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
Thin corpus callosum, Unilateral cryptorchidism, Probst bundles, Agenesis of corpus callosum, Lon... 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 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Cer... OMIM:604213
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Respiratory distress,... ORPHA:70589
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea, Neonatal respiratory dist... OMIM:267450
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary mic... ORPHA:171703
Immunodeficiency 95
Ground-glass opacification, Respiratory distress, Recurrent viral upper respiratory tract infecti... OMIM:619773
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ... OMIM:610921
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, R... ORPHA:70587
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Agenesis of corpus callosum, Death in infancy ORPHA:85334
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Peribronchovascular interstitial thickening, P... ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... OMIM:263000
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Lissencephaly 4
Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hy... OMIM:614019
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, T... OMIM:265120
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia, Intrauterine grow... OMIM:616570
Lissencephaly 3
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, A... OMIM:611603
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis OMIM:615294
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Primary microcephaly, Dys... OMIM:615771
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Primary microcephaly, Microlissencephaly, Thick vermilion bord... OMIM:617090
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Pneumonia, Ventriculomegaly, Partial agenesis of t... ORPHA:85179
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology, Recurr... ORPHA:922
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Respiratory insufficiency, Dyspnea, Abnormal lung morphology, ... ORPHA:60032
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa... ORPHA:255182
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of co... OMIM:619301
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Respiratory distress, Respiratory insufficiency, Intraalveolar phosph... OMIM:610913
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Atrophy/Degeneration affecting the brainstem, Microcephaly, Cerebral cortic... OMIM:620200
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Cerebella... OMIM:619302
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Progressive microcephaly, Everted lower lip vermilion, Hyp... OMIM:618959
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Dyspnea ORPHA:64741
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Respiratory distress, ... OMIM:610978
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Waardenburg Syndrome Type 3
Atelectasis, Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Acrocyanosis, Blepharoph... ORPHA:896
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Unilateral cryptorchidism, Probst bundles, Agenesis of corpus callosum, Lon... OMIM:618286
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, ... OMIM:304100
Pneumocystosis
Respiratory failure requiring assisted ventilation, Exertional dyspnea, Acute infectious pneumoni... ORPHA:723
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Recurrent respiratory infections, Cerebellar atrophy, Agenesis of c... OMIM:618324
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Recurrent respiratory infections, Tachypnea, Hypoxemia, Apnea, Pulmonary ... ORPHA:2257
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Exertional dyspnea, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pn... ORPHA:2902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Typ... OMIM:613153
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Retic... ORPHA:2032
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Lissencephaly, X-Linked, 1
Agyria, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Lob... OMIM:617127
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Agen... OMIM:618492
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Pulmonary hypoplasia, Neonatal death, Death in infancy OMIM:614096
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneu... ORPHA:3348
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum, Microglossia OMIM:616540
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Hypoxemia, Diffuse alv... ORPHA:178320
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Triangular mouth, A... ORPHA:166024
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis h... ORPHA:171680
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Narrow palate, Cerebral atrophy, Pontocerebellar atrophy, Hyperintensity of cerebral white matter... OMIM:620428
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Abnormal pattern of... ORPHA:724
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum OMIM:613163
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Dyspnea, Aspiration pneu... ORPHA:90117
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, C... ORPHA:1528
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum OMIM:303350
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Gliosis, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Reduced cerebral... OMIM:615095
High Altitude Pulmonary Edema
Pulmonary edema, Pulmonary opacity, Dyspnea, Orthopnea, Hypoxemia, Tachypnea, Cyanosis ORPHA:330012
