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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 (1163 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		Probst bundles, Unilateral cryptorchidism, Long philtrum, Agenesis of corpus callosum, Thin corpu...	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	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
X-Linked Neurodegenerative Syndrome, Bertini Type	Recurrent bronchopulmonary infections, Agenesis of corpus callosum, Death in infancy	ORPHA:85334
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cleft palate, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesis of c...	OMIM:616570
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough	ORPHA:64741
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:611603
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Thick vermilion border...	OMIM:617090
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Waardenburg Syndrome Type 3	Telecanthus, Tracheomalacia, Atelectasis, Blepharophimosis, Acrocyanosis, Downslanted palpebral f...	ORPHA:896
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum...	ORPHA:85179
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter...	OMIM:619302
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Epicanthus, Cyanosis, Apnea, Neonatal respiratory distress, Ast...	ORPHA:2257
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Everted lower lip vermilion, Inf...	OMIM:618959
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ...	OMIM:619301
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Long philtrum, Agenesis of corpus callosum, Thin corpu...	OMIM:618286
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High...	OMIM:304100
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Bilateral ptosis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Recurrent respiratory infections, Periventricular leukomalacia, Agenesis of c...	OMIM:618324
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H...	OMIM:613153
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Lissencephaly, X-Linked, 1	Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Lobulated tongue, Molar toot...	OMIM:617127
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro...	OMIM:619611
Idiopathic Acute Eosinophilic Pneumonia	Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila...	ORPHA:724
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Epilepsy, Progressive Myoclonic, 9	Microglossia, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Congenital Pulmonary Airway Malformation	Respiratory insufficiency, Abnormal pleura morphology	ORPHA:2444
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Triangular mouth, A...	ORPHA:166024
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood	OMIM:613163
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ...	OMIM:620233
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary...	ORPHA:36238
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro...	OMIM:615095
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Ptosis	OMIM:255320
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Recurrent respiratory infections, Microcephaly, Abnormal globus pallidus morphology, Cleft palate...	OMIM:618603
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism, Simplified gyral pattern, Primary microcephaly, Open mouth, Agenesis of corpus ca...	OMIM:616681
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Mismatch Repair Cancer Syndrome 4	Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer	OMIM:619101
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormality of the dentition, Mild malformation of cortical development, Dysplastic corpus callos...	ORPHA:500166
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Thin upper lip vermilion, Microcephaly, Partial agenesis of the corpus callos...	OMIM:616212
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre...	ORPHA:254875
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar gliosis, Cere...	ORPHA:79243
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Perisylvian...	OMIM:600118
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
3Q13 Microdeletion Syndrome	Cryptorchidism, Agenesis of corpus callosum, Long philtrum	ORPHA:1621
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia, Ptosis	OMIM:617468
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Gliosis...	ORPHA:168486
Usmani-Riazuddin Syndrome, Autosomal Recessive	High palate, Agenesis of corpus callosum	OMIM:619548
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V...	OMIM:614120
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum...	OMIM:616171
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap...	ORPHA:199241
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Cryptorchidism, Thin vermilion border, Narrow mouth, Parietal cortical atrophy, Fro...	OMIM:618766
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of...	OMIM:616342
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypo...	ORPHA:255138
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira...	OMIM:178550
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:256050
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ...	OMIM:617542
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Spinocerebellar Ataxia 23	Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Microcephaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of ...	ORPHA:2512
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu...	OMIM:619517
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Dyspnea, Respiratory failure,...	ORPHA:2759
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne...	ORPHA:370959
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Carious te...	OMIM:214150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebel...	OMIM:225790
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, High palate, Gliosis, Lissencephaly, Long philtrum, Long upper lip, Pac...	OMIM:300215
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Agnathia-Otocephaly Complex	Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Pterygium, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:224410
Pontocerebellar Hypoplasia, Type 11	Recurrent respiratory infections, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hy...	OMIM:617695
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia...	OMIM:244400
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Molar too...	OMIM:614815
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Achondrogenesis Type 2	Pulmonary hypoplasia, Cardiorespiratory arrest	ORPHA:93296
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Hydr...	OMIM:620156
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Ptosis	OMIM:618637
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Glycine Encephalopathy 1	Death in infancy, Agenesis of corpus callosum	OMIM:605899
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Exaggerated cupid's bow, Cryptorchidism, Dysgenesis of the basal ganglia, High palate, Cerebellar...	OMIM:620316
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Downslante...	OMIM:611890
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Cleft palate, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:164180
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cleft palate, Short philtr...	OMIM:619074
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Long philtrum...	OMIM:618577
Thanatophoric Dysplasia	Downslanted palpebral fissures, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:2655
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Holoprosencephaly 11	Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Lissencephaly, Secondary microcephaly, Lon...	OMIM:614583
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Narrow palpebral fissure, Stillbirth, Pulmonary hypoplasia	OMIM:236500
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, High palate, Short philtrum, Agenesis of corpus callosu...	OMIM:615433
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Telecanthus, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border, Short philtrum,...	ORPHA:238750
Fetal Akinesia Deformation Sequence	Pterygium, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:994
