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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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
Downslanted palpebral fissures, Blepharophimosis, Sparse eyebrow OMIM:618286

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar h... OMIM:604213
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Polym... ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Drooling, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Fronto... OMIM:610031
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of... OMIM:611603
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, Micr... OMIM:608716
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... ORPHA:79126
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Simplified gyral... OMIM:614019
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomega... ORPHA:85179
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Microcephaly 17, Primary, Autosomal Recessive
Thick vermilion border, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Mic... OMIM:617090
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Parenchymal co... ORPHA:2902
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive v... OMIM:610978
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Airway obstruction, Hypoxemia, Reduce... ORPHA:1303
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Everted lower lip vermilion, Pro... OMIM:618959
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:1302
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Reduced subcutaneous adipose tissue, Atelec... OMIM:268500
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401820
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Exertional dyspnea, Bilateral ptosis, Pulmonary fibrosis ORPHA:254361
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:619003
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Sub-Cortical Nodular Heterotopia
Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal cerebral cortex morpholog... ORPHA:101029
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... OMIM:619302
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Hypoplasi... OMIM:617669
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Microdontia, Widely spaced teeth, Intrauterine growth re... OMIM:233810
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Hypoplasia of the corpu... ORPHA:262767
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Lissencephaly, Pachygyria, Death in infancy OMIM:300067
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Simplified gyral pattern, Hypoplasia... OMIM:618492
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory ... ORPHA:178320
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Agenesis of corpus callosum, Dental crowding, Smooth philtrum, Hypoplasia of the cor... OMIM:612948
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum, Death in childhood OMIM:613163
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the b... OMIM:619301
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough,... ORPHA:2032
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Hypoplasia of the corpus ... ORPHA:166024
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Hy... ORPHA:250972
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cryptorchidism, Open mouth, Simplified gyral pattern, Microcephaly OMIM:616681
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Thin upper lip vermilion, Agenesis of corpus callosum, Smooth philtrum OMIM:612337
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Pulmonar... OMIM:601160
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Ventriculomegaly, Abnormal... ORPHA:500166
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmon... ORPHA:199241
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Bilateral ptosis, Respiratory insufficiency due to musc... ORPHA:254875
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalu... OMIM:614120
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, ... OMIM:178550
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Death in childhood OMIM:211200
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microce... ORPHA:168486
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Orofaciodigital Syndrome Xv
Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Waardenburg Syndrome Type 3
Tracheomalacia, Thick eyebrow, Telecanthus, Blepharophimosis, Atelectasis, Downslanted palpebral ... ORPHA:896
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Warburg Micro Syndrome 1
Narrow mouth, Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypoplasi... OMIM:600118
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer OMIM:619101
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacification, Diffuse alveol... ORPHA:99931
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Ptosis, Respiratory insufficiency, Pulmonary hypoplasia OMIM:255320
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
3Q13 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Agenesis of corpus callosum ORPHA:1621
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Meckel diverticulum, Aplasia/Hypoplasia of the cerebellar vermis, Hy... OMIM:300864
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:225790
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
High palate, Agenesis of corpus callosum, Abnormal globus pallidus morphology, Ventriculomegaly, ... OMIM:618603