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Dyspnea, Abnormal pl... ORPHA:2357
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the ski... OMIM:620321
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho... ORPHA:50251
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Open mouth, Agenesis of corpus callosum, Cryptorchidism, Primary microc... OMIM:616681
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
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
Hypoplasia of the corpus callosum, Tooth malposition, High palate, Microcephaly, Cleft palate, Ag... OMIM:618603
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Bilateral ptosis, Respiratory distress, Respiratory insufficiency, Ventilator dependence with ina... ORPHA:254875
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Respiratory distress, Acute infectious pneumo... ORPHA:140896
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar cyst, Periventricular leukomalaci... ORPHA:79243
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ptosis, Pulmonary hypoplasia OMIM:617468
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Widely spaced teeth, Lissencephaly, Polymicrogyria, Microlisse... OMIM:616212
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormality of the dentition, Abnormal cerebral white matter morpholo... ORPHA:500166
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Lipoid pneumonia, Dyspnea OMIM:620326
Warburg Micro Syndrome 1
Cerebral atrophy, Thin vermilion border, Hypoplasia of the corpus callosum, Enlarged sylvian cist... OMIM:600118
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
3Q13 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Agenesis of corpus callosum ORPHA:1621
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Cerebellar atrophy, Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cere... ORPHA:168486
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Agenesis of corpus callosum OMIM:619548
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Agenesis ... OMIM:617622
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Pneumothorax, Respiratory distress, Dyspnea, Parenchymal consolidatio... ORPHA:1302
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum, V... OMIM:614120
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the pons, Microcephaly, Simplified gyral patt... OMIM:616171
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Mismatch Repair Cancer Syndrome 4
Colon cancer, Agenesis of corpus callosum, Adenomatous colonic polyposis OMIM:619101
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Thin vermilion border, Frontal cortical atrophy, Narrow mouth, Microcephaly, Parietal cortical at... OMIM:618766
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Ptosis, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Dif... ORPHA:79127
Craniotelencephalic Dysplasia
Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fronta... OMIM:218670
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, N... OMIM:608647
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agyria, Death in infancy, Microcephaly, Neonatal death, Agenesis of corpus callosu... OMIM:616342
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea, Death in infancy OMIM:611722
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Death in infancy OMIM:300219
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Avian Influenza
Ground-glass opacification, Pneumothorax, Respiratory distress, Miscarriage, Pleural effusion, Dy... ORPHA:454836
Bronchiolitis Obliterans
Ground-glass opacification, Dyspnea, Bronchiectasis, Hypoxemia, Respiratory tract infection, Pneu... ORPHA:1303
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abno... OMIM:617542
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... ORPHA:199241
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callosum, Pachygyria, Ventricul... ORPHA:2512
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Delayed eruption of teeth, Gliosis, Cerebellar atrophy, Microcephaly, Cari... OMIM:214150
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Abnormal dentate nucleus morphology, Microcephaly, Tented upper lip vermili... OMIM:619517
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Abnormal brainstem morphology, Optic ner... ORPHA:370959
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Pneumonia, Respiratory failure, Pu... ORPHA:70578
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Lissencephaly, X-Linked, 2
Lissencephaly, Long upper lip, Gliosis, High palate, Decreased testicular size, Agenesis of corpu... OMIM:300215
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Cleft pa... OMIM:225790
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atele... OMIM:620233
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Exertional dyspnea, Respiratory insufficiency, Intraalveolar phosphol... OMIM:614370
Idiopathic Pulmonary Hemosiderosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Dyspnea, Diffuse alveolar hemorr... ORPHA:99931
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Downslanted palpebral fissures, Epicanthus, Respiratory failure, R... ORPHA:2759
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Recurrent respiratory infections ORPHA:2004
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Anal atresia, Hypoplasia of the pons, Microcephaly, Agenesis o... OMIM:617695
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Cavum septum pellucidum, Cerebellar vermis hypoplasia, Cleft palate, Intrauterine... OMIM:619074
