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Gene: Mapk8ip3 MGI:1353598

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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:
sunday driver 2,  JSAP1d,  JSAP1b,  c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1,  Jip3,  JNK-interacting protein 3,  Syd2,  JSAP1a,  D17Wsu15e,  JUN/SAPK-associated protein 1,  JSAP1,  JSAP1c

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Perisylvian polymicrogyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly 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
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... ORPHA:101029
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Lissencephaly 3
Periventricular laminar heterotopia, Microcephaly, Polymicrogyria, Gray matter heterotopia, Lisse... OMIM:611603
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... OMIM:300067
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... OMIM:600638
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventricu... ORPHA:171703
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Ventriculomegaly, Apnea, Microcephaly, Neuronal loss in the cerebr... ORPHA:168486
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Motor axonal neurop... OMIM:618276
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... OMIM:610031
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large ... ORPHA:300570
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hy... ORPHA:171680
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Ventriculomeg... OMIM:618709
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Ventriculomegaly, Optic ne... ORPHA:370959
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Microlissencephaly
Thick cerebral cortex, Subcortical heterotopia, Pneumonia, Cerebral dysmyelination, Microcephaly,... ORPHA:1083
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Death in infancy ORPHA:85334
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Peripheral axonal neuropathy, Cerebral dysmyelination, Respirato... OMIM:611722
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Gray matter heterotopia, ... OMIM:615411
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... OMIM:615771
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Lissencephaly 1
Subcortical band heterotopia, Abnormal cerebral white matter morphology, Gray matter heterotopia,... OMIM:607432
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions ORPHA:557003
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterot... OMIM:207950
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Microcephaly, Abnormal thalamus morphology, Pachygyria, Abnormality of the inte... ORPHA:467166
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,... ORPHA:363717
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Abnormal globus pallidus morphology, Abnormal caudate nucleus morph... ORPHA:397725
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis o... OMIM:616171
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Cerebral atrophy, Respiratory failure, Focal T2 hyp... OMIM:619057
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... OMIM:619302
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... ORPHA:1528
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatat... ORPHA:135
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly OMIM:618286
Cerebrooculofacioskeletal Syndrome 3
Cutaneous photosensitivity, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:616570
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep... OMIM:617090
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum... ORPHA:85179
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral ... OMIM:613153
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g... OMIM:312170
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Respiratory insufficiency, Optic atrophy, Agenesis of corpus callosum, Periventricular leukomalacia OMIM:618324
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Retinal degener... OMIM:252650
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... OMIM:618492
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... OMIM:620200
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Abnormality of the anterior commissure, Pachygyria, Optic nerve hypoplasia ORPHA:572013
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex, Colpocephaly, Ma... ORPHA:2185
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... ORPHA:284417
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea OMIM:616490
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Optic atrophy, Subcortical band heter... OMIM:615191
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callo... OMIM:619072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral w... ORPHA:352682
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Late... OMIM:618291
Lissencephaly 6 With Microcephaly
Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy... OMIM:616212
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, Abnormal retinal morphology, 4-layered lissencephal... ORPHA:89844
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failu... OMIM:618328
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Microcephaly, Optic atrophy, Death in childhood, Parietal cortical atrophy, Fro... OMIM:618766
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology OMIM:618646
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Lissencephaly, Hypoplasia of the corpus callosum, Periventricular ribbonli... OMIM:618677
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular nod... OMIM:608097
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Respiratory insu... OMIM:617668
Glutathionuria
Gray matter heterotopia, Asthma, Agenesis of corpus callosum OMIM:231950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... OMIM:618193
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Simplified gyral pattern OMIM:619301
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Subependymal cysts, Later... OMIM:610015
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Co... OMIM:619955
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Dysplastic corpus callosum, Retrobulbar optic neuritis, Secondary microcephaly... OMIM:619737
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Hemimegalencephaly
Focal cortical dysplasia, Ventriculomegaly, Optic atrophy, Hemimegalencephaly, Gray matter hetero... ORPHA:99802
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Agenesis ... OMIM:218670
