Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitogen-activated protein kinase 8 interacting protein 3
Synonyms:
N/A

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 Mapk8ip3 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 Mapk8ip3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypoplasia of the corpus callosum, Perisylvian polymicrogyria, Microcephaly, Cerebral atrophy OMIM:618443

The table below shows human diseases predicted to be associated to Mapk8ip3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus c... OMIM:604213
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Ventriculomegaly,... OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... OMIM:600348
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymic... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... OMIM:618709
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology... ORPHA:329228
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic atrophy, Dysplastic corpus callosum OMIM:613162
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Bronchopulmonary Dysplasia
Pulmonary sequestration, Hyperoxemia, Abnormal lung morphology, Abnormal respiratory system morph... ORPHA:70589
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Periventricular n... OMIM:617201
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Respirato... OMIM:619057
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral ... ORPHA:168486
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Primary microcephaly, Polymicrogyria, Agenesis of corpus ... ORPHA:171703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cutis marmorata, Hemimegalen... OMIM:615937
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Simplified gyral pattern OMIM:615763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular ribbo... OMIM:618677
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Enlarged sylvian cistern, Gray matter heterotopia, Ventriculomegaly, Agyria ORPHA:1084
Lissencephaly 4
Microcephaly, Agenesis of corpus callosum, Lissencephaly, Simplified gyral pattern OMIM:614019
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... OMIM:616081
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Ventriculomegaly, Respiratory insufficiency due to muscle weak... OMIM:618291
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Abnormality of neuronal migration, Cerebral calcification, Microcephaly, Subcut... ORPHA:1980
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Retinal atrophy, Cerebral atrophy, Respiratory insufficiency, Sensory axonal neuropathy, R... OMIM:610127
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Hemimegalencephaly
Pachygyria, Gliosis, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Hyperintensity of... ORPHA:99802
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, R... OMIM:600333
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern OMIM:617800
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Optic disc hypoplasia, Abnormal corpus callosum morphology, Polymicrogyria, Cortical ... OMIM:609528
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebral white... OMIM:618730
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Optic atrophy OMIM:618572
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Respiratory insufficiency due to muscle... OMIM:611890
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly, Death in childhood OMIM:302000
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Respiratory insufficiency, Abnormality of neuronal migration ORPHA:1314
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Maple Syrup Urine Disease
Respiratory insufficiency, Abnormality of the pharynx ORPHA:511
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Pneumonia, Agenesis of corpus callos... ORPHA:85179
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Death in infancy, R... OMIM:617248
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Hypoplasia of the frontal lobes, Microceph... ORPHA:2512
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Inspiratory stridor, Cyanosis, Myelomeningo... OMIM:207950
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Respiratory failure, Death in infancy, Gliosis OMIM:225753
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Glutamine Deficiency, Congenital
Apnea, Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Subependymal cysts, Neon... OMIM:610015
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Simplified gyral pattern, Microcephaly, Microlissencephaly, Agenesis of corpus ... OMIM:617090
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Cyanosis, Strido... ORPHA:444013
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Gliosis, Abnormal pattern of respiration, Abnormal putamen mo... ORPHA:88619
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap... ORPHA:70474
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Simplified gyral p... OMIM:618492
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... OMIM:252650
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Joubert Syndrome 23
Tachypnea, Dysplastic corpus callosum, Apnea OMIM:616490
Bowen Syndrome Of Multiple Malformations
Death in childhood, Agenesis of corpus callosum OMIM:211200
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Ventriculomegaly,... ORPHA:370980
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401820
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern OMIM:616051
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Pigment... ORPHA:79264
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Macular hypoplasia, Abnormal cortical gyra... ORPHA:2185