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Epicanthus, Cyanosis, Upslanted palpebral...	ORPHA:3309
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi...	OMIM:606763
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Familial Spontaneous Pneumothorax	Pneumothorax, Abnormal pleura morphology	ORPHA:2903
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat...	ORPHA:3392
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis	OMIM:300580
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
6Q25 Microdeletion Syndrome	Microcephaly, Cleft palate, High palate, Long philtrum, Agenesis of corpus callosum, Ventriculome...	ORPHA:251056
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue	ORPHA:314652
Marden-Walker Syndrome	Microcephaly, High, narrow palate, Cryptorchidism, Pyloric stenosis, Cleft palate, Hypoplasia of ...	OMIM:248700
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Abnormal lung lobation, Pulmonary hypoplasia, Telecanthus	OMIM:263210
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Pyloric stenosis, Chiari type I malformation, Hypoplasia of the co...	OMIM:218350
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Postsynaptic Congenital Myasthenic Syndromes	Ptosis, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Respiratory ...	ORPHA:98913
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:184260
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Dyspnea, Abnormal pulmonary interstitial morphology, Diffuse re...	OMIM:607616
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Cryp...	OMIM:619244
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Lymphangioleiomyomatosis	Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Dyspnea, Pneumothorax, Pulmonar...	ORPHA:538
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg...	OMIM:615286
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Ventriculomegaly, Tented upper lip vermilion, Exaggerated cupid's bow, Cerebellar vermis hypoplas...	OMIM:619720
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Fg Syndrome 3	Chiari type I malformation, Death in infancy, Agenesis of corpus callosum	OMIM:300406
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Thick lower lip vermilion, Primary microcephaly, Agen...	ORPHA:466688
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplas...	ORPHA:89844
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Basal ganglia cysts, Long philtrum, Agenesis of corpus callosum, ...	OMIM:312170
Tonne-Kalscheuer Syndrome	Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:300978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Cleft upper lip, Microcephaly, Hydrocephalus, Partial absen...	OMIM:613150
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Thin upper lip vermilion, Microcephaly, Wide mouth, Agenesis of corpus callosum, Smooth philtrum	OMIM:619989
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpus callosum, Alveolar ridge...	OMIM:618346
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:1548
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum, Abnormality of the dentition	ORPHA:2101
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Craniosynostosis 3	Partial agenesis of the corpus callosum, Dental malocclusion	OMIM:615314
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Respiratory tract infection, Diffuse white matter abnormalities, High palate, Agenesis of corpus ...	OMIM:218000
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Open ...	OMIM:616362
Diaphanospondylodysostosis	Respiratory distress, Epicanthus, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia	OMIM:608022
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia	OMIM:241800
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Multiple Pterygium Syndrome, X-Linked	Epicanthus, Pulmonary hypoplasia, Multiple pterygia	OMIM:312150
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Chiari type I malformation, Hypoplasia of the corpus callosum, Narrow m...	OMIM:613735
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp...	ORPHA:79128
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Vici Syndrome	Recurrent respiratory infections, Hypoplasia of the pons, High palate, Cerebellar hypoplasia, Age...	ORPHA:1493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:1046
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ...	OMIM:616037
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Aspiratio...	ORPHA:314655
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Conical tooth, Abnormality of the dentition, Crypto...	ORPHA:228390
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Palpebral edema, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Colpocephaly, Microdontia, Agenesis of corpus callosum	OMIM:619955
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Intrauterine growth...	ORPHA:521308
Congenital Myopathy 17	Telecanthus, Respiratory tract infection, Respiratory insufficiency, Pulmonary hypoplasia, Downsl...	OMIM:618975
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip	OMIM:614402
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Tented upper lip vermilion, Exaggerated cupid's bow, Cerebellar vermis hypoplasia, Dysplastic cor...	OMIM:616900
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, High palate, Microcephaly	OMIM:245349
Emanuel Syndrome	Dental crowding, High palate, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker malformation...	ORPHA:96170
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Cryptorchidism, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:3035
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Neonatal respiratory distress, Multiple pterygia, Abnormal eyelid morpho...	ORPHA:2990
Microphthalmia, Syndromic 9	Blepharophimosis, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insuff...	OMIM:601186
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Lissencephaly, Agene...	ORPHA:99742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula...	OMIM:614742
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop...	ORPHA:96179
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Intrauterine growth retardati...	OMIM:616258
Multiple Pterygium Syndrome, Lethal Type	Epicanthus, Pulmonary hypoplasia, Multiple pterygia	OMIM:253290
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis...	ORPHA:210136
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis...	OMIM:207950
Primary Effusion Lymphoma	Dyspnea, Pleural effusion	ORPHA:48686
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cryptorchid...	ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Long philtrum	OMIM:300887
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:1865
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Pulmonary hypoplasia, Downs...	OMIM:145420
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:250999
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Hamartoma of tongue, Partial agenesis of the corpus callosum, Macro...	OMIM:619775
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Triangular mouth, Agenesis of corpus callosum, Hypoplasia of the corpus ...	OMIM:607131
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea...	OMIM:619602
Kagami-Ogata Syndrome	Blepharophimosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Short palpebral fissure	OMIM:608149
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin...	ORPHA:980
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary cent...	OMIM:136760
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Highly arched eyebrow, Synophrys, Pulmonary hypoplasia, Pulmona...	OMIM:618316
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Aspergillosis	Sinusitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dacryocystitis, C...	ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Even-Plus Syndrome	Dysplastic corpus callosum, High palate, Hypodontia, Agenesis of corpus callosum, Anal atresia	OMIM:616854
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm...	ORPHA:2038
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Dyspnea, Upslanted palpebral fissu...	ORPHA:2707
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs	ORPHA:2204