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Hypoplasia of the corpus... OMIM:616900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Death in infancy, Agyria, Remnants of the hyaloid vascular sys... OMIM:614643
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cyanosis, Dysplastic... ORPHA:488627
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of th... ORPHA:2524
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypo... OMIM:304100
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:164180
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular heterotopia, Periventricular cysts, Hypoplasia of the corpus ca... ORPHA:255138
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Microcephaly, Paucity of an... OMIM:611890
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation OMIM:616816
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Death in childhood OMIM:613163
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Pulmonary sequestration OMIM:618330
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Lateral ventricle dilatation OMIM:618266
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... OMIM:615219
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Walker-Warburg Syndrome
Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Absent septum p... ORPHA:899
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Lateral ventricle dilatation, Respiratory insufficiency, Int... OMIM:607596
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Microcephaly, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failur... ORPHA:370968
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria OMIM:616342
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventriculomegaly, Microcephaly, Cerebellar gliosis, Partial agenes... ORPHA:79243
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Apnea, Episodic tachypnea, Cerebral atrophy, Pigmentary retinopathy, Abnormal ... ORPHA:79264
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... OMIM:182230
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Gliosis, Primar... OMIM:615095
Glycine Encephalopathy 1
Death in infancy, Agenesis of corpus callosum OMIM:605899
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere... ORPHA:1947
Basal Ganglia Calcification, Idiopathic, 5
Basal ganglia calcification, Cerebral calcification, Thalamic calcification OMIM:615483
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Abnormal thalamic MRI signal intensity, St... ORPHA:444013
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume OMIM:613668
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Subcutaneous hemorrhage, Microcephaly, Abnormality of neuronal migration,... ORPHA:1980
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin... OMIM:244400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Respiratory fai... OMIM:619847
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... ORPHA:506
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop... OMIM:613724
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... ORPHA:199241
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Optic atrophy, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Hy... OMIM:615330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg... OMIM:615286
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion, Sensory axonal neuropathy, Cerebral infarct ORPHA:254881
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Gliosis, Abnormal thalamus morphology, Abnormal pattern of respirati... ORPHA:88619
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra... OMIM:604317
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618317
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood OMIM:619517
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Gliosis, Microcephaly OMIM:225753
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Microcephaly, Perisylvian polymicrogyria, Optic atrophy, Cerebral atrop... OMIM:600118
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Apnea, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Respiratory fa... OMIM:610127
Pontocerebellar Hypoplasia Type 1
Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anteri... ORPHA:2254
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas... OMIM:619179
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocepha... OMIM:615249
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral calcification, Ventriculomegaly, Microcephaly, Resp... OMIM:617397
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Asthma, Lateral ventricle dilatation, Pleural effusion, Dandy-W... OMIM:618606
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Retinal coloboma, Hypothalamic ... OMIM:619775
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Optic atrophy, Agenesis of corpus callosum OMIM:618238
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Lissencephaly, X-Linked, 2
Gliosis, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:619111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Death in childhood OMIM:604273
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Symmetrical Thalamic Calcifications
Cerebral calcification, Abnormality of neuronal migration, Respiratory insufficiency, Microcephaly ORPHA:1314
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... ORPHA:2590
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Progeroid facial appearance, Dysplastic corpus c... ORPHA:357058
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Foxg1 Syndrome
Optic disc hypoplasia, Abnormal respiratory system physiology, Hypoplasia of the corpus callosum,... ORPHA:561854
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus... OMIM:617281
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... OMIM:608629
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Fusion of the left and right thalami... ORPHA:59315
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood OMIM:619423
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Thin corpus callosum OMIM:616277
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal... OMIM:604360
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Retinal coloboma, Polymicrogyria ORPHA:2328
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap... OMIM:608836
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... OMIM:610828
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Lissencephaly, Death in childhood, Pachygyria, Agenesis of corpu... OMIM:620316
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:614583