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Cleft palate, Lobulated tongue, Agenesis of cer... OMIM:614815
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, High, narrow palate, Short philtrum, Hydroce... OMIM:620156
Interstitial Lung Disease 1
Ground-glass opacification, Intralobular septal thickening, Nonspecific interstitial pneumonia, D... OMIM:619611
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Nasal polypos... ORPHA:244
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Lissencephaly, Exaggerated cupid's bow, High palate, Dysgenesis of the basal ganglia, Agenesis of... OMIM:620316
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Broad philtrum, Lo... OMIM:618577
Glycine Encephalopathy 1
Agenesis of corpus callosum, Death in infancy OMIM:605899
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of the pons, ... OMIM:618736
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Apnea, Death in infancy OMIM:613869
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distress ORPHA:77260
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Pulmonary Hemosiderosis
Respiratory insufficiency, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, ... OMIM:178550
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Orbital encephalocele, Cleft palate... OMIM:164180
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Narrow palpebral fissure, Neonatal death, Pulmonary hypoplasia OMIM:236500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory... OMIM:620296
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Alobar holoprosencephaly, High palate, Decreased testicular size, Agenesis of cor... OMIM:615433
Holoprosencephaly 11
Microcephaly, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum, Cleft lip OMIM:614226
Baraitser-Winter Syndrome 2
Secondary microcephaly, Orofacial cleft, Lissencephaly, Wide mouth, Agenesis of corpus callosum, ... OMIM:614583
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Neonatal death, Agenesis of corpus callosum OMIM:610498
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Subpleural interstitial thickening,... ORPHA:60025
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Cerebellar atrophy, Narrow mo... OMIM:614833
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Pterygium OMIM:224410
Agnathia-Otocephaly Complex
Downslanted palpebral fissures, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Microhydranencephaly
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria, Ve... OMIM:605013
4Q21 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Abnormality of the dentition, Downturned corners of mouth,... ORPHA:238750
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Respiratory distress ORPHA:2414
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Neuralgic Amyotrophy
Respiratory insufficiency, Short palpebral fissure, Epicanthus, Acrocyanosis ORPHA:2901
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Lissencephaly, Abnormal basal ganglia morphology, Neuronal loss in the cerebral cortex, Cerebral ... ORPHA:86822
Interstitial Lung Disease 2
Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual i... OMIM:178500
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Thanatophoric Dysplasia
Respiratory insufficiency, Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:2655
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Recurrent respiratory infections, ... ORPHA:596
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Downslanted palpebral fissures, Respiratory insufficiency due to muscle weakness, Neonata... OMIM:611890
Chronic Beryllium Disease
Ground-glass opacification, Hypersensitivity pneumonitis, Respiratory insufficiency, Dyspnea, Pul... ORPHA:133
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Intercostal retractions, Respiratory distress, Diffuse reticular or f... ORPHA:91359
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Telecanthus, Respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:231680
Congenital Tracheomalacia
Pneumothorax, Cyanosis, Emphysema, Intercostal retractions, Respiratory insufficiency, Dyspnea, P... ORPHA:95430
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Telecanthus, Epicanthus OMIM:263210
6Q25 Microdeletion Syndrome
High palate, Microcephaly, Cleft palate, Agenesis of corpus callosum, Long philtrum, Ventriculome... ORPHA:251056
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res... ORPHA:60033
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Chiari type I malformation, Hydrocephalus, Pyloric stenosis, A... OMIM:218350
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
Tetrasomy 5P
Respiratory distress, Pulmonary hypoplasia, Epicanthus, Recurrent respiratory infections, Cyanosi... ORPHA:3309
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage ORPHA:238459
Marden-Walker Syndrome
High, narrow palate, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, High palat... OMIM:248700
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E... OMIM:612387
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Cyanosis ORPHA:747
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia, Pterygium ORPHA:994
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Everted lower lip vermilion, Cerebellar hypoplasia, Aplasia/Hypopla... OMIM:616819
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:234810
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ptosis OMIM:618637
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Dyspnea, Hemosiderin-laden macrophages in bronchoalve... OMIM:616414
Tonne-Kalscheuer Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:300978
