMIM:233450
Baraitser-Winter Syndrome 1	Cleft upper lip, Long philtrum, Wide mouth, Ventriculomegaly, Lissencephaly, Thin upper lip vermi...	OMIM:243310
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:616866
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh...	OMIM:245400
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth	OMIM:615415
Lymphatic Malformation 12	Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,...	OMIM:620014
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615444
Combined Oxidative Phosphorylation Deficiency 24	Gliosis, Hypoplasia of the corpus callosum, Microcephaly, Cerebellar atrophy, Agenesis of corpus ...	OMIM:616239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Meningoencephalocele, Optic nerve hypoplasia, Type II lissencephaly, Cleft pala...	OMIM:236670
Encephalocraniocutaneous Lipomatosis	Cerebellar hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Hydrocephalus, Peripheral...	OMIM:613001
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Cryptorchidism	OMIM:175700
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Abnormal respiratory system physiology, Ptosis, Respiratory fai...	ORPHA:98905
Temtamy Syndrome	Long philtrum, Ventriculomegaly, Thick corpus callosum, Dental crowding, Hypoplasia of teeth, Age...	OMIM:218340
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Enlarged sylvian cistern, Wide mouth, Bifid uvula, Cerebellar vermis hypoplasi...	OMIM:615802
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Alpha-1-Antitrypsin Deficiency	Jaundice, Emphysema	ORPHA:60
Braddock-Carey Syndrome 1	Enamel hypoplasia, Pierre-Robin sequence, Everted lower lip vermilion, Anteriorly placed anus, Mi...	OMIM:619980
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Encephalocele, High palate, Delayed eruption of teeth, Advanced eruption of ...	OMIM:619148
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum	ORPHA:452
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,...	OMIM:618426
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne...	OMIM:617914
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Jeune Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs	ORPHA:474
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the brainstem, High palate, Normal pressure hydrocephalus, Lateral ventricle dilata...	ORPHA:300570
Coffin-Siris Syndrome 11	High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o...	OMIM:618779
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	High palate, Colpocephaly, Secondary microcephaly, Partial agenesis of the corpus callosum, Smoot...	OMIM:620113
Ring Chromosome 22 Syndrome	Pleural effusion, Protruding tongue, Microcephaly, Absent septum pellucidum, Agenesis of corpus c...	ORPHA:1446
Hyperekplexia 4	Respiratory failure	OMIM:618011
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea	ORPHA:542323
Microphthalmia, Syndromic 9	Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Blepharophimos...	OMIM:601186
Lujo Hemorrhagic Fever	Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Nonproductive cough, Atelectasis	ORPHA:319213
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections, Bruising susceptibility	ORPHA:3226
Desmosterolosis	Ventriculomegaly, Abnormal cortical gyration, Macrogyria, Bifid uvula, Hydrocephalus, Submucous c...	ORPHA:35107
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Meckel Syndrome 14	Cardiorespiratory arrest, Cyanosis, Pneumothorax, Pulmonary hypoplasia	OMIM:619879
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Ventriculomegaly, Cerebellar hypoplasia, Hypodontia, Optic nerve hypoplasia...	OMIM:301056
Subependymal Nodular Heterotopia	Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Focal cortical dysplasia,...	ORPHA:101030
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Cerebellar hypoplasia, Agenesis...	OMIM:618476
Succinic Acidemia	Respiratory distress	OMIM:600335
Fryns Syndrome	Non-midline cleft lip, Cerebral cortical atrophy, High palate, Long philtrum, Ectopic anus, Wide ...	ORPHA:2059
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Esophageal Atresia	Bronchitis, Cyanosis, Coloboma, Aspiration, Respiratory distress, Chronic pulmonary obstruction, ...	ORPHA:1199
Melioidosis	Respiratory tract infection, Abnormal parotid gland morphology, Lung abscess, Parotitis, Pneumoni...	ORPHA:31202
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Neonatal death, Death in childhood, Death in infancy	OMIM:619334
Joubert Syndrome With Ocular Defect	Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Polymicrogyria, Cer...	ORPHA:220493
Duplication Of The Pituitary Gland	Encephalocele, Wide mouth, Volvulus, Supernumerary tooth, Abnormal hypothalamus morphology, Abnor...	ORPHA:314621
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Ptosis, Dyspnea, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Blepharophimosis	ORPHA:2570
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Widely spaced teeth, Hydrocephalus, Dandy-Walker malformation, Cleft palate, Agenesis of corpus c...	ORPHA:459061
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky...	OMIM:174300
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Respiratory failure	ORPHA:370968
Relapsing Polychondritis	Conjunctivitis, Purpura, Abnormal pattern of respiration, Dyspnea, Cough, Erythema, Atelectasis	ORPHA:728
Microphthalmia With Brain And Digit Anomalies	High palate, Inferior cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Agenesis of cor...	ORPHA:139471
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ...	ORPHA:555874
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Emphysema, Bronchiolitis	OMIM:604571
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Exaggerated cup...	OMIM:618619
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis	OMIM:611812
Chromosome 1Q41-Q42 Deletion Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Pulmonary hypoplasia, Sparse eyebrow	OMIM:612530
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Small cerebral cortex, Short lingual frenulum, Microdontia, Periventri...	OMIM:617360
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Hypoplasia of the brainstem, High palate, Long philtrum, Simplified gyral pattern, Short philtrum...	OMIM:620001
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Microdontia, Hydrocephalus, Supernumerary...	ORPHA:1812
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Neonatal death, Pulmonary hypoplasia	OMIM:251230
Alg3-Cdg	Pulmonary hypoplasia	ORPHA:79321
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Epicanthus inversus, Upslanted palpebral fissure, Death in infancy	OMIM:614862
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema, Emphysema	OMIM:618307
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Narrow palpebral fissure, Tachypnea	ORPHA:3426
Trisomy 1Q	Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Anal atresia, Narrow mouth, Cryptorchidis...	ORPHA:261344
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Abnormal lung lobation,...	ORPHA:141127
Synaptic Congenital Myasthenic Syndromes	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ...	ORPHA:98915
Achondroplasia	Pulmonary hypoplasia, Upper airway obstruction, Respiratory distress, Death in infancy	OMIM:100800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Downslanted palpebral fissures, Bilateral ptosis, Epicanthus, Pterygium, Pulmonary...	OMIM:265000
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