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Facial palsy, Microcephaly, Abnormal cerebral white matter morphology, Restrictive ventilatory de... OMIM:606612
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Abnormal substantia nigra morpho... ORPHA:79139
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Optic atrophy, Gray matter heterotopia, Ag... ORPHA:1493
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop... ORPHA:254930
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat... ORPHA:3078
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy OMIM:618810
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Optic atrophy, Simplified gyral pattern, Hypoplastic optic chiasm, Agenesis of corp... OMIM:617669
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Retinal dystrophy, Hydrocephalus, Respiratory failure, Hypoplasia of the ... OMIM:616538
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Tracheobronchomalacia, Lateral ventricle dilatation, Recurrent pneumonia OMIM:617751
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... OMIM:618603
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Apnea, Inspiratory stridor OMIM:600721
Amish Lethal Microcephaly
Death in infancy, Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesis of corpus ca... ORPHA:99742
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Microhydranencephaly
Microcephaly, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:605013
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Pulmonary arterial hypertensi... OMIM:300887
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Cerebral calcification, Hydrocephalus, Abnormality of neuronal mig... ORPHA:157
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Gray matter heterotopia, Facial diplegia, Abnormal cerebral white matter morphology... ORPHA:370980
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure, Gliosis, F... OMIM:256000
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Aganglionic megacolon, Microcephaly, Pachygyria, Agenesis of corpus callosum, V... ORPHA:452
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydranencephaly, Abno... ORPHA:2570
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly OMIM:615433
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Opti... OMIM:253800
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Periventricular heterotopia, Retinal pigment epithelial mottling, Lateral ventricle... OMIM:614105
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Res... OMIM:245400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumothorax, Dyspnea, Pulmonary in... ORPHA:538
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci... ORPHA:485421
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis of corpu... OMIM:225790
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus callosum, Lateral ventric... ORPHA:544488
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
Neuroferritinopathy
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... ORPHA:157846
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Hypointensity of cerebral white matter on MRI... ORPHA:83597
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ventriculomegaly, Decrea... OMIM:218000
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Microcephaly, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colp... OMIM:619833
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Hereditary Methemoglobinemia
Cyanosis, Microcephaly, Temporal cortical atrophy, Exertional dyspnea, Frontal cortical atrophy, ... ORPHA:621
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ... OMIM:603671
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Desmosterolosis
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Abnormality of... ORPHA:35107
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Optic atrophy, Increased cup-to-disc ratio, Secondary mi... ORPHA:500144
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Abnormal substantia nigra morphology, Hype... ORPHA:2822
Hyperekplexia 4
Respiratory failure, Cerebral atrophy OMIM:618011
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral white matter atrophy, Ventriculomegaly, Myelopathy, Leukoencephalopathy, Cervical myelop... OMIM:617186
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal thalamus morphology ORPHA:435638
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Neonatal respiratory distre... ORPHA:228308
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog... ORPHA:314621
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Optic atrop... OMIM:618476
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Fatigable weakness of bulbar muscle... ORPHA:803
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:218350
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... ORPHA:2038
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Abnormal auditory evoked potentials OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum,... OMIM:615287
Fg Syndrome 3
Death in infancy, Agenesis of corpus callosum OMIM:300406
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Cerebrofacioarticular Syndrome
Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the corpus callo... ORPHA:314679
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal... OMIM:615838
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Optic atrophy, Abnormal thalamic MRI signal intens... ORPHA:845
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Progeria-Short Stature-Pigmented Nevi Syndrome
Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance, Microc... ORPHA:2959
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Chorioret... OMIM:618733
16P13.11 Microdeletion Syndrome
Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum, ... ORPHA:261236
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Eosinophilia, Recurrent respiratory infections, Cough ORPHA:2314
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Ventriculomegaly, Chronic lung disease, Apnea, Occipital enceph... ORPHA:397715
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Jaundice... ORPHA:168577
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes... OMIM:620352
Hogue-Janssen Syndrome 2
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent... OMIM:616362
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Hypoplas... OMIM:616482
Holoprosencephaly 14
Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc... OMIM:619895
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Microcephaly, Respiratory insufficiency, Facial dipleg... OMIM:618186