1Q44 Microdeletion Syndrome	Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Microcephaly, Hydrocephalus, T...	ORPHA:238769
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned...	OMIM:619320
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac...	ORPHA:141083
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Pulmonary hypoplasia, Telecanthus	OMIM:616897
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ...	ORPHA:220497
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Epicanthus	OMIM:614741
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypo...	ORPHA:1827
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis, Ptosis	OMIM:615636
Short-Rib Thoracic Dysplasia 12	Epicanthus, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death	OMIM:269860
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Hydrolethalus	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly...	ORPHA:2189
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl...	OMIM:613177
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Maternal Uniparental Disomy Of Chromosome X	Thin vermilion border, Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, High palate, Lissencephaly, Hypoplasia of the corpus callosum, Intrauterine growth ...	OMIM:618142
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Narrow mouth, Aplasia/Hypoplasia of the cerebellum, Microglossia, Agenesis of ...	ORPHA:990
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, High palate, Thick vermilion border, Hypop...	OMIM:620113
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Narrow palate, Wide mouth, Mild fetal ventriculomegaly, High palate, Thick vermil...	OMIM:619435
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:616866
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Abnormality of the dentition, Microcephal...	OMIM:615802
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Orofacial cleft, Ap...	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissen...	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Da...	OMIM:236670
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Agenesis of corpus callosum, Short philtrum	ORPHA:93267
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Microcephaly, Recurrent pneumonia, Cleft palate, Furrowed tongue, Cer...	OMIM:616449
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth...	ORPHA:420741
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Protruding tongue, Microcephaly, Thick vermilion border, Pleural effusi...	ORPHA:1446
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Microcephaly, Cryptorchidism, Orofacial cleft, Wide mo...	OMIM:243310
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO...	OMIM:233450
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura	OMIM:608013
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Braddock-Carey Syndrome 1	Microcephaly, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Thick vermilion border...	OMIM:619980
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:616239
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen...	OMIM:618779
Temtamy Syndrome	Dental crowding, Thick corpus callosum, Hypoplasia of teeth, Long philtrum, Agenesis of corpus ca...	OMIM:218340
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Microc...	OMIM:619148
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Ptosis	OMIM:256000
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum, Tracheoesophageal fistula	OMIM:619083
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis	OMIM:613561
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Probst bundles, High, narrow palate, Hydrocephalus, Submucous cleft har...	OMIM:612863
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ...	ORPHA:98905
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencep...	OMIM:613001
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon...	OMIM:620352
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Megarectum, Global brain atrophy, Hypodonti...	OMIM:301056
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Cleft palate, Widely spaced teeth, Agenesis of corpu...	ORPHA:459061
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:474
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Respiratory insufficiency, Respiratory failure, Neonatal death, Ptosis	OMIM:618186
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Hyperekplexia 4	Respiratory failure	OMIM:618011
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator...	ORPHA:1199
Desmosterolosis	Intestinal malrotation, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydro...	ORPHA:35107
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Cerebral calcification, Hydrocephalus, Chiari type I malformation, Ce...	OMIM:618476
Melioidosis	Lung abscess, Pneumonia, Respiratory tract infection, Acute infectious pneumonia, Abnormal paroti...	ORPHA:31202
Succinic Acidemia	Respiratory distress	OMIM:600335
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis	OMIM:619879
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Fryns Syndrome	Ventriculomegaly, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal...	ORPHA:2059
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Ptosis	OMIM:614669
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ...	ORPHA:220493
Weiss-Kruszka Syndrome	Ventriculomegaly, Exaggerated cupid's bow, Colpocephaly, Hypoplasia of the corpus callosum, Agene...	OMIM:618619
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Microcephaly, Supernumerary tooth, Abnormal pituitar...	ORPHA:314621
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Tented upper lip vermilion, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosu...	OMIM:620001
Microcephaly-Micromelia Syndrome	Neonatal death, Pulmonary hypoplasia, Short palpebral fissure	OMIM:251230
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Ptosis	ORPHA:352447
Orofaciodigital Syndrome V	Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Aganglionic megacol...	OMIM:174300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow mouth, Partial agenesis of the corpus callosum, Narrow palate, Hypoplasia of teeth, Wide m...	OMIM:620250
Relapsing Polychondritis	Atelectasis, Dyspnea, Erythema, Conjunctivitis, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Thin upper lip vermilion, Periventricular leukomalacia, Short lingual ...	OMIM:617360
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Cryptorchidism, High palate, Inferior cerebellar vermis hypoplasia, Agenesis of cor...	ORPHA:139471
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Upslanted palpebral fissure, Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:612530
Double Outlet Right Ventricle	Pulmonary artery atresia, Narrow palpebral fissure, Cyanosis, Tachypnea	ORPHA:3426
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperintensity of cerebral white matter on MRI, Hypoplasia of the brainstem, Thin vermilion borde...	ORPHA:481152
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Supernumerary nipple, Aplasia/Hypoplasia of the cerebellum, Cr...	ORPHA:1812
Alg3-Cdg	Pulmonary hypoplasia	ORPHA:79321
Trisomy 1Q	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Cerebellar hypoplasia, Narrow mout...	ORPHA:261344
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Anterior pituitary hypoplasia, Absent septum pellucidum, Optic nerve hypop...	ORPHA:3157
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Neonatal respiratory distress, Bilateral ptosis, Neck pterygia, Antecubital pterygium...	OMIM:265000
Toriello-Carey Syndrome	Ventriculomegaly, Aganglionic megacolon, Microcephaly, Cryptorchidism, Partial agenesis of the co...	ORPHA:3338
Peroxisome Biogenesis Disorder 4A (Zellweger)	Upslanted palpebral fissure, Death in infancy, Epicanthus inversus, Respiratory failure	OMIM:614862
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High ...	OMIM:618929
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Absent septum pellucidum, Alobar holopros...	OMIM:619895
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo...	OMIM:609053
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Megalencephaly, Li...	OMIM:601707
Al Amyloidosis	Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution co...	ORPHA:85443