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Cerebe... ORPHA:79243
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough,... ORPHA:91359
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Agenesis of corpus callosum OMIM:619548
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Tented upper lip vermilion, Microcephaly, Parti... OMIM:619517
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Agenesis of corpus callosum, Cryptorchidism, Parietal cortical atrophy, Microcephal... OMIM:618766
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Microlissencephaly, Widely spaced teeth, Ventriculomegaly, Microcephaly, Liss... OMIM:616212
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Cerebellar hy... ORPHA:255138
Atelosteogenesis, Type Ii
Respiratory insufficiency, Death in infancy, Stillbirth, Pulmonary hypoplasia OMIM:256050
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory dist... OMIM:254210
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Gliosis, Thin ve... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Adult Acute Respiratory Distress Syndrome
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas lev... ORPHA:70578
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly OMIM:616342
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Cyanosis, Recurrent upper respiratory trac... ORPHA:95430
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ptosis OMIM:618637
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Cerebellar cyst, Occipital encephalocele, ... ORPHA:370959
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Downslanted palpebral fissures, Recurrent respiratory infections, R... ORPHA:2759
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Ventriculomegaly, Microcephaly, Pac... ORPHA:2512
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy, Tongue fasciculations OMIM:618276
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Pulmonary Alveolar Microlithiasis
Pulmonary infiltrates, Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis,... ORPHA:60025
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Long philtrum, Basal ganglia cysts, Agenesis of corpus callosum, Ventriculomega... OMIM:312170
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Hypoplastic hippocampus, Death in infancy, Agenesis of corpus callosum OMIM:600329
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Ptosis, Downslanted palpebral fissures, Respiratory insufficiency due to mus... OMIM:611890
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Lissencephaly, X-Linked, 2
High palate, Long philtrum, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly, Pachygy... OMIM:300215
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypn... ORPHA:217563
Avian Influenza
Nonproductive cough, Pulmonary infiltrates, Ground-glass opacification, Pneumonia, Hypoxemia, Tac... ORPHA:454836
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Dysplastic corpus callosum, Cerebellar atrophy, Agenesis of corpus callosum, Optic ... OMIM:614833
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory dist... OMIM:605809
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Hypoplasia of the pons, Optic nerve hypoplasia, Microcephaly, Dandy-... OMIM:618736
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Intrauterine growth retardation, Cavum septum pellucidum, Ventriculomegaly, Parti... OMIM:619074
Glycine Encephalopathy
Death in infancy, Agenesis of corpus callosum OMIM:605899
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Myasthenic Syndrome, Congenital, 19
Recurrent lower respiratory tract infections, Respiratory insufficiency, Ptosis OMIM:616720
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Chromosome 3Q13.31 Deletion Syndrome
High palate, Short philtrum, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly, High,... OMIM:615433
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Ground-glass opacification, Reduced forced expiratory volume in o... OMIM:300770
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow palpebral fissure, Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Cryptorchidism, Dandy-Walker malformation, Orbital encephalocele, Hy... OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Ventric... OMIM:615287
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, High palate, Cerebellar atrophy, Drooling, Ventriculomegaly, Microcephaly, Hypopl... OMIM:612936
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Thanatophoric Dysplasia
Downslanted palpebral fissures, Respiratory insufficiency, Pulmonary hypoplasia ORPHA:2655
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper... ORPHA:137914
Baraitser-Winter Syndrome 2
Long philtrum, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly, Pachygyria, Secondar... OMIM:614583
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Neonatal death, Telecanthus, Pulmonary hypoplasia OMIM:231680
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Pulmonary hypoplasia OMIM:617468
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
4Q21 Microdeletion Syndrome
Short philtrum, Agenesis of corpus callosum, Intrauterine growth retardation, Cerebellar hypoplas... ORPHA:238750
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Nasal polyposis, Bronchiectasis, Recurrent bronchiti... OMIM:244400
Pontocerebellar Hypoplasia, Type 4