Short-Rib Thoracic Dysplasia 12
Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Pulmonary hypoplasia, Holopro... OMIM:269860
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Microcephaly ORPHA:2216
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Optic atrophy, Cerebral atrophy, Abnormal basal... ORPHA:391428
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly OMIM:617478
Brain Small Vessel Disease 2
Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria, Ventriculomegaly OMIM:614483
Halperin-Birk Syndrome
Optic atrophy, Colpocephaly, Death in childhood, Aspiration, Agenesis of corpus callosum, Ventric... OMIM:618651
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, Death in ch... OMIM:614922
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly, Retinal neova... OMIM:619074
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... ORPHA:220497
Hydranencephaly
Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Cerebral cortica... ORPHA:2177
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P... ORPHA:209905
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Abnormal cranial nerve morp... ORPHA:990
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology ORPHA:70472
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Basal ganglia calcification, Cerebellar gliosis, Optic atrophy, Res... OMIM:616505
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Aicardi Syndrome
Retinal detachment, Spina bifida, Microcephaly, Pachygyria, Chorioretinal lacunae, Partial agenes... OMIM:304050
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Agenesis of corpus callosum ORPHA:137675
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Joubert Syndrome With Ocular Defect
Encephalocele, Retinal dystrophy, Aganglionic megacolon, Apnea, Hydrocephalus, Retinal coloboma, ... ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric... OMIM:617296
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Respiratory failure OMIM:618233
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Optic atrophy, Gliosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:616239
Curry-Jones Syndrome
Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, ... OMIM:616975
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Apnea, Episodic tachypnea, Hydrocephalus, Abnormality of ne... ORPHA:475
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc hypoplasia, Secondary microcephaly, Hypoplasia of the corpus... OMIM:619306
3-Hydroxyisobutyric Aciduria
Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly OMIM:236795
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Apnea, Hydrocephalus, Tachypnea, Abnorma... ORPHA:2318
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Gray matter heter... OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Pachygyria, Facial palsy, Abnormality of neuron... OMIM:608840
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Microcephaly, Hydrocephalus, Diffuse white matter abnormalities,... OMIM:259720
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary... ORPHA:54595
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Death in chil... OMIM:612301
1Q44 Microdeletion Syndrome
Optic disc hypoplasia, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency, Holop... ORPHA:93274
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Caudate atrophy, Respiratory failure, Cerebral atrophy ORPHA:363400
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormality of neuronal migration, Abnormal cerebral white matter morphology, Glios... OMIM:300957
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphology, Hypoplasia of ... OMIM:614407
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Respiratory failure, Neonatal d... OMIM:605711
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Agenesis of corpus callosum, Primary microcephaly ORPHA:466688
Panhypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Meningocele, Upper airway obstruction, Hypopituitar... ORPHA:1827
Agnathia-Otocephaly Complex
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia OMIM:202650
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Periventricular hetero... ORPHA:468631
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Retinal hemorrhage, Abnormal basal ganglia morphology, Abnormal periphera... ORPHA:464321
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Cutis marmorata, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:613735
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95512
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... ORPHA:420741
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Microcephaly, Optic atrophy, Pachygyria, Agenesis of corpus callosum OMIM:617595
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormality o... ORPHA:65
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity, Macular degeneration... ORPHA:48818
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Respiratory insufficiency, C... OMIM:617260
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie... ORPHA:536467
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... ORPHA:1194
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Tachypn... OMIM:604320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Retinal detachment, Retinal atrophy, Agyria, Optic nerve hypoplasia, Dan... OMIM:236670
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morpholo... OMIM:300868
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Polymicrogyria, Microcephaly OMIM:610678
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Focal T2 hyperintense thalamic lesion OMIM:619046
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agene... OMIM:613150
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Gliosis, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria ORPHA:280210
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Cyanosis, Hydrocephalus, Pulmonary arterial hypertension ORPHA:3309
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Thick corpus callosum, Ventriculomegaly, Periventricular heterotopia OMIM:618273
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Colpocephaly, Death in childhood, Ventriculomegaly OMIM:616034
Meningioma
Enlarged pituitary gland, Papilledema, Facial palsy, Reduced circulating prolactin concentration,... ORPHA:2495
Isolated Exencephaly
Holoprosencephaly, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Posterior pituitar... ORPHA:563612
Buerger Disease
Acrocyanosis ORPHA:36258
Sandestig-Stefanova Syndrome