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Thick lower lip vermilion, Orofacial cleft, Cleft palate, Short upp...	ORPHA:1692
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Upslanted palpeb...	OMIM:619383
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio...	OMIM:182230
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Zygomycosis	Sinusitis, Epistaxis, Rhinorrhea, Atelectasis, Pneumothorax, Chemosis, Acute infectious pneumonia...	ORPHA:73263
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Bilateral ptosis, Respirato...	ORPHA:98915
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Acrocephalopolydactylous Dysplasia	Upslanted palpebral fissure, Epicanthus, Pulmonary hypoplasia, Extrapulmonary sequestrum	OMIM:200995
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Blepharophimosis	ORPHA:2570
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Agenesis of corpus callosum	OMIM:147950
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Neonatal respiratory distress, Upslanted palpebral fissure, Death in childhood, Pulmo...	OMIM:214100
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Cleft upper lip, Microcephal...	ORPHA:261236
Nizon-Isidor Syndrome	Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert...	OMIM:618872
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains...	OMIM:253800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Pulmonary hypoplasia, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Synophrys, Pulmonary hypoplasia, Pleural effusion, Downslanted palpebral fi...	OMIM:620369
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure, Ptosis	ORPHA:679
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus...	ORPHA:314679
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, High palate, Long philtrum, Intrauterine growth retardation, Agenesi...	OMIM:612940
Czeizel-Losonci Syndrome	Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Cleft upper lip, Hydrocephalus, High palate, Narrow ...	OMIM:612582
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Death in childhood, Respiratory failure, Tachypnea, Ptosis	OMIM:615838
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Nasa...	ORPHA:183
Tarp Syndrome	Cyanosis, Apnea, Pulmonary hypoplasia, Short palpebral fissure, Thick eyebrow	ORPHA:2886
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Immunodeficiency 49	Natal tooth, Reduced cerebral white matter volume, Pulmonary artery stenosis, Short philtrum, Age...	OMIM:617237
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Panhypopituitarism, Orofacial cleft, Cleft palate, Shor...	ORPHA:280200
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hypodysplasia of the corpus callosum, Microcephaly, Cryptorchidism, Hydrocephal...	OMIM:257300
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Abnormal lung lobation, Respiratory insufficiency, Anomalous pulmonary venous r...	ORPHA:1120
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Microcepha...	OMIM:605039
Renal Agenesis, Bilateral	Epicanthus, Pulmonary hypoplasia	ORPHA:1848
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Apert Syndrome	Delayed eruption of teeth, Absent septum pellucidum, Esophageal atresia, Hydrocephalus, Narrow pa...	ORPHA:87
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tong...	OMIM:311200
Halperin-Birk Syndrome	Colpocephaly, High palate, Thick vermilion border, Intrauterine growth retardation, Agenesis of c...	OMIM:618651
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Respiratory failure, Sparse medial...	OMIM:618804
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Emphysema...	ORPHA:31204
Acro-Renal-Mandibular Syndrome	Downslanted palpebral fissures, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Cryptorchidism, High palate, Broad alveolar ridges, Agenesis of corpus callosum	OMIM:300004
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon...	OMIM:601559
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas...	ORPHA:252183
Opitz Gbbb Syndrome	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Cleft upper lip, Rectourethral fistula, C...	OMIM:300000
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Microcephaly, Macroglossia, Everted lower lip vermilion, Agenesis of ...	ORPHA:261144
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi...	OMIM:243605
Atelosteogenesis Type I	Telecanthus, Pulmonary hypoplasia	ORPHA:1190
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo...	OMIM:620025
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar...	OMIM:208500
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Pore...	OMIM:277170
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Protruding tongue, Microcephaly, Cryptorchidism, Downturned corners of ...	ORPHA:96147
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:616300
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Genitopatellar Syndrome	Apnea, Pulmonary hypoplasia	ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 22	Thin upper lip vermilion, Microcephaly, Short philtrum, Intrauterine growth retardation, Agenesis...	OMIM:612337
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Desmosterolosis	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth, ...	OMIM:602398
Malaria	Respiratory distress	ORPHA:673
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, C...	OMIM:264480
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, Anteriorly placed anus, Chiari ma...	OMIM:123790
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, narrow palate, Recurrent...	ORPHA:464738
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Hypopituitarism, Optic nerve hypoplasia, Cleft ...	OMIM:603671
Kleefstra Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera...	ORPHA:261494
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Igg4-Related Submandibular Gland Disease	Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,...	ORPHA:449432
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Absent septum pellucidum, Focal polymicrogyri...	OMIM:612651
Lethal Congenital Contracture Syndrome 10	Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:617022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide mouth, Everted lower li...	ORPHA:96092
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Microcephaly, Thick lower lip vermilion, C...	OMIM:614609
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return	ORPHA:860
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Bifid uvula, High palate, Agenesis of corpus callo...	OMIM:300472
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Mic...	ORPHA:2745
Chromosome 5P13 Duplication Syndrome	Downturned corners of mouth, High palate, Agenesis of corpus callosum, Short philtrum	OMIM:613174
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Recurrent bronch...	OMIM:617303
Lethal Congenital Contracture Syndrome 9	Antecubital pterygium, Axillary pterygium, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:616503
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p...	ORPHA:1329
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dil...	OMIM:617296
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Microcephaly, High, narrow palate, Wide mouth, High pa...	OMIM:619312
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Holoprosencephaly, ...	ORPHA:77298
Distal Triplication 15Q	Telecanthus, Pulmonary hypoplasia	ORPHA:314588
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Chand Syndrome	Atelectasis, Ankyloblepharon	ORPHA:1401
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Cryptorchidism, Secondary microcephaly, Hypoplasia of the corpus ca...	OMIM:620073
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu...	OMIM:220110
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Microcephaly, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Downtu...	OMIM:217980
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sparse eye...	OMIM:614748
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Microcephaly...	ORPHA:363528
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba...	OMIM:610828
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Entropion, Abnormal pleura morphology, Er...	ORPHA:537
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Microcephaly, Deep philt...	OMIM:617260