Cerebellar hypoplasia, Gliosis, Microcephaly, Hypoplasia of the brainstem, Loss of Purkinje cells... OMIM:225753
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Ptosis, Respiratory distress OMIM:300580
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Nasal p... OMIM:618695
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Agnathia-Otocephaly Complex
Downslanted palpebral fissures, Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Acromelic Frontonasal Dysostosis
Cleft upper lip, Agenesis of corpus callosum, Retrocerebellar cyst, Cryptorchidism, Hypopituitari... OMIM:603671
Ciliary Dyskinesia, Primary, 2
Sinusitis, Immotile cilia, Nasal polyposis, Bronchiectasis, Ciliary dyskinesia, Recurrent respira... OMIM:606763
Holoprosencephaly 11
Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:605013
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormality of the basal ganglia, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Partial age... ORPHA:86822
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Long philtrum, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly, Broa... OMIM:618577
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Slc35A1-Cdg
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Respiratory failure requiring assisted ventilation, Restrictive ventilator... ORPHA:90060
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pterygium, Pulmonary hypoplasia ORPHA:994
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Nasal p... OMIM:616037
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612649
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Ventriculomegaly, Microcephaly, Lissencephaly, Sp... ORPHA:99742
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Conjunctivitis, Respiratory distress, ... ORPHA:3392
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Tetrasomy 5P
Cyanosis, Upslanted palpebral fissure, Pulmonary arterial hypertension, Recurrent respiratory inf... ORPHA:3309
Niemann-Pick Disease, Type B
Dyspnea, Recurrent respiratory infections, Diffuse reticular or finely nodular infiltrations, Dec... OMIM:607616
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Progressive microcephaly OMIM:607196
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Craniosynostosis 6
Abnormal corpus callosum morphology, Cerebellar atrophy, Agenesis of corpus callosum, Microcephal... OMIM:616602
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Restrictive ventilatory defect, Respiratory failure, Ptosis, Exertional dyspnea, Orthop... ORPHA:98913
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Perching Syndrome
Respiratory distress OMIM:617055
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Everted lower lip vermilion, Pr... OMIM:616819
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pulmonary infiltrates, Pneumonia, Abnormality on pulmona... ORPHA:1163
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly,... OMIM:218350
Jaberi-Elahi Syndrome
Cerebellar atrophy, Agenesis of corpus callosum, Microcephaly, Abnormality of the dentition, Tria... OMIM:617988
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Ptosis, Dyspnea, Recurrent respiratory infections, Stridor, Respirator... OMIM:211530
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Agenesis of corpus callosum, Intrauterine growth retard... OMIM:248700
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Neoplasm of the lung, Stridor, Upper airway obstruction, Respiratory distress ORPHA:142
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, High palate, Respiratory tract infection, Ventriculomegaly OMIM:218000
6Q25 Microdeletion Syndrome
High palate, Long philtrum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cleft pa... ORPHA:251056
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Morphological abnormality of the corticospinal tract, Dysgenesis of ... ORPHA:238722
Chitayat Syndrome
Recurrent respiratory infections, Respiratory distress, Tracheomalacia, Abnormal pulmonary inters... OMIM:617180
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Palpebral edema, Upper airway obstruction, Respiratory distress ORPHA:100057
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue ORPHA:314652
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Centrilobular ground-glass opacification on pulmonary HRCT, Hypox... ORPHA:79128
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Agenesis of corpus callosum, Thick lower lip vermilion, Primary microcephaly, Microcephaly, Cereb... ORPHA:466688
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Pulmonary infiltrates, Restrictive ventilatory defect, Pulmonary lymphang... ORPHA:538
Odontochondrodysplasia 1
Recurrent respiratory infections, Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:184260
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Diaphanospondylodysostosis
Tracheomalacia, Respiratory distress, Epicanthus, Respiratory insufficiency, Pulmonary hypoplasia OMIM:608022
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, T... OMIM:613735
Joubert Syndrome 21
Apnea, Ptosis, Pulmonary hypoplasia, Dyspnea OMIM:615636
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:618291
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Mental Retardation, Buenos Aires Type
High palate, Carious teeth, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,... OMIM:249630
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Short philtrum, Cerebral atrophy, Long philtrum, Agenesis of corpus callosum, Crypto... OMIM:619244