Respiratory failure, Ventriculomegaly, Hypoplasia of the corpus callosum, Primary microcephaly OMIM:618804
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Tra... OMIM:613177
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Ventriculomegaly, Lateral ventricle dilatation, Dea... OMIM:619229
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Thin corpus callosum, Hypoplasia of the corpus callosum, Abnormality of ... OMIM:300049
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Lateral ventricle dilatation, Pulmonary arterial hypertension, Dilated third... ORPHA:464738
Mosaic Trisomy 1
Pulmonary artery atresia, Lateral ventricle dilatation, Agenesis of corpus callosum, Pulmonary hy... ORPHA:1692
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Alg1-Cdg
Progressive microcephaly, Respiratory failure, Cerebral atrophy ORPHA:79327
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the corpus callosum, Dandy-W... OMIM:613001
Bohring-Opitz Syndrome
Neonatal respiratory distress, Delayed peripheral myelination, Microcephaly, Gray matter heteroto... OMIM:605039
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Microcephaly ORPHA:2165
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callo... ORPHA:261250
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Seco... OMIM:618820
Periventricular Nodular Heterotopia 7
Optic disc pallor, Cortical dysplasia, Gray matter heterotopia, Hypoplasia of the corpus callosum... OMIM:617201
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Microcephaly, Optic atrophy, Respiratory failure, Hypoplasia of the corpus callosum, Ventr... OMIM:617301
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Anterior pituitary hypop... ORPHA:3157
Chronic Bilirubin Encephalopathy
Central apnea, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Prolo... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Prolo... ORPHA:529799
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutis marmorata, Anterior pituitary hypoplasia, Microcephaly, Dysplastic c... OMIM:151050
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dyspl... ORPHA:2556
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Encephalopathy, Ethylmalonic
Death in infancy, Abnormal retinal vascular morphology, Focal T2 hyperintense basal ganglia lesio... OMIM:602473
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Hydrolethalus
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Absent septum pellucidum ORPHA:2189
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Abnormal cerebral white matter mo... ORPHA:75857
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus, Gray matter heterotopia, Temporal lobe dysplasia, N... OMIM:187600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Chorioretinal dystrophy, Microcephaly, Dyspnea, Optic atrophy, Respiratory ... ORPHA:2707
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Ventriculomegaly OMIM:620166
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Agenesis of corpus callosum, Chorioretinal coloboma, Microcephaly ORPHA:139471
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation ORPHA:2148
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Death in infancy, Ventriculomegaly, Meningocele, Abnormality... ORPHA:2481
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H... ORPHA:206436
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Hydrocephalus, Lateral ventricle dilatation, Dilated third vent... OMIM:619575
Microform Holoprosencephaly
Microcephaly, Asthma, Panhypopituitarism, Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... OMIM:220110
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly OMIM:619312
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea, Cerebral atrophy OMIM:261680
Distal Deletion 10Q
Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly, Respiratory insufficiency ORPHA:2655
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... ORPHA:98755
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Respiratory failure, Gliosis, Subc... ORPHA:3240
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Microphthalmia, Syndromic 6
Retinal dystrophy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia of the optic ... OMIM:607932
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Periventricular heter... ORPHA:261552
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni... ORPHA:73263
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Hyperintensity of cerebral ... ORPHA:88618
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Microcephaly, Optic atrophy, Cerebral atrophy, Lissencephaly... OMIM:606812
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Microcephaly, Thin corpus callosum, Ventriculomegaly OMIM:619580
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Joubert Syndrome 30
Retinal dystrophy, Apnea, Tachypnea, Gray matter heterotopia, Dandy-Walker malformation, Ventricu... OMIM:617622
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Ventriculomegaly, Microcephaly ORPHA:2772
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... ORPHA:183
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Thin corpus callosum, Microcephaly OMIM:619694
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Simplified g... ORPHA:500150
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Stromme Syndrome
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Retinal vascular tortuosity, Age... OMIM:243605
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Hydrocephalus, Optic disc coloboma, Abnormality of neuronal migra... ORPHA:1454
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotop... OMIM:617822
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis, Tachypnea ORPHA:3426
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Cerebral atrophy, Hypopnea, Respiratory failure, Secondary mic... OMIM:617248
Bainbridge-Ropers Syndrome
Death in infancy, Lateral ventricle dilatation OMIM:615485
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Recurrent pneumonia, Upper airway obstruction, Respiratory insuffic... OMIM:614098
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Microcephaly, Focal T2 hy... OMIM:252010
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Respirato... ORPHA:496641
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Acrocyanosis, Abnormal basal ganglia MRI signal intensity, Petechiae ORPHA:51188
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... OMIM:311200
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory... OMIM:615636
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Plexiform neurofibroma OMIM:276300