Intellectual Developmental Disorder, Autosomal Recessive 65	Supernumerary nipple, Cryptorchidism, Partial agenesis of the corpus callosum, Thin vermilion bor...	OMIM:618109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio...	ORPHA:228308
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Cerebral calcificatio...	OMIM:617281
Atelosteogenesis Type Ii	Tracheobronchomalacia, Epicanthus, Pulmonary hypoplasia, Telecanthus	ORPHA:56304
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Curry-Jones Syndrome	Agenesis of corpus callosum, Intestinal malrotation, Ventriculomegaly	ORPHA:1553
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal...	ORPHA:1780
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, ...	OMIM:249000
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary...	OMIM:619351
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Abnormal dentate nucleus morphology, Exaggerated cupid's bow, Microcephaly, Aqueductal stenosis, ...	OMIM:619512
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Holoprosencephaly, Solitary median maxillary central incisor, In...	ORPHA:556955
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary...	ORPHA:3342
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency, Ptosis	OMIM:617239
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Sarcoidosis, Susceptibility To, 1	Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstitial morphology, ...	OMIM:181000
Raine Syndrome	Death in infancy, Highly arched eyebrow, Pulmonary hypoplasia, Neonatal death, Downslanted palpeb...	OMIM:259775
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Downslanted palpebral fissures, Telangiectasia	OMIM:608799
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Upslante...	ORPHA:496641
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure	ORPHA:363400
Thanatophoric Dysplasia Type 2	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:93274
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Agenesis of corpus callosum, Prominent ...	OMIM:200990
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Breath-Holding Spells	Cyanosis	OMIM:607578
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Cerebellar vermis hypoplasia, Intestinal malrotati...	OMIM:620305
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Long eyelashes, Short palpebral fissure, Pulmonary ...	ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2671
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Abnormal eyelid morphology, Erythem...	ORPHA:221
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Deep philtrum, High palate, Short philtrum, Macroorchi...	OMIM:309520
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Fumarase Deficiency	Necrotizing enterocolitis, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, High pala...	OMIM:606812
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Achondrogenesis	Aplasia/Hypoplasia of the lungs	ORPHA:932
Apert Syndrome	Delayed eruption of teeth, Absent septum pellucidum, Megalencephaly, Cryptorchidism, Hydrocephalu...	OMIM:101200
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microc...	OMIM:301043
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate, Hypoplasia of the corpus callosum,...	OMIM:614924
15Q Overgrowth Syndrome	Dental crowding, High, narrow palate, Hydrocephalus, High palate, Intrauterine growth retardation...	ORPHA:314585
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
22Q11.2 Deletion Syndrome	Telecanthus, Epicanthus, Purpura, Abnormal eyelid morphology, Atelectasis, Asthma, Chronic pulmon...	ORPHA:567
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstructi...	ORPHA:125
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs	ORPHA:1263
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Agenesis of corpus callosum, Cleft palate	ORPHA:52055
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Aplastic/hypo...	OMIM:612289
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Respiratory distress	OMIM:606164
Restrictive Dermopathy 1	Prominent superficial blood vessels, Entropion, Sparse eyelashes, Absent eyelashes, Sparse eyebro...	OMIM:275210
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ...	ORPHA:506
Bohring-Opitz Syndrome	Recurrent respiratory infections, Ventriculomegaly, Microcephaly, Cleft lip, Cleft palate, Hypopl...	ORPHA:97297
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Cleft upper lip, Hiatus hernia, Pachygyria, Partial a...	OMIM:304050
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Ogden Syndrome	Epicanthus, Prematurely aged appearance, Apnea, Facial wrinkling, Abnormal eyelid morphology, Spa...	OMIM:300855
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi...	ORPHA:563612
1Q21.1 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, High palate, Long philt...	ORPHA:250989
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa...	OMIM:616482
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Long eyelashes, Apnea, Ptosis	OMIM:617301
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, High palate,...	OMIM:618500
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr...	OMIM:602535
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary g...	ORPHA:2298
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Agenesi...	OMIM:613091
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Pulmonary hypoplasia	OMIM:614080
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Recurrent uppe...	ORPHA:1465
Alg1-Cdg	Respiratory failure	ORPHA:79327
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs	ORPHA:93298
Oligomeganephronia	Optic disc coloboma, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S...	OMIM:615948
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Vici Syndrome	Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cerebellar vermi...	OMIM:242840
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs	ORPHA:2635
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala...	ORPHA:64744
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism,...	ORPHA:434179
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Absence of Stensen duct, Decreased response to growth hormone s...	OMIM:129900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Cryptorchidism, Cleft palate, Macrogyria, Colpocephaly, High palate, Hypoplas...	OMIM:614866
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Epicanthus, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs	ORPHA:93299
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Abnormal eyelid morphology,...	ORPHA:647
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Trisomy 8P	Microcephaly, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnorm...	ORPHA:264450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure	ORPHA:26791
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Microcephaly, Bilateral cryptorchidism,...	OMIM:613457
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Marden-Walker Syndrome	Abnormal cerebellar vermis morphology, Absent septum pellucidum, Microcephaly, Pyloric stenosis, ...	ORPHA:2461
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs	ORPHA:2145
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Optic disc coloboma, Respiratory insufficiency, Restrictive ventilatory de...	ORPHA:536471
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali...	ORPHA:79078
Holoprosencephaly 9	Abnormal cortical gyration, Anterior pituitary hypoplasia, Decreased response to growth hormone s...	OMIM:610829
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Telecanthus	OMIM:617102
Sotos Syndrome	High, narrow palate, Partial agenesis of the corpus callosum, Cryptorchidism, Narrow palate, High...	OMIM:117550
Alg9-Cdg	Telecanthus, Asthma, Abnormal lung lobation, Pulmonary hypoplasia, Shallow orbits	ORPHA:79328
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Narrow palate, Basal ganglia cysts, H...	OMIM:608836
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Abnormality of the dentition, Microcephaly, Dysplastic corpus call...	OMIM:151050
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Shallow orbits, Death in childhood, Chronic lung disease	OMIM:613848