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Optic atrophy, Agenesis of c... ORPHA:1528
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Anencephaly, Ret... OMIM:615287
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Agenesis of corpus call... OMIM:617669
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Prog... OMIM:613402
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcephaly, Agenesis of cor... OMIM:614833
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Respiratory insufficiency OMIM:617892
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Death in infancy, Parietal cortical atrophy, Death in childhood, Microc... OMIM:618766
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebral cortical atrophy, Hydranen... ORPHA:2570
Brain Small Vessel Disease 2
Porencephalic cyst, Ventriculomegaly, Subcortical heterotopia, Polymicrogyria, Schizencephaly OMIM:614483
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern OMIM:604804
3-Hydroxyisobutyric Aciduria
Microcephaly, Congenital intracerebral calcification, Abnormality of neuronal migration OMIM:236795
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Death in infancy, Simplified gyral pattern, Hydrocephalus, Partial a... OMIM:619302
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Hypoplasia of the corpus callosum, Abnormal re... ORPHA:89844
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Respiratory failure, Leukoencephalopathy, Optic atrophy OMIM:618233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, R... OMIM:613153
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Optic neuritis, Dysgyria, Microcephaly, Optic atrophy,... ORPHA:135
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, H... ORPHA:1164
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Pigmentary retinopathy, Gliosis, Respiratory insufficie... OMIM:256000
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Macular degeneration, Agenesis of corpus callosum OMIM:612948
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker ma... ORPHA:262767
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Pol... OMIM:616212
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Optic atrophy OMIM:274270
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Dilation of ... OMIM:616816
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Retinal dystrophy, Polymicrogyria, Respirato... OMIM:616538
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:615838
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormality of the basal ganglia, Small basal ganglia, Respiratory insufficiency ORPHA:263410
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Corticospinal tract hypopla... ORPHA:255138
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, L... OMIM:218670
Arnold-Chiari Malformation Type Ii
Apnea, Hydrocephalus, Inspiratory stridor, Ventriculomegaly, Pneumonia, Aqueductal stenosis, Meni... ORPHA:1136
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Mental Retardation, Autosomal Dominant 13
Pachygyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Peripheral axon... OMIM:614563
Mental Retardation, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ab... ORPHA:254930
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... OMIM:245400
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Basal ganglia gliosis, Degeneration of anterior horn cells, Respi... OMIM:607596
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Gaba-Transaminase Deficiency
Death in childhood, Agenesis of corpus callosum OMIM:613163
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Agenesis of corpus callosum, Agyria, Lissencephaly OMIM:616342
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Ventriculomegaly, Macular hypoplasia, Simplified gyral pat... OMIM:615219
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Gray m... OMIM:164180
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Multifocal hyperintensity of cerebral white matter on MRI, Ven... ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Gray matter heterotopia, Retin... OMIM:615960
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:616900
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Decreased nerve conduction velocity, Secondary microcepha... ORPHA:485421
Pontocerebellar Hypoplasia, Type 13
Sleep apnea, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Pleural effusion, Recurr... OMIM:618606
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Glycine Encephalopathy
Death in infancy, Agenesis of corpus callosum OMIM:605899
Leukodystrophy, Hypomyelinating, 14
Microcephaly, Cerebral atrophy, Respiratory insufficiency OMIM:617899
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Walker-Warburg Syndrome
Pachygyria, Chorioretinal dysplasia, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, A... ORPHA:899
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Partial agenesis of the corpus callosum OMIM:618959
Rhombencephalosynapsis
Fusion of the left and right thalami, Ventriculomegaly, Aganglionic megacolon, Septo-optic dyspla... ORPHA:59315
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuron... OMIM:608840
Pontocerebellar Hypoplasia Type 2
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Abnormal ... ORPHA:2524
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Abnormal corpus striatum morphology, Respiratory distress, Respiratory... ORPHA:238329
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Recurrent pneumonia OMIM:268500
Isolated Focal Cortical Dysplasia
Abnormal neuron morphology, Abnormal cortical gyration, Hyperintensity of cerebral white matter o... ORPHA:65683
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Promin... OMIM:617751