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... OMIM:233450
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... ORPHA:980
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Petechiae, Microcephaly, Basal ganglia calcificatio... OMIM:225750
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Hypomelanosis Of Ito
Gray matter heterotopia, Cerebral atrophy, Microcephaly OMIM:300337
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cardiorespiratory arrest, Pachygyria, Agenesis of corpus callosum, Respiratory insufficiency ORPHA:93317
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Polymicrogyria, Agenesis of corpus... OMIM:264480
3C Syndrome
Death in infancy, Ventriculomegaly, Hydrocephalus, Optic atrophy, Abnormality of neuronal migrati... ORPHA:7
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilatory defect, Respi... ORPHA:26791
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Lateral ventricle dilatation ORPHA:177907
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Optic nerve... OMIM:610829
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Tuberous Sclerosis Complex
Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor... ORPHA:805
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis of th... OMIM:210710
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Weaver Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Neu-Laxova Syndrome
Ventriculomegaly, Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortic... ORPHA:2671
Orofaciodigital Syndrome Vi
Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, Periventricular nodular hetero... OMIM:277170
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Decreased r... ORPHA:95494
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Microcephaly, Leukoencephalopat... OMIM:620024
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Facial wrinkling OMIM:305450
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... OMIM:301043
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... ORPHA:1199
Thanatophoric Dysplasia Type 1
Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Excessive wrinkled skin, Ventr... ORPHA:1860
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
22Q11.2 Deletion Syndrome
Spina bifida, Atelectasis, Hydrocephalus, Chronic pulmonary obstruction, Abnormal lung lobation, ... ORPHA:567
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... OMIM:618500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Cerebral cortical atrophy, Dysgyria OMIM:620327
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... ORPHA:434179
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Abnormality of neuronal migrati... ORPHA:2518
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration, Microcephaly ORPHA:2065
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Retinitis, Microcephaly, Periventricular heterotopia, Partial agenesis o... OMIM:615948
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Neurooculorenal Syndrome
Ectopic posterior pituitary, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydroc... OMIM:620305
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still... OMIM:236680
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Ocular albinism ORPHA:2720
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Ventr... ORPHA:534
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma ORPHA:268249
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Holoprosencephaly
Encephalocele, Microcephaly, Hydrocephalus, Optic atrophy, Abnormality of neuronal migration, Res... ORPHA:2162
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus call... ORPHA:457284
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Pulmonary hypoplasia OMIM:263520
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Death in early adulthood, Microcephaly, Optic atrophy, Abnor... ORPHA:192
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Optic atrophy, Respiratory insufficiency, Respiratory failure, S... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microcephaly, Hypotha... OMIM:206900
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration ORPHA:44
Tetrasomy 18P
Abnormality of neuronal migration, Microcephaly ORPHA:3307
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... ORPHA:125
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Intermittent hyperventilation, Abnormality of neuronal migration, A... ORPHA:163681
Hartsfield Syndrome
Alobar holoprosencephaly, Microcephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Agenesi... OMIM:615465
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Abnormality of ne... ORPHA:2211
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Vici Syndrome
Schizencephaly, Macular atrophy, Microcephaly, Ocular albinism, Gray matter heterotopia, Macular ... OMIM:242840
Dravet Syndrome
Cyanotic episode ORPHA:33069
Zttk Syndrome
Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morphology, Hypoplasia ... OMIM:617140
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus ca... ORPHA:2754
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpu... OMIM:618797
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Agen... OMIM:309801
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:220386
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Microcephaly ORPHA:3304
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Facial palsy, Pneumonia, Abnormal basal ganglia morphology, Abnormal hypothalamus morp... ORPHA:68
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Lateral ventricle dilatation, Ventriculomegaly OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Chand Syndrome
Atelectasis ORPHA:1401
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, C... OMIM:620113
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Alg11-Cdg
Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Abnormal ... ORPHA:280071
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Giant s... ORPHA:268943
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Neonatal respiratory distress, Aplasia/Hypoplasia of the corpus callosum, Pigm... OMIM:214100
Tarp Syndrome
Cyanosis, Optic atrophy, Apnea, Abnormal corpus callosum morphology ORPHA:2886
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Absent septum pellucidum, Ventriculomegaly, Periventricular hetero... OMIM:618870
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Jaundice, Polymicrogyria OMIM:614887
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... ORPHA:352665
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... ORPHA:2912