21Q22.11Q22.12 Microdeletion Syndrome	Thin upper lip vermilion, Dental crowding, Microcephaly, Thick lower lip vermilion, Downturned co...	ORPHA:261323
Right Atrial Isomerism	Pulmonary artery atresia, Agenesis of corpus callosum, Abnormal lung lobation, Total anomalous pu...	OMIM:208530
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic corpus callosu...	OMIM:618820
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Keratoconjunctivitis	ORPHA:79242
Trichothiodystrophy	Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Carious teeth, Recurrent bro...	ORPHA:33364
Muir-Torre Syndrome	Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Fetal Akinesia Deformation Sequence 1	Telecanthus, Stillbirth, Pulmonary hypoplasia, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:208150
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed er...	OMIM:300952
Moebius Syndrome	Respiratory distress, Congenital fibrosis of extraocular muscles, Epicanthus	OMIM:157900
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Histiocytoid Cardiomyopathy	Hydrocephalus, Cleft palate, Polycystic ovaries, Cerebellar malformation, Agenesis of corpus call...	ORPHA:137675
Thanatophoric Dysplasia Type 1	Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Respiratory insufficiency	ORPHA:1860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Epicanthus, Pulmonary hypoplasia, Blepharophimosis, Downslanted palpebral f...	ORPHA:83617
Good Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Cough, Ptosis	ORPHA:169105
Sarcoidosis	Abnormal pleura morphology, Abnormal lung morphology, Pneumothorax, Enlarged lacrimal glands, Bro...	ORPHA:797
Blomstrand Lethal Chondrodysplasia	Telecanthus, Pulmonary hypoplasia	ORPHA:50945
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Pleural effusion, Abnormal pulmonary interstitial morphology, Oral ...	ORPHA:50918
Isolated Atp Synthase Deficiency	Respiratory distress, Ptosis	ORPHA:254913
Fryns Syndrome	Dandy-Walker malformation, Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic meg...	OMIM:229850
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure	ORPHA:438216
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Partial agenesis of the corp...	ORPHA:50
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the dentition, Microcephaly, Cr...	ORPHA:847
Lethal Acantholytic Erosive Disorder	Absent eyelashes, Absent eyebrow, Respiratory failure, Fragile skin	ORPHA:158687
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Upsla...	ORPHA:534
Otopalatodigital Syndrome Type 2	Downslanted palpebral fissures, Pulmonary hypoplasia	ORPHA:90652
Interstitial Lung And Liver Disease	Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res...	OMIM:615486
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Cryptorchidism, Partial ...	OMIM:305450
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Downslanted palpebral...	OMIM:610536
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormality of the philtrum, Cleft upper lip, Microcephaly, Cry...	ORPHA:280
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Multiple pulmonary cysts, Microcephaly, High palate, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:619418
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Hypoplasia of t...	OMIM:234050
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Erythema, Pulmonary hypoplasia	OMIM:308050
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Jacobsen Syndrome	Recurrent respiratory infections, Ventriculomegaly, Intestinal malrotation, Spina bifida, Cryptor...	ORPHA:2308
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Intestinal malrotation, Apl...	OMIM:222448
Igg4-Related Ophthalmic Disease	Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged lacrimal glan...	ORPHA:449563
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp...	OMIM:309801
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:3429
Acrorenal-Mandibular Syndrome	Epicanthus, Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:200980
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Unilateral ptosis, Cyanosis, Downslanted palpebral fissures	ORPHA:3304
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom...	ORPHA:805
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Smith-Lemli-Opitz Syndrome	Epicanthus, Cutis marmorata, Abnormal eyelash morphology, Abnormal lung lobation, Upslanted palpe...	ORPHA:818
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis	ORPHA:36234
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis	ORPHA:533
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu...	ORPHA:731
Hydrolethalus Syndrome 1	Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Abnormal lun...	OMIM:236680
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Dysplastic corpus callosum, Secondary microcephaly, Death in childhood	OMIM:619423
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Stridor, Long ey...	ORPHA:505248
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, High palate, Agenesis...	ORPHA:58
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Death in childhood	OMIM:604273
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Cerebellar gliosis, Periventricular cysts, Increased caudate lacta...	ORPHA:3008
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect...	OMIM:123700
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Swollen lip, Cleft upper lip, Cryptorchidism, Thick lower lip ver...	OMIM:256520
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Alobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha...	ORPHA:220386
Birk-Landau-Perez Syndrome	Intrauterine growth retardation, Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus...	ORPHA:781
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Prominent superficial veins, Dyspnea, Lower eyelid edema, Palmo...	ORPHA:363705
Hartsfield Syndrome	Median cleft lip, Alobar holoprosencephaly, Cleft upper lip, Cryptorchidism, Microcephaly, Gonado...	OMIM:615465
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Absent septum pellucidum, Supernumerary nipple, Cryptorchidism, Deep ph...	OMIM:613884
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp...	ORPHA:352665
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Respir...	OMIM:252010
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Retinal coloboma, Pulmonary hypoplasia	OMIM:616546
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula, Orofacial cleft	ORPHA:268249
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Short palpebral fissure	OMIM:300968
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Pagod Syndrome	Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp...	ORPHA:991
Xp21 Deletion Syndrome	Everted lower lip vermilion, Agenesis of corpus callosum	ORPHA:261476
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonar...	ORPHA:228116
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Greenberg Dysplasia	Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:215140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Cocaine Intoxication	Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach...	ORPHA:90068
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Abnormal lung...	OMIM:270400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Long eyebrows	OMIM:614407
Mosaic Trisomy 16	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:1708
Japanese Encephalitis	Respiratory distress, Irregular respiration, Respiratory paralysis, Eyelid fasciculation, Abnorma...	ORPHA:79139
Gabriele-De Vries Syndrome	Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor...	ORPHA:506358
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:2063
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Partial age...	OMIM:300373
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Long eyelashes, Blepharophimosis, Emphysema, Short palpeb...	OMIM:224690
Digeorge Syndrome	Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis, Ble...	OMIM:188400
Primary Dystonia, Dyt4 Type	Blepharospasm, Respiratory distress	ORPHA:98805
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas...	OMIM:619179
Mosaic Trisomy 8	Cryptorchidism, Cleft palate, High palate, Agenesis of corpus callosum, Decreased testicular size	ORPHA:96061
Buerger Disease	Acrocyanosis	ORPHA:36258