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Chiari type I malformation, Ventriculomegaly, Cerebellar vermis hypoplasia,... OMIM:619720
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Short philtrum, High palate, Dilated third ventricle, Corpus callosum atrophy, ... OMIM:619244
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Gliosis, Death in infancy, Hypoplasia of the pon... OMIM:225753
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Microcephaly, Agenesis of co... OMIM:616602
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Wide mouth, Agenesis of corpus callosum, Smooth philtrum, Thin upper lip vermilion OMIM:619989
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis o... OMIM:615286
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Tularemia
Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural effusion, Conjunctival... ORPHA:3392
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Fg Syndrome 3
Chiari type I malformation, Agenesis of corpus callosum, Death in infancy OMIM:300406
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Cerebral calcification, Microlissencephaly, Cerebellar atrophy... ORPHA:89844
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Thick lower lip vermilion, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosu... ORPHA:466688
Farber Disease
Atelectasis, Respiratory distress, Respiratory insufficiency, Diffuse reticular or finely nodular... ORPHA:333
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Grubben-De Cock-Borghgraef Syndrome
Abnormality of the dentition, Partial agenesis of the corpus callosum ORPHA:2101
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Short philtrum, Microcephaly, Tented upper lip vermilion, Intrauterine growth retardation, Partia... OMIM:618346
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Multiple pterygia, Epicanthus OMIM:312150
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Microcephaly, Cerebral cortical atrophy, Simplified gyral pattern, Agenes... OMIM:617669
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Cerebellar dysplasia, Cleft... OMIM:613150
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Microcephaly, Agenesis of corpus callosum, Long philtrum, ... OMIM:312170
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy OMIM:241800
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Secondary microcephaly, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the pons, C... ORPHA:500144
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Bronchiectasis, Pne... OMIM:244400
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Respiratory tract infection, Diffuse white matter abnormalities, Agenesis of corpus ... OMIM:218000
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Myopathy 14
Respiratory failure, Apnea, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Craniosynostosis 3
Dental malocclusion, Partial agenesis of the corpus callosum OMIM:615314
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Vici Syndrome
High palate, Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Cere... ORPHA:1493
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Microcephaly, Neonatal death, Aplasia/Hypoplasia of t... OMIM:619602
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Tented upper lip vermilion, Open ... OMIM:616362
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Dyspnea, Panacinar emphysema OMIM:613490
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:3035
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Primary microcephaly, Partial agenesis of th... OMIM:607196
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Chiari type I malformation, Narrow mouth, Agenesis of corpus c... OMIM:613735
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Respiratory distress OMIM:614399
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Pulmonary fibrosis, Pneumonia, ... ORPHA:449280
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Microcepha... OMIM:615249
Amish Lethal Microcephaly
Cleft soft palate, Lissencephaly, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agene... ORPHA:99742
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,... ORPHA:217563
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microdontia, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Conical tooth, Abnormality of the dentition, Agenesis of cerebellar vermis, Agenes... ORPHA:228390
Emanuel Syndrome
Dental crowding, Microcephaly, Bifid uvula, Long philtrum, Ventriculomegaly, Intrauterine growth ... ORPHA:96170
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Multiple pterygia, Epicanthus OMIM:253290
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Teebi Hypertelorism Syndrome 1
Bilateral ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Pulmonary hypoplasia, Up... OMIM:145420
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Diaphanospondylodysostosis
Respiratory insufficiency, Pulmonary hypoplasia, Epicanthus, Respiratory distress OMIM:608022
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Imagawa-Matsumoto Syndrome
Polymicrogyria, Cryptorchidism, Anteriorly placed anus, Agenesis of corpus callosum OMIM:618786
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:250999
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Microcephaly 3, Primary, Autosomal Recessive
Widely spaced teeth, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary micro... OMIM:604804
Pneumothorax, Primary Spontaneous
Spontaneous pneumothorax OMIM:173600
Pulmonary Bullae Causing Pneumothorax
Repeated pneumothoraces OMIM:265200