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Simplified gyral pattern OMIM:619301
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypopituitarism, Up... OMIM:603671
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Ventriculomegaly, Cerebral atrophy, Apneic episodes precipitated by illness,... OMIM:312170
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Axonal loss, Neonatal respiratory distress, Abnormal cortical gyration, Peripheral axonal neuropa... OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Pachygyria, Type II lissencephaly, Gray matter heterotop... OMIM:614643
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Simpl... OMIM:614407
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Optic atrophy, Hydrocephalus, Dandy-W... OMIM:613154
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly, Central apnea ORPHA:71277
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Anencephaly OMIM:614120
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Subependymal cysts, Multifocal cerebral white matter abnormalities, D... OMIM:600721
Japanese Encephalitis
Abnormality of thalamus morphology, Decreased motor nerve conduction velocity, Focal T2 hyperinte... ORPHA:79139
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Hypointensity of cerebral white matter on MRI, Respiratory insufficie... OMIM:607855
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Death in infancy, Microcephaly, Optic atrophy, Agenesis of corpus... ORPHA:99742
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Hypohidrotic ectodermal dysplasia, Agenesis of corpus callosum OMIM:225040
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Optic ... ORPHA:1947
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Abnormal basal ganglia MRI signal intensity, Retinal vascular tortuosity ORPHA:51188
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis, Microcephaly, Narrow nasal bridge ORPHA:896
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Exertional dyspnea, Small basal ganglia, Mic... ORPHA:621
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormality of neuronal mig... OMIM:300957
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Optic atrophy, Mic... OMIM:600118
Septooptic Dysplasia
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Aganglionic megacolon,... OMIM:156810
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea, Abnormal thalami... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea, Abnormal thalami... ORPHA:529799
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Prematurely aged appearance, Central sleep apnea, Lack of fac... ORPHA:2959
Lissencephaly 8
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Microcephaly, Optic atrophy,... OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Retinal degeneration, Respiratory insufficiency due to musc... OMIM:615249
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Respiratory failure, Microcephaly, Optic atrophy, Hydrocephalus, Op... OMIM:259720
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Abnormal retinal vascular morphology, Focal T2 hyperintense basal gangli... OMIM:602473
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough, Neonatal respiratory d... OMIM:615451
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Gliosis, Hypoplasia of the corpus callosum, Diffuse s... ORPHA:506
Hsd10 Disease, Infantile Type
Cerebral atrophy, Retinal degeneration, Frontotemporal cerebral atrophy, Abnormality of the basal... ORPHA:391428
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cerebral edema, Death in infancy, Leukoencephalopathy OMIM:617186
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, Respiratory insufficiency, Death in childhood, Cerebral calci... OMIM:610333
Combined Oxidative Phosphorylation Deficiency 37
Retinal degeneration, Respiratory insufficiency, Respiratory failure, Secondary microcephaly, Opt... OMIM:618329
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic ... OMIM:619179
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Pachygyria, Chorioretinal dysplasia, Cerebral atrophy, Retin... OMIM:251270
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand... OMIM:225790
Adducted Thumbs Syndrome
Cerebral dysmyelination, Microcephaly, Myelin-dependent gliosis, Respiratory insufficiency OMIM:201550
Mitochondrial Complex I Deficiency, Nuclear Type 33
Ventriculomegaly, Abnormal cerebral white matter morphology, Optic atrophy, Respiratory insuffici... OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure, Gliosis ORPHA:280210
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Fusion of the left and right thalami, D... OMIM:619306
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Dilated fourth ventricle, Apneic episod... ORPHA:3078
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Pu... ORPHA:70578
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly, Apnea, Respiratory insufficiency OMIM:617290
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Ventriculomegaly, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Ventriculomegaly, Intracerebral periventricular... OMIM:608836
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure, Peripheral axonal neuropathy, Cerebellar gliosi... OMIM:616505
Coach Syndrome 2
Chorioretinal coloboma, Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Cerebral atrophy, Caudate atrophy ORPHA:363400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Panhypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormality of the posteri... ORPHA:95513
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Subcortical white matter calcifications, Absent brainstem auditory responses, Respirator... ORPHA:3240