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia, Thin eyebrow	OMIM:617063
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary...	ORPHA:3260
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Absent septum pellucidum, Hiatus hernia, Abnormal cortical gyration, Esop...	ORPHA:2538
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia	OMIM:617925
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Partial anomalous pulmonary venous ret...	OMIM:617478
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Cryptorchidism, Vo...	OMIM:267000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Craniofrontonasal Syndrome	Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Cleft palate, Agenesis of corpus c...	OMIM:304110
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Mgat2-Cdg	Downslanted palpebral fissures, Recurrent upper and lower respiratory tract infections, Long eyel...	ORPHA:79329
Oromandibular Dystonia	Blepharospasm, Respiratory distress	ORPHA:93958
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Vacterl With Hydrocephalus	Pulmonary hypoplasia	ORPHA:3412
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i...	OMIM:164310
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Epicanthus, Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory f...	ORPHA:96334
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Epicanthus	ORPHA:2519
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, Absent septum pellucidum, High, narrow palate, Hydrocephalus, ...	ORPHA:2658
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Deep philtrum, Thin lower lip ver...	OMIM:619194
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema	ORPHA:50810
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Myasthenia Gravis	Dyspnea, Acrocyanosis, Ptosis	ORPHA:589
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Distal Deletion 15Q	Upslanted palpebral fissure, Pulmonary hypoplasia, Blepharophimosis	ORPHA:1596
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Holoprosencephaly 2	Median cleft lip and palate, Alobar holoprosencephaly, Microcephaly, Submucous cleft hard palate,...	OMIM:157170
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Fraser Syndrome 1	Absent eyebrow, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, Malformed lacrima...	OMIM:219000
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Prune Belly Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:2970
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Dandy-Walker malformation, Ventriculomegaly, Cleft upper lip, Cryptorchidism, Esophageal atresia,...	ORPHA:93271
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Narrow palpebral fissure, Epicanthus, Respiratory failure	ORPHA:254528
Restrictive Dermopathy	Telecanthus, Entropion, Sparse eyebrow, Sparse or absent eyelashes, Pulmonary hypoplasia, Downsla...	ORPHA:1662
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Pyloric stenosis, Thin vermilion border, Elevated...	OMIM:618419
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum	OMIM:618810
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Limbal dermoid	ORPHA:1834
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Abnormal dental morphology, Decreased response to growth hormon...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Abnormal dental morphology, Decreased response to growth hormon...	ORPHA:363958
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se...	OMIM:604292
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Familial Dysautonomia	Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology	ORPHA:1764
Costello Syndrome	Epicanthus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia, Downsla...	OMIM:218040
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia, Shallow orbits	ORPHA:798
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, M...	OMIM:235730
Igg4-Related Kidney Disease	Abnormal lung morphology, Abnormality of the anterior pituitary, Interstitial pneumonitis, Sialad...	ORPHA:449395
Niemann-Pick Disease Type C	Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory...	ORPHA:646
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs	ORPHA:2549
Fraser Syndrome	Death in infancy, Abnormal lung lobation, Lacrimal duct aplasia, Malformed lacrimal duct, Pulmona...	ORPHA:2052
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins	OMIM:618021
Adnp Syndrome	Respiratory distress, Bilateral ptosis, Recurrent upper respiratory tract infections, Slanting of...	ORPHA:404448
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:263520
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Tetrasomy 9P	Epicanthus, Jaundice, Pulmonary hypoplasia, Pulmonary arterial hypertension, Downslanted palpebra...	ORPHA:3310
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Ptosis	ORPHA:17
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Cryptorchidism, Downturned corners of mouth, Agenesis of corpus ca...	ORPHA:264200
Fanconi Anemia, Complementation Group D2	Microcephaly, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Hypop...	OMIM:227646
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Malrotati...	OMIM:194190
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Thin upper lip vermilion, Septo-optic dysplasia, Cerebellar vermis h...	OMIM:619841
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Epicanthus	OMIM:618733
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the c...	ORPHA:508498
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Ectopic thyroid, Agenesis of corpus ...	ORPHA:42775
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Downslanted palpebral fissures, Ptosis	ORPHA:1555
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Esophageal a...	OMIM:206900
Holzgreve Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:2167
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Ramos-Arroyo Syndrome	Respiratory distress, Dacryocystitis, Nasolacrimal duct obstruction, Upslanted palpebral fissure,...	ORPHA:1051
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Hydrocepha...	ORPHA:3472
Prader-Willi Syndrome Due To Translocation	Almond-shaped palpebral fissure, Recurrent respiratory infections, Upslanted palpebral fissure, R...	ORPHA:177907
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Pneumonia...	ORPHA:95455
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return	OMIM:306955
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria, Cleft palate, Perineal fistula, Anteriorly...	OMIM:218600
Coffin-Siris Syndrome 1	Conical tooth, Partial agenesis of the corpus callosum, Short philtrum, High palate, Microdontia,...	OMIM:135900
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Aplasia/Hypoplasia of the cerebral white matte...	ORPHA:550
Leptospirosis	Respiratory distress, Jaundice, Pulmonary hemorrhage, Cough, Pleural effusion, Conjunctival hyper...	ORPHA:509
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo...	ORPHA:37042
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress...	OMIM:616268
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Natal tooth, Pneumonia, Cryptorchidi...	OMIM:264090
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Monosomy 9P	Abnormality of the dentition, Microcephaly, Cryptorchidism, Cleft palate, High palate, Narrow mou...	ORPHA:261112
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Campomelic Dysplasia	Respiratory distress, Epicanthus, Neonatal respiratory distress, Apnea, Tracheomalacia, Tracheobr...	OMIM:114290
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Chiari typ...	ORPHA:261537
Auriculocondylar Syndrome	Respiratory distress, Ptosis	ORPHA:137888
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Intestinal malrotation, Microcephaly	OMIM:605376
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus, Partial agenesis of the co...	OMIM:619480
Holoprosencephaly	Epicanthus, Highly arched eyebrow, Synophrys, Respiratory insufficiency, Aplasia/Hypoplasia of th...	ORPHA:2162
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Spina bifida, Microcephaly, Respiratory tract infectio...	OMIM:180849
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:2753
Chromosome 1P36 Deletion Syndrome, Distal	Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Abnorm...	OMIM:607872