Lymphangioleiomyomatosis
Pneumothorax, Retinal hamartoma, Atelectasis, Emphysema, Recurrent respiratory infections, Chylot... ORPHA:538
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, High palate, Partial agenesis of the corpus callosum OMIM:245349
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Pulmonary hypoplasia, Recurrent respi... OMIM:618316
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Meckel Syndrome 12
Cerebral hypoplasia, Microcephaly, Bifid uvula, Agenesis of cerebellar vermis, Agenesis of corpus... OMIM:616258
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Ptosis, Orthopnea, Respiratory failure, Cyanosis ORPHA:98913
Brown-Vialetto-Van Laere Syndrome 1
Respiratory failure requiring assisted ventilation, Nocturnal hypoventilation, Death in childhood... OMIM:211530
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:300887
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:187600
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Telecanthus, Respiratory distress, Aspiration pneumonia, Sparse lateral eyebrow,... ORPHA:314655
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Emphysema, Bronchiectasis ORPHA:1164
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Apnea, Neonatal death OMIM:610127
Al-Gazali-Bakalinova Syndrome
Triangular mouth, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... OMIM:607131
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Walker-Warburg Syndrome
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr... ORPHA:899
Even-Plus Syndrome
Dysplastic corpus callosum, High palate, Anal atresia, Agenesis of corpus callosum, Hypodontia OMIM:616854
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Abnormal eyel... ORPHA:2990
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Greig Cephalopolysyndactyly Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Anal atresia, Agenesis of corpus callosum, Cere... OMIM:175700
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Hypothalamic hamartoma, High ... OMIM:619775
Frontonasal Dysplasia 1
Anterior basal encephalocele, Median cleft palate, Agenesis of corpus callosum, Pericallosal lipo... OMIM:136760
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Respiratory distress ORPHA:137914
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal corpus callosum morphology,... ORPHA:561854
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Respiratory insufficiency, Pulmonary artery atresia, Agenesis of pulmona... OMIM:601186
Congenital Myopathy 17
Telecanthus, Respiratory insufficiency, Ptosis, Downslanted palpebral fissures, Pulmonary hypopla... OMIM:618975
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea, Death in infancy OMIM:616277
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Bronchiectasis, Recurrent respiratory infections, Absent i... OMIM:606763
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Anterior pituitary hypoplasia, Median cleft palate, Retrocerebellar c... ORPHA:1827
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in ... OMIM:618042
1Q44 Microdeletion Syndrome
Thin vermilion border, Hydrocephalus, Exaggerated cupid's bow, High palate, Intestinal malrotatio... ORPHA:238769
Intellectual Developmental Disorder, Autosomal Dominant 65
Short philtrum, Downturned corners of mouth, Thick upper lip vermilion, Tented upper lip vermilio... OMIM:619320
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Downturned corners of mouth, Agenesis of corpus callosum, Intrauterine growth retardation, Fronta... ORPHA:521308
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor... OMIM:604360
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pulmonary hypoplasia, Bilate... OMIM:611812
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Atelectasis, Respiratory distress, Respiratory insufficiency, Ptosis, Orthopn... ORPHA:365
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, High palate, Microcephaly, Agenesis of corpus callosum, Intrau... OMIM:618142
Joubert Syndrome With Renal Defect
Orofacial cleft, Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Ce... ORPHA:220497
Ring Chromosome 22 Syndrome
Pleural effusion, Protruding tongue, Microcephaly, Thick vermilion border, Agenesis of corpus cal... ORPHA:1446
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Hydrolethalus
Gingival cleft, Anencephaly, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate, Agen... ORPHA:2189
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Thin vermilion border, Agenesis of corpus callosum ORPHA:261519
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis ORPHA:2314
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia, Pterygium ORPHA:1865
Ritscher-Schinzel Syndrome 4
Narrow palate, Short philtrum, Dandy-Walker malformation, High palate, Wide mouth, Thick vermilio... OMIM:619435
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, High palate, Pulmonary artery atresia,... OMIM:620113
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Neonatal respiratory distress, Miscarriage, Pulmonary hypop... ORPHA:96179
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:615802
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Cortical dysplasia, ... OMIM:613001
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Respiratory insufficiency, Tachypnea, Pulmonary fibrosis, Respir... OMIM:618278
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia OMIM:615415
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Holoprosencephaly, Agenesis of corpus callosum, Microglossia, Aplasia/Hypoplasia of... ORPHA:990