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Pneumonia, Agenesis of corpus callosum, Ventriculomegaly, Partial agenesis of t... ORPHA:1136
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum, Abnormality of the dentition ORPHA:2101
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Intrauterine growth reta... ORPHA:89844
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Craniosynostosis 3
Partial agenesis of the corpus callosum, Dental malocclusion OMIM:615314
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infection... OMIM:608644
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Cleft upper lip, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar h... OMIM:613150
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Frontal encephalocele, Thin upper l... ORPHA:521308
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneu... OMIM:614742
Vici Syndrome
High palate, Agenesis of corpus callosum, Cerebellar hypoplasia, Recurrent respiratory infections... ORPHA:1493
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Telecanthus, Epicanthus, Pulmonary hypoplasia OMIM:263210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephal... OMIM:615249
Pontocerebellar Hypoplasia, Type 2A
Progressive microcephaly, Cerebellar hypoplasia, Hypoplasia of the pons, Death in childhood, Micr... OMIM:277470
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the op... ORPHA:500144
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Conical tooth, Cryptorchidism, Agen... ORPHA:228390
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Synophrys, Pulmonary artery atresia, Pulmonary hypoplasia, Highly arched eyebrow OMIM:618316
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Agenesis of pineal gland, Cleft upper lip, Cleft palate OMIM:614402
Farber Disease
Recurrent upper respiratory tract infections, Abnormal conjunctiva morphology, Atelectasis, Respi... ORPHA:333
Tonne-Kalscheuer Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:300978
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Short philtrum, Intrauterine growth retardation, Tented upper lip vermilion, Partial agenesis of ... OMIM:618346
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure OMIM:617248
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Sparse lateral eyebrow, Telecanthus, Ptosis, Downslanted palpebral fi... ORPHA:314655
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Curry-Jones Syndrome
Agenesis of corpus callosum, Anal stenosis, Intestinal malrotation, Ventriculomegaly, Hemimegalen... OMIM:601707
Imagawa-Matsumoto Syndrome
Cryptorchidism, Anteriorly placed anus, Agenesis of corpus callosum, Polymicrogyria OMIM:618786
Emanuel Syndrome
Bifid uvula, Long philtrum, Cryptorchidism, Microcephaly, Dandy-Walker malformation, Cleft palate... ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Meckel Syndrome 12
Bifid uvula, Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:616258
Foxg1 Syndrome
Abnormal corpus callosum morphology, Agenesis of corpus callosum, Progressive microcephaly, Exces... ORPHA:561854
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Pulmonary infiltrates, Bronchiectasis OMIM:619468
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Generalized abnormality of skin, Cough ORPHA:2314
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Abnormal periventricular wh... OMIM:618476
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchiectasis, Ciliary dyskine... OMIM:612444
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, High palate, Partial agenesis of the corpus callosum OMIM:245349
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Primary Effusion Lymphoma
Pleural effusion, Dyspnea ORPHA:48686
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Congenital Myasthenic Syndrome
Cyanosis, Central sleep apnea, Ptosis, Episodic respiratory distress, Recurrent respiratory infec... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Central sleep apnea, Ptosis, Episodic respiratory distress, Recurrent respiratory infec... ORPHA:98914
Oculocerebrofacial Syndrome, Kaufman Type
Upslanted palpebral fissure, Short palpebral fissure, Thin eyebrow, Blepharophimosis, Respiratory... ORPHA:2707
Mitochondrial Pyruvate Carrier Deficiency
Epicanthus, Respiratory distress OMIM:614741
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Agenesis of corpus callosum, Cryptorchidism, Cerebellar ... ORPHA:899
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Abnormal breath sound, Crackles, Abnormal pleura morphology, Coug... ORPHA:210136
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Telecanthus, Respiratory tract infection, Ptosis, Downslanted palpebral fissures, Respiratory ins... OMIM:618975
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal breath sound, Paroxysmal dyspnea, Ectropion of lower ... ORPHA:141083
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Agenesis of corpus callosum, Open mouth, Tented upper lip vermilion, Ventriculomeg... OMIM:616362
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure OMIM:614299
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Agenesis of corpus callosum, Long philtrum, Basal ganglia cysts, Intrauterine growth... OMIM:613623
Frontonasal Dysplasia 1
Median cleft palate, Agenesis of corpus callosum, Cranium bifidum occultum, Pericallosal lipoma, ... OMIM:136760