Focal Dermal Hypoplasia	Delayed eruption of teeth, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Hiatus ...	OMIM:305600
Coccidioidomycosis	Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio...	ORPHA:228123
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Microcephaly, Anencephaly, High palate, Short philtrum, Agenesis o...	ORPHA:96176
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Rhiniti...	OMIM:305100
Biotinidase Deficiency	Respiratory distress, Conjunctivitis, Apnea, Hyperventilation	ORPHA:79241
Cardiac-Urogenital Syndrome	Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia	OMIM:618280
Blau Syndrome	Abnormal salivary gland morphology, Xerostomia	ORPHA:90340
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Agenesis of corpus callosum, Adenocarcinoma of the small intestine...	OMIM:276300
Osteogenesis Imperfecta	Neonatal respiratory distress, Bruising susceptibility, Pulmonary hypoplasia	ORPHA:666
Monosomy 22Q13.3	Cerebellar cortical atrophy, Agenesis of corpus callosum, Dental crowding, Dental malocclusion	ORPHA:48652
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Microcephaly, Cryptorchidism, Malrotation of small bowe...	OMIM:606170
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Cleft palate	ORPHA:306542
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Ptosis	OMIM:615273
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Anterior pi...	ORPHA:95494
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Aganglionic megacolon, Abnormal dental enamel morphology, Absen...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Cleft upper lip, Cryptorchidism, High, narrow palate, Cleft palate, Wide mo...	ORPHA:373
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Degcags Syndrome	Ventriculomegaly, Jejunal atresia, Pneumonia, Protruding tongue, Hiatus hernia, Pyloric stenosis,...	OMIM:619488
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Thin eyebrow, Aspiration, Flushing	ORPHA:2131
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal malrotation, Supernume...	OMIM:312870
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Unilateral lung agenesis, Sparse eyebrow, Respiratory failure, Emphysema, Downslanted...	ORPHA:500150
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnorm...	ORPHA:2556
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Chiari typ...	ORPHA:261552
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary...	ORPHA:97214
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Fraser Syndrome 2	Respiratory failure, Cryptophthalmos	OMIM:617666
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Widely spa...	ORPHA:2152
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Bilobate gallbladder, Clef...	OMIM:261540
Meacham Syndrome	Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo...	ORPHA:3097
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Abetalipoproteinemia	Keratoconjunctivitis sicca, Respiratory failure, Ptosis	ORPHA:14
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
8Q24.3 Microdeletion Syndrome	Respiratory distress, Epicanthus, Highly arched eyebrow, Abnormal lung lobation, Upslanted palpeb...	ORPHA:508488
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Upslanted palpebral fissure, Death in infancy, Respiratory failure	OMIM:300868
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormal corpus striatum morphology, Decreased response to...	ORPHA:3455
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:220111
Pitt-Hopkins Syndrome	Upslanted palpebral fissure, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Myhre Syndrome	Respiratory insufficiency, Narrow palpebral fissure, Respiratory failure, Blepharophimosis, Thick...	OMIM:139210
Isolated Arrhinia	Respiratory distress, Eyelid coloboma	ORPHA:1134
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Craniofacial Microsomia 1	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, Branchial anom...	OMIM:164210
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str...	ORPHA:48435
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces...	ORPHA:289548
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula, Agenesis of corpus callosum	OMIM:618748
Focal Dermal Hypoplasia	Telangiectasia of the skin, Erythema, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmona...	ORPHA:2092
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Nocturnal lagophthalmos, Loss of e...	ORPHA:740
1P36 Deletion Syndrome	Microcephaly, Pyloric stenosis, Cryptorchidism, Long philtrum, Abnormal intestine morphology, Nar...	ORPHA:1606
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Yunis-Varon Syndrome	Thin upper lip vermilion, Absent nipple, Cerebellar vermis hypoplasia, Premature loss of primary ...	OMIM:216340
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Vacterl/Vater Association	Aplasia/Hypoplasia of the lungs	ORPHA:887
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Pulmonary arterial hyperten...	ORPHA:79282
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Emphysema	ORPHA:289
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Osteoglophonic Dysplasia	Respiratory distress, Telecanthus, Downslanted palpebral fissures, Shallow orbits	OMIM:166250
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hyperventilation, Upslanted palpebral ...	OMIM:601803
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Downslanted palpebral fissures	ORPHA:2636
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Synophrys, Asthma, Nasal flaring, Long palpebral fissure	ORPHA:466943
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Plague	Acute infectious pneumonia, Conjunctival hyperemia, Respiratory distress	ORPHA:707
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Doors Syndrome	Respiratory distress, Bilateral ptosis, Epicanthus, Aspiration pneumonia	ORPHA:79500
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Telecanthus, Upslanted palpebral fissure, Recurrent upper and lower respira...	ORPHA:480880
Microphthalmia, Syndromic 1	Optic disc coloboma, Pulmonary hypoplasia, Chorioretinal coloboma, Ciliary body coloboma, Iris co...	OMIM:309800
Townes-Brocks Syndrome	Rectoperineal fistula, Cryptorchidism, Anteriorly placed anus, Wide mouth, Chiari malformation, R...	ORPHA:857
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Epicanthus, Downslanted palpebral fissures	OMIM:617088
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Downslanted palpebral fissures, Respiratory insufficiency	OMIM:304120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis	ORPHA:2255
Zttk Syndrome	Unilateral lung agenesis, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, ...	OMIM:617140
Aicardi-Goutières Syndrome	Cutis marmorata, Eyelid coloboma, Prolonged neonatal jaundice, Acrocyanosis, Ptosis	ORPHA:51
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Classical Ehlers-Danlos Syndrome	Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Blepharochalasis, E...	ORPHA:287
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Telecanthus, Recurrent pneumonia, Downslanted palpebral fissures	ORPHA:99646
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Apnea, Keratoconjunctivitis sicca, Acrocyanosis, Ptosis	ORPHA:285
Coffin-Lowry Syndrome	Telecanthus, Cutis marmorata, Highly arched eyebrow, Acrocyanosis, Downslanted palpebral fissures...	OMIM:303600
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Gitelman Syndrome	Respiratory distress	ORPHA:358
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Pmm2-Cdg	Respiratory distress, Epicanthus, Abnormal subcutaneous fat tissue distribution, Upslanted palpeb...	ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Recurrent upper respiratory tract infections, Recurr...	ORPHA:64

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 Nfib

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 Nfib.

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

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MGI Allele	Allele Type	Produced
Nfib^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nfib^{tm26(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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