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Short philtrum, Cavum septum pellucidum, Hig... OMIM:616449
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Orofacial cleft, Hydrocephalus, Narrow mouth, Anal atresia, Septo-optic d... ORPHA:3301
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Short philtrum, Agenesis of corpus callosum ORPHA:93267
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Baraitser-Winter Syndrome 1
Orofacial cleft, Lissencephaly, Microcephaly, Cleft upper lip, Wide mouth, Agenesis of corpus cal... OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Death in childhood, Encephalocele, Lissencephaly, Hydrocephalu... OMIM:614643
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Telecanthus OMIM:616897
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Telecanthus, Respiratory distress, Dyspnea, Absent eyebrow, Epicanthus, ... ORPHA:2707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly, Kinked brainstem, Microce... OMIM:236670
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Gliosis, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... OMIM:616239
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Global brain atrophy, Optic nerve hypoplasia, Pulmonary artery... OMIM:301056
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:452
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Agenesis of corpus callosum, Long philtrum, Ventriculomegal... OMIM:218340
Melioidosis
Lung abscess, Acute infectious pneumonia, Parotitis, Respiratory tract infection, Pneumonia, Abno... ORPHA:31202
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Blepharophimosis, Abnormal pleura morphology ORPHA:2570
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Anencephaly, Short philtrum, Delayed eruption of teeth, Encephalocele... OMIM:619148
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia, Respiratory distress OMIM:151210
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Microcephaly, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence... OMIM:619980
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Respiratory insuffici... ORPHA:258
Joubert Syndrome 21
Dyspnea, Ptosis, Apnea, Pulmonary hypoplasia, Respiratory failure OMIM:615636
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Epicanthus OMIM:269860
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Hydrocephalus, High palate, Intrauterine growth retardation, Probst bundles,... OMIM:612863
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Abnormal cerebellar vermis morp... ORPHA:300570
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Neonatal death, Pulmonary hypoplasia OMIM:251230
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Ptosis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Ptosis... ORPHA:98914
Delpire-Mcneill Syndrome
Cortical dysplasia, Tracheoesophageal fistula, Agenesis of corpus callosum OMIM:619083
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Respiratory distress OMIM:620306
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microlissencephaly, Small cerebral cor... OMIM:617914
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Fryns Syndrome
Aganglionic megacolon, Non-midline cleft of the upper lip, Ectopic anus, Dandy-Walker malformatio... ORPHA:2059
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Gingival overgrowth, Reduced cerebral white matter ... OMIM:620352
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory distress, Respiratory insufficien... ORPHA:308552
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... OMIM:618426
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Thick lower lip vermilion, Focal polymicrogyria, Cerebellar atrophy, ... OMIM:619103
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Widely spaced teeth, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Clef... ORPHA:459061
Spastic Paraplegia 50, Autosomal Recessive
Hypoplasia of the corpus callosum, Short philtrum, Gliosis, Cerebellar atrophy, High palate, Micr... OMIM:612936
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Pleural effusion, Hypoxemia, Respiratory failure, Tachypnea ORPHA:542323
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Unilateral cryptorchidism, Microcephaly, Cleft... OMIM:174300
Desmosterolosis
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Polymicrogyria, Narrow mouth, Intestina... ORPHA:35107
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Death in infancy, Recurrent pneumonia, Pulmonary hypo... OMIM:613177
Kagami-Ogata Syndrome
Short palpebral fissure, Pulmonary hypoplasia, Blepharophimosis OMIM:608149
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Chiari type I malformation, Hydrocephalus, Dandy-... OMIM:618476
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Myelomeningocele... ORPHA:101030
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Chromosome 1Q41-Q42 Deletion Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Pulmonary hypoplasia, Sparse eyebrow OMIM:612530
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Exaggerated cupid's bow, Colpocephaly, Agenesis of corpus call... OMIM:618619
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Atelectas... OMIM:615067
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Emphysema OMIM:618307
Joubert Syndrome With Ocular Defect
Orofacial cleft, Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Ce... ORPHA:220493
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Ptosis, Dyspnea ORPHA:352447
Absence Of The Pulmonary Artery
Pulmonary edema, Abnormal pulmonary thoracic imaging finding, Dyspnea, Orthopnea, Recurrent pneum... ORPHA:980