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Recurrent respira... ORPHA:980
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Chiari malformation, Spina bifida, Hydrocephalus, ... OMIM:207950
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Agenesis of corpus callosum, Microcephaly, Hypoplasia of the corpus callosum,... OMIM:616239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar vermis hypoplasia... OMIM:616900
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Popliteal pterygium, Epicanthus, Ptosis, Antecubital pterygium, Downslanted palpebral ... ORPHA:2990
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Multiple Pterygium Syndrome, X-Linked
Epicanthus, Multiple pterygia, Pulmonary hypoplasia OMIM:312150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Short philtrum, Agenesis of corpus callosum, Small cerebral cortex, Microcephaly, H... OMIM:617360
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:453521
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Degeneration of the lateral corticospinal tracts, Cerebral cortical ... OMIM:604360
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Ptosis, Dyspnea ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Pulmonary hemorrhage, Cough, Dyspnea, Pulmonary arterial hyperten... ORPHA:2038
1Q44 Microdeletion Syndrome
High palate, Agenesis of corpus callosum, Intestinal malrotation, Exaggerated cupid's bow, Ventri... ORPHA:238769
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Short palpebral fissure, Blepharophimosis, Pulmonary hypoplasia OMIM:608149
Succinic Acidemia
Respiratory distress OMIM:600335
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Cryptorchidism, Unilateral cleft lip, Anencephaly, Subm... ORPHA:2189
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type I... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 65
Short philtrum, Long philtrum, Agenesis of corpus callosum, Thick upper lip vermilion, Tented upp... OMIM:619320
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Oral ... ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory failure, Neonatal death, Death in childhood, Neonatal respiratory distress, Respirato... OMIM:245400
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:610680
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Agenesis of corpus callosum, Microglossia, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:990
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Respiratory tract infection, Ptosis, Atelectasis, Exertional dy... ORPHA:365
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, Ptosis OMIM:256000
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Pulmonary hypoplasia, Respiratory infections in early... ORPHA:96179
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Death in childhood, Atelectasis, Recurrent respiratory infections... OMIM:618278
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypoplasia, Porencephalic ... OMIM:613001
Multiple Pterygium Syndrome, Lethal Type
Epicanthus, Multiple pterygia, Pulmonary hypoplasia OMIM:253290
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Thin vermilion border, Agenesis of corpus callosum ORPHA:261519
Hyperekplexia 4
Respiratory failure OMIM:618011
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft palate, Agenesis of corpus callosum, Anterior pituitary hypoplasia, R... ORPHA:1827
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Agenesis of corpus callosum, Non-midline cleft lip, Enamel ... ORPHA:2919
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Agenesis of corpus callosum ORPHA:93267
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Epicanthus inversus, Respiratory failure, Death in infancy OMIM:614862
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Agenesis of corpus callosum, Cleft soft palate, Esophageal atresia, Dow... OMIM:618779
Goodpasture Syndrome
Cyanosis, Pulmonary infiltrates, Restrictive ventilatory defect, Parenchymal consolidation, Retic... OMIM:233450
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly, Mi... OMIM:243310
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:3035
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Pulmonary hypoplasia OMIM:615415
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Long philtrum, Agenesis of corpus callosum, Intrauterine growth reta... OMIM:612863
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Popliteal pterygium, Neck pterygia, Epicanthus, Ptosis, Antecubital pteryg... OMIM:265000
Even-Plus Syndrome
High palate, Dysplastic corpus callosum, Agenesis of corpus callosum, Hypodontia, Anal atresia OMIM:616854
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Encephalocele, Delayed eruption of teeth, Agenesis of corpus callosu... OMIM:619148
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:250999
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Agenesis of corpus callosum... ORPHA:3301
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Pleural effusion, Microcephaly, Absent septum pellucidum, Protruding... ORPHA:1446
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Cerebellar atrophy, Cryptorchidism, Unilateral cleft palate, Unilater... OMIM:619103
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:266910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cryptorchidism, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Dandy-Walker... OMIM:236670