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Costello Syndrome
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Vestibular schwannoma, ... OMIM:218040
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pneumonia, Ventriculomegaly ORPHA:1855
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Microcephaly, Abnormality of neuronal migration, Posterior... ORPHA:464311
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... ORPHA:647
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Hypoplasia of th... OMIM:601390
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Hypoplasia of the corpus callosum ORPHA:466791
Chromosome 1P36 Deletion Syndrome, Distal
Agenesis of corpus callosum, Hydrocephalus, Abnormal lung lobation, Lateral ventricle dilatation OMIM:607872
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microcephaly, Holoprosencephal... OMIM:157170
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Miller-Dieker Lissencephaly Syndrome
Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus callosum, Cavum se... OMIM:247200
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Decreased respo... ORPHA:273
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum ORPHA:531151
Smith-Lemli-Opitz Syndrome
Death in infancy, Diffuse cerebral atrophy, Aganglionic megacolon, Microcephaly, Periventricular ... OMIM:270400
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Microcephaly, Perisylvian predominant thick cortex pachygyria... ORPHA:98889
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Aqueductal stenosis, Hydrocephalus, Asthma, Pulmonary arterial ... OMIM:619534
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Kabuki Syndrome 1
Hydrocephalus, Recurrent aspiration pneumonia, Lateral ventricle dilatation OMIM:147920
Digeorge Syndrome
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis OMIM:188400
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Retinopathy, Apnea, Ventriculomegaly OMIM:617563
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele, Optic atrophy, Abnormal... ORPHA:991
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... OMIM:612289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Pitt-Hopkins Syndrome
Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Small cerebral co... ORPHA:2896
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... ORPHA:293987
Holoprosencephaly 1
Microcephaly, Ethmocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:236100
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... ORPHA:731
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Miscarriage, Microcephaly, Spinal dysraphism, Restrictive ve... ORPHA:96334
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Dysplastic corpus callosum, ... OMIM:613406
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Pachygyria, Agenesis of corpus callosum,... OMIM:606170
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Niemann-Pick Disease Type C
Jaundice, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pn... ORPHA:646
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltr... OMIM:181000
Van Maldergem Syndrome 2
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Tracheo... OMIM:615546
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Aicardi-Goutières Syndrome
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... ORPHA:51
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Arima Syndrome
Dilated fourth ventricle, Retinal dystrophy, Dyspnea, Tachypnea, Optic atrophy, Gray matter heter... OMIM:243910
Koolen-De Vries Syndrome
Gray matter heterotopia, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly OMIM:610443
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... ORPHA:97214
Abetalipoproteinemia
Abnormality of retinal pigmentation, Respiratory failure, Rod-cone dystrophy, Hypopigmentation of... ORPHA:14
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly ORPHA:2554
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Colpocephaly, Agenesis of corpus callosum, Death in adolescence OMIM:614866
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Gray matter heterotopia, Abnormal autonomic nervous system physiology, Hypoplasia o... ORPHA:453499
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Microcephaly ORPHA:3186
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Cutis marmorata, Optic neuropathy, Retinal crystals, Optic atrophy,... OMIM:259900
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... ORPHA:48435
Myhre Syndrome
Respiratory failure, Respiratory insufficiency, Microcephaly OMIM:139210
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Abnormality of the pulmonary artery, Agenesis of corpus callosum, P... ORPHA:261537
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Fraser Syndrome 2
Respiratory failure OMIM:617666
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Williams Syndrome
Death in early adulthood, Prematurely aged appearance, Atrophy/Degeneration involving the cortico... ORPHA:904
Primary Hyperoxaluria
Optic disc pallor, Choroidal neovascularization, Cutis marmorata, Optic atrophy, Acrocyanosis, Re... ORPHA:416
Periventricular Nodular Heterotopia 9
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular... OMIM:618918
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Choroidal neovascularization, Cyanosis, Abnormal re... ORPHA:51608
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Retinal dysplasia OMIM:601374
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, M... ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure, Microcephaly ORPHA:2636
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Pneumonia, Asthma, Aspir... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Pneumonia, Asthma, Aspir... ORPHA:353277
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:618443
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Mowat-Wilson Syndrome
Focal cortical dysplasia, Aganglionic megacolon, Microcephaly, Periventricular heterotopia, Large... ORPHA:2152
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Ventriculomegaly, Microcephaly OMIM:303600
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Proteus Syndrome
Abnormality of retinal pigmentation, Pulmonary embolism, Retinal hamartoma, Abnormal subcutaneous... ORPHA:744
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mapk8ip3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mapk8ip3.

No publications found that use IMPC mice or data for Mapk8ip3.

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