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Short philtrum, Cerebellar vermis hypoplasia, High palate, Microcepha... OMIM:620001
Gaucher Disease, Perinatal Lethal
Purpura, Respiratory distress, Petechiae, Apnea, Neonatal death, Pulmonary hypoplasia OMIM:608013
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Wide mouth, Thick v... OMIM:620250
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Hypoxemia, Respiratory failure, Tac... ORPHA:555874
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, High palate, Microcephaly, Agenesis of corpus callosum, Cr... ORPHA:139471
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress ORPHA:99825
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Thin vermilion border, Periventricular leukomalacia, Short phi... OMIM:617360
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Respiratory distress ORPHA:142
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Thin vermilion border, Global brain atrophy, Progressive micro... ORPHA:481152
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Ptosis, Abnormal pattern of respiration OMIM:256000
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Hypoxemi... ORPHA:90060
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis OMIM:604571
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Abnormal dental enamel morphology, Microdontia, Cleft palate, Agenesis of corpus c... ORPHA:1812
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Pulmonary interst... ORPHA:85443
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Tracheoesophageal fist... ORPHA:3157
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Short philtrum, High palate, Interhypothalamic adhesion, Agenesis of corpus callosum, Smooth phil... OMIM:618929
Trisomy 1Q
Hydrocephalus, Narrow mouth, Anal atresia, Cleft palate, Agenesis of corpus callosum, Cerebellar ... ORPHA:261344
Duplication Of The Pituitary Gland
Supernumerary tooth, Encephalocele, Abnormal pituitary gland morphology, Abnormal midbrain morpho... ORPHA:314621
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Toriello-Carey Syndrome
Cerebral atrophy, Abnormal palate morphology, Hypoplasia of the corpus callosum, Aganglionic mega... ORPHA:3338
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Acrocephalopolydactylous Dysplasia
Upslanted palpebral fissure, Pulmonary hypoplasia, Epicanthus, Extrapulmonary lobar sequestration OMIM:200995
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ... ORPHA:185
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Cerebellar atrophy, Abnormal periventricular white matter morphology, Mic... ORPHA:468631
Mosaic Trisomy 1
Orofacial cleft, Thick lower lip vermilion, Cerebellar vermis hypoplasia, Polymicrogyria, Pulmona... ORPHA:1692
Holoprosencephaly 14
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebell... OMIM:619895
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Microcephaly, Colp... OMIM:609053
Curry-Jones Syndrome
Anal stenosis, Megalencephaly, Chiari type I malformation, Intestinal pseudo-obstruction, Polymic... OMIM:601707
Lymphatic Malformation 12
Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory tract infections,... OMIM:620014
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Anterior pituitary... OMIM:182230
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bruising susceptibility ORPHA:3226
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia, Epicanthus, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Anomalous ori... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Telecanthus, Respiratory insufficiency, Highly arched eyebrow, Pulmonary artery atre... OMIM:620371
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Epicanthus ORPHA:1848
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dental crowding, Dandy-Walker malformation, High palate, Narrow mouth, Anal atresi... OMIM:612582
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Conjunctival telangiec... ORPHA:420741
Czeizel-Losonci Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:2437
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Respiratory failure, Recurrent respiratory infections, Ptosis ORPHA:98905
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Mitochondrial Pyruvate Carrier Deficiency
Epicanthus, Respiratory distress OMIM:614741
Neurofibroma
Neoplasm of the trachea, Multiple intestinal neurofibromatosis, Neoplasia of the pleura, Intestin... ORPHA:252183
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Tooth agenesis, Cleft upper lip, Cleft palate, Agenesis of corpus callosum, Cryptorchidism OMIM:147950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar cyst, Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencepha... OMIM:253800
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Ptosis, Neonatal death, Epicanthus, Respiratory failure OMIM:618186
Immunodeficiency 49
Short philtrum, Reduced cerebral white matter volume, Pulmonary artery stenosis, Natal tooth, Age... OMIM:617237
Atelosteogenesis Type I
Pulmonary hypoplasia, Telecanthus ORPHA:1190
Congenital Heart Block
Cyanosis, Pleural effusion ORPHA:60041
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Respiratory distress, Chylothorax, Death in infancy, Respiratory failure OMIM:620278
16P13.11 Microdeletion Syndrome
Exaggerated cupid's bow, Microcephaly, Cleft upper lip, Cleft palate, Wide mouth, Holoprosencepha... ORPHA:261236
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Lissencephaly, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified... OMIM:615219
Multiple Pterygium Syndrome, Escobar Variant