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Kapur-Toriello Syndrome
Retinal coloboma, Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Polymicrogyria, Respiratory failure, Death in infancy OMIM:610678
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Cerebral cortical atrophy, Respirato... ORPHA:1194
Adenohypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormal thalamic MRI sign... ORPHA:95512
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Microcephaly, Abnormality of the diencephalon ORPHA:2165
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy, Optic atrophy OMIM:261680
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus OMIM:276950
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Cerebral atrophy, Prolonged neonatal jaundice, Petechiae, Basal ganglia ca... OMIM:225750
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Jaundice, Decreas... ORPHA:168577
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Baraitser-Winter Syndrome 2
Pachygyria, Ventriculomegaly, Secondary microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Ventriculomegaly, Respiratory insufficiency, Petechiae, Polymicrogyria, ... OMIM:617397
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Gray matter heterotopia, Death ... ORPHA:1493
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Cough, Respiratory... OMIM:616037
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Anterior predominant thick cortex pac... ORPHA:95232
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Gliosis, Ventriculomegaly, Abnormal thalamic MRI s... ORPHA:845
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Peripheral axonal neuropathy, Agenesis of corpus callosum OMIM:600638
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microhydranencephaly
Pachygyria, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum OMIM:605013
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Immunodeficiency 54
Adrenocorticotropic hormone excess, Microcephaly, Respiratory failure, Respiratory insufficiency OMIM:609981
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis, Stridor OMIM:150260
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Death in childhood, Agenesis of corpus callosum, Gliosis OMIM:214150
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Dyspnea, Abn... ORPHA:803
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Fatigable weakness of respiratory muscles, Exertional dyspnea, Or... ORPHA:98913
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sleep apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplastic anterior commissure... OMIM:616975
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Neonatal respiratory distress, Poly... ORPHA:157
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Foxg1 Syndrome
Pachygyria, Abnormal respiratory system physiology, Optic disc hypoplasia, Hypoplasia of the corp... ORPHA:561854
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Decreased sensory nerv... OMIM:218000
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Respiratory failure, Primary microcephaly OMIM:618804
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Thick cerebral cortex, Progeroid facial appearance, Primary microcephaly, Dysplastic ... ORPHA:357058
Alg13-Cdg
Anteverted nares, Abnormal lateral ventricle morphology ORPHA:324422
Joubert Syndrome
Apnea, Aplasia/Hypoplasia of the corpus callosum, Episodic tachypnea, Aganglionic megacolon, Abno... ORPHA:475
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal corpus striatum morphology, Abnormal thalamic MRI s... ORPHA:48818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Optic nerve hypoplasia, Leukoencephalopathy, Retinal detac... OMIM:615181
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Respiratory failure, Microcephaly, Op... OMIM:617301
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death, Peripheral axonal neuropathy OMIM:618810
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Abnormal lower motor neuron morphology, Resp... ORPHA:2590
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter morpholog... ORPHA:330021
Lissencephaly Type Iii And Bone Dysplasia
Microlissencephaly, Agenesis of corpus callosum OMIM:601160
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Apnea, Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, ... ORPHA:2318
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Abnormal globus pallidus morph... OMIM:618603
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Optic atrophy, Partial agenesis of the corpus callosum OMIM:618346
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventriculomegaly, Aganglionic megacolon, Death in infancy, Microcephaly, Agenesis of ... ORPHA:452
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Leukoencephalopathy, Optic atrophy, Progressive microcephaly OMIM:618226
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Depressed na... ORPHA:420179
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Central sleep apnea, Generalized abnormality of skin, Cough, Thalamic hemorrhage, Abnormality of ... ORPHA:464321
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular heterotopia OMIM:618974
Craniosynostosis 6
Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of corpus callo... OMIM:616602
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Recurrent respiratory infections, Atel... ORPHA:538
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
Snakebite Envenomation
Epistaxis, Hypopituitarism, Respiratory paralysis, Erythema, Respiratory failure, Angioedema, Ecc... ORPHA:449285
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Microcephaly, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test OMIM:615286
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Apnea, Tachypnea, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral... ORPHA:397715
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Sleep apnea, Ventriculomegaly, Retinal neovascularization, Partial agene... OMIM:619074
Breath-Holding Spells
Cyanosis OMIM:607578
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Chronic bronch... OMIM:615500
Craniopharyngioma
Sleep apnea, Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary h... ORPHA:54595
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Primary microcephaly, Increased cup-to-disc ratio, H... ORPHA:500144
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Abnormality of neuronal migration ORPHA:2772
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum, Tracheomalacia, Respiratory distress OMIM:202650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Ventriculomegaly, Intracerebral periventricular calcifications, Abnorm... ORPHA:228308
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Cerebral cortical atrophy... ORPHA:2518
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum ORPHA:166024
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Wide nose, Depressed na... ORPHA:488635
Microcephaly, Amish Type
Progressive microcephaly, Partial agenesis of the corpus callosum OMIM:607196
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respiratory distress, Recurrent... OMIM:608644
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, R... OMIM:253800
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Diffuse axonal swelling, Pachygyria, Neuronal loss in the cerebral cortex, Abnormality of the bas... ORPHA:86822
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Abnormality of neuronal mi... ORPHA:35107
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Abnormality of the optic nerve, Respiratory failure, Choroideremia... ORPHA:2707
Orofaciodigital Syndrome V
Aganglionic megacolon, Agenesis of corpus callosum OMIM:174300
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Respiratory failure, Hyperintensity of cereb... ORPHA:88618
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Vascular skin abnormality, Dysplastic corpus callosum, Hyperintensity of cerebral white matter on... ORPHA:544488
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Hypoplasia of the corpus callosum, Facial palsy, Microcephaly, Optic atrophy, Agenesis o... OMIM:616239
Curry-Jones Syndrome
Ventriculomegaly, Megalencephaly, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum OMIM:601707
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Hydrocephalus, Ocular albinism ORPHA:2720
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Irregula... ORPHA:90060
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Ventriculomegaly, Abnormality of neuronal migration, Microcephaly, Agenesis of... ORPHA:261236
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Tracheomalacia, Dys... ORPHA:314679
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Eos... ORPHA:1163
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hypointensity of cerebral white matter on MRI, Ab... ORPHA:206436
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Respiratory distress, Elevated circulating thyroid-stimulating hormone c... ORPHA:209905
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Respiratory distress, As... OMIM:618733
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Meningioma
Abnormality on pulmonary function testing, Focal T2 hypointense thalamic lesion, Hydrocephalus, N... ORPHA:2495
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Respiratory insufficiency ORPHA:2117
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Abnormal cranial nerve morphology, Agenesis of corpus callosum, Respiratory di... ORPHA:990
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Hemothorax, Cough, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Abnormal cerebral white matter morphology, Respiratory insufficiency, Cerebral cortical atrophy, ... OMIM:617668
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Agenesis of corpus callosum ORPHA:453521
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Respiratory insufficiency, Cortical dysplasi... OMIM:615574
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Hypoventilation, Pachygyria, Respiratory insufficiency, Atelectasis, Intercostal mu... ORPHA:258
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Pn... ORPHA:445038
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Neurofibrillary tangles, Respiratory insufficiency OMIM:607625
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Aspiration, Ventriculomegaly, Death in ... OMIM:618651
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Bulbous nose, Primary microcephaly, Per... ORPHA:293725
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy, Tracheomalacia, Neo... OMIM:618797
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Aganglionic megacolon, Polymicrogyria, Abnormal pattern of respiration, Age... ORPHA:220497
Fumarase Deficiency
Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Reduced subcutaneous adipose tissu... OMIM:606812
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Cutis marmorata OMIM:613735
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Congenital stationary night... ORPHA:314621
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Hypoplasia of the corpus callosum, Respiratory failure requiring assisted ve... ORPHA:496641
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
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