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callosum OMIM:615286
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Respiratory failure, Ptosis, Recurrent respira... ORPHA:98905
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Short-Rib Thoracic Dysplasia 12
Epicanthus, Atelectasis, Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:269860
Gaucher Disease, Perinatal Lethal
Petechiae, Respiratory distress, Neonatal death, Apnea, Purpura, Pulmonary hypoplasia OMIM:608013
Temtamy Syndrome
Agenesis of corpus callosum, Long philtrum, Ventriculomegaly, Hypoplasia of teeth, Dental crowding OMIM:218340
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Chronic sinu... ORPHA:420741
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Supe... ORPHA:314621
Scimitar Syndrome
Bronchogenic cyst, Pulmonary artery hypoplasia, Partial anomalous pulmonary venous return, Cough,... ORPHA:185
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Blepharophimosis, Bilateral lung agenesis, Pulmonary artery atresi... OMIM:601186
X-Linked Lissencephaly With Abnormal Genitalia
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Pachygyria, Death in infancy ORPHA:452
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Respiratory insufficiency, Pulmonary arterial hypertension, Pulmonary ar... OMIM:601559
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure OMIM:600333
Desmosterolosis
Narrow mouth, Abnormal cortical gyration, Bifid uvula, Agenesis of corpus callosum, Intrauterine ... ORPHA:35107
Melioidosis
Pneumonia, Lung abscess, Parotitis, Respiratory tract infection, Abnormal parotid gland morpholog... ORPHA:31202
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Anomalous origin of right pulmonary artery from ascending aorta, Aortopulmonary window,... ORPHA:99050
Fryns Syndrome
High palate, Ectopic anus, Long philtrum, Agenesis of corpus callosum, Non-midline cleft lip, Cry... ORPHA:2059
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Absent septum... OMIM:182230
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory tract infect... ORPHA:308552
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea, Pleural effusion, Pulmonary edema ORPHA:542323
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Widely spaced teeth, Dandy-Walker malformation, Hydrocephalus, Cleft... ORPHA:459061
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Agenesis of corpus callosum, Cryptorchidism, Aplasia of the olfactory bulb, Toot... OMIM:147950
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Exaggerated cupid's bow, Ventriculomegaly, Broad philt... OMIM:618619
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Bifid uvula, Agenesis of corpus callosum, Enamel hypoplasia, Cerebellar vermis ... OMIM:615802
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Respiratory failure, Respiratory insufficiency, Atelectasis, Pulmonary arterial hyper... ORPHA:258
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Oral ... ORPHA:220493
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure ORPHA:3226
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Highly arched eyebrow, Downslanted palpebral fissures, Bilateral pto... OMIM:145420
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Esophageal Atresia
Cyanosis, Restrictive ventilatory defect, Aspiration, Laryngotracheomalacia, Episodic respiratory... ORPHA:1199
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Agenesis of corpus callosum, Intrauterine growth retardation, Cryptorchidism, Megarectum, Hypodon... OMIM:301056
Ritscher-Schinzel Syndrome 4
High palate, Short philtrum, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:619435
Microphthalmia With Brain And Digit Anomalies
High palate, Agenesis of corpus callosum, Cryptorchidism, Inferior cerebellar vermis hypoplasia, ... ORPHA:139471
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, P... ORPHA:101030
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Sleep apnea, Respiratory insufficiency, Ptosis, Pulmonary arterial... ORPHA:98915
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Tac... ORPHA:555874
Trisomy 1Q
Narrow mouth, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypoplasia, Ventriculomegal... ORPHA:261344
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Pterygium, Pulmonary hypoplasia, Miscarriage ORPHA:1865
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Lissencephaly, Corti... ORPHA:468631
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retardation, Optic nerve hypoplasi... OMIM:609053
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Respirat... ORPHA:51636
Mosaic Trisomy 1
Short upper lip, Agenesis of corpus callosum, Cerebellar hypoplasia, Cerebellar vermis hypoplasia... ORPHA:1692
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Double Outlet Right Ventricle
Cyanosis, Tachypnea, Pulmonary artery atresia, Narrow palpebral fissure ORPHA:3426
Congenital Tracheal Stenosis
Cyanosis, Dyspnea, Upper airway obstruction, Neonatal asphyxia, Pulmonary artery atresia, Respira... ORPHA:141127
Orofaciodigital Syndrome V
High palate, Unilateral cryptorchidism, Bifid uvula, Agenesis of corpus callosum, Lobulated tongu... OMIM:174300
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Agenesis of corpus callosum, Cryptorchidism, Supernumerary nipple, Microdontia, Ventriculomegaly,... ORPHA:1812
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs