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Gene: Tubb3 MGI:107813

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tubulin, beta 3 class III

Synonyms:

betaIII-tubulin, 3200002H15Rik, Tuj1

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 Tubb3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tubb3 (5 diseases)
Human diseases predicted to be associated with Tubb3 (686 diseases)

The table below shows human diseases associated to Tubb3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
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
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Pachygyria, Abnormality of th...	ORPHA:467166
Congenital Fibrosis Of Extraocular Muscles	Polymicrogyria, Optic nerve hypoplasia	ORPHA:45358

The table below shows human diseases predicted to be associated to Tubb3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Agenesis Of Cerebral White Matter	Cerebral white matter agenesis	OMIM:202600
Specific Language Impairment 5	Hyperintensity of cerebral white matter on MRI	OMIM:615432
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
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
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Agenesis of corpus callosum, Periventricular leukomalacia, Optic atrophy, Respiratory insufficiency	OMIM:618324
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc...	ORPHA:1528
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebel...	ORPHA:572013
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Death in childhood, F...	OMIM:618766
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o...	OMIM:619466
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Hypop...	OMIM:618276
X-Linked Neurodegenerative Syndrome, Bertini Type	Death in infancy, Agenesis of corpus callosum	ORPHA:85334
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Lissencephaly, X-Linked, 1	Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Sensory axonal neuropathy, Abnormal corpus stria...	ORPHA:238329
Lissencephaly 3	Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Optic atrophy, Cerebral atrophy, Microcephaly	OMIM:274270
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Microcephaly...	ORPHA:171680
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Pneumonia, Cerebral atrophy	ORPHA:85179
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum,...	OMIM:616171
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cere...	OMIM:304100
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ...	OMIM:619301
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum	OMIM:618286
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Cerebral white matter atrophy, Neonatal respiratory distr...	OMIM:615042
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ...	OMIM:613153
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Peripheral axonal neuropathy	OMIM:619099
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood	OMIM:613163
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Mitochondrial Complex I Deficiency, Nuclear Type 16	Agenesis of corpus callosum, Caudate atrophy, Optic atrophy	OMIM:618238
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu...	OMIM:617977
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,...	OMIM:605253
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus...	ORPHA:990
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Optic atrophy, Cerebral a...	OMIM:600118
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:303350
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal...	OMIM:604360
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Pulmonary arterial hypertensi...	OMIM:300887
Glycine Encephalopathy 1	Death in infancy, Agenesis of corpus callosum	OMIM:605899
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of...	OMIM:616342
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Optic atrophy, Cerebellar ...	OMIM:607196
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea	OMIM:616490
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cerebral cortex, Respira...	ORPHA:168486
Mucolipidosis Iv	Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly	OMIM:252650
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m...	OMIM:300580
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology	ORPHA:91412
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Optic atrophy, Microcephaly	ORPHA:26792
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti...	OMIM:218000
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of...	OMIM:619955
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:245349
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Optic atrophy, Death in childhood, Microcephaly	OMIM:615597
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi...	OMIM:614399
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the...	ORPHA:500144
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:618346
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum	OMIM:619111
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissen...	ORPHA:99742
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus callosum, Cerebral at...	ORPHA:79243
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypopl...	ORPHA:89844
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:1832
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300934
Glutathionuria	Asthma, Agenesis of corpus callosum	OMIM:231950
Foxg1 Syndrome	Abnormal respiratory system physiology, Hypoplasia of the corpus callosum, Pachygyria, Agenesis o...	ORPHA:561854
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Cerebellar hypopla...	OMIM:617669
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g...	OMIM:312170
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto...	ORPHA:370959
Stt3B-Cdg	Respiratory distress, Optic atrophy, Microcephaly	ORPHA:370924
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Death in childhood, Pachyg...	OMIM:620316
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera...	ORPHA:1145
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea...	OMIM:619602
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Microcephaly, Pachygyria, Agenesis of corpus callosum	ORPHA:452
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi...	OMIM:619517
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Apnea, Optic atrophy, Respiratory distress	ORPHA:79097
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ...	OMIM:164180
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos...	OMIM:618603
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypo...	ORPHA:2524
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Progressive microc...	OMIM:615249
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Peripheral axonal neuropathy, Axonal degeneration, Paradoxical respiration	OMIM:620011
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Periventricular white matter hyperintensities, Sec...	OMIM:619737
Myopathy And Diabetes Mellitus	Respiratory distress, Peripheral axonal neuropathy	ORPHA:2596
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insuffici...	OMIM:616900
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Optic atrophy, Respirato...	OMIM:253800
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Vici Syndrome	Death in infancy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpu...	ORPHA:1493
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Polymicrogyria	OMIM:616974
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Hydrocephalus, Polymic...	ORPHA:220497
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Aspiration...	OMIM:618733
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Microcephaly	OMIM:615286
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Cerebellar hypoplasia	OMIM:618810
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Dandy-Walker malformation, Optic nerve hypoplasia, Pachygyria, P...	OMIM:614643
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum, ...	OMIM:207950
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Abnormal auditory evoked potentials	OMIM:109120
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Dyspnea, ...	OMIM:211530
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Fg Syndrome 3	Death in infancy, Agenesis of corpus callosum	OMIM:300406
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes...	OMIM:620352
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Optic atrophy, Microcephaly	OMIM:300004
Halperin-Birk Syndrome	Optic atrophy, Colpocephaly, Death in childhood, Aspiration, Agenesis of corpus callosum, Semilob...	OMIM:618651
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Neurofibroma, Pleural effusion, Agenesis of corpus callosum	ORPHA:1446
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Hydrocephalus, Polymic...	ORPHA:220493
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Perching Syndrome	Respiratory distress	OMIM:617055
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Agnathia-Otocephaly Complex	Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia	OMIM:202650
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum	ORPHA:1553
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Recurrent pneumonia, Cerebel...	OMIM:214150
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Optic atrophy,...	ORPHA:899
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Optic atrophy, Hypoplastic an...	OMIM:616975
Birk-Landau-Perez Syndrome	Neonatal respiratory distress, Microcephaly, Optic atrophy, Pachygyria, Agenesis of corpus callosum	OMIM:617595
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Cerebral white matter atrophy, Optic atrophy, Cerebellar hypoplasia, Abnorm...	ORPHA:329178
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Basal g...	OMIM:604377
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Peripheral demyelination	OMIM:616733
Frontonasal Dysplasia 1	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph...	OMIM:136760
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Succinic Acidemia	Respiratory distress	OMIM:600335
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Hyperintensity of ce...	OMIM:618476
Myotonic Dystrophy 1	Respiratory distress, Facial diplegia, Cerebral atrophy	OMIM:160900
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616362
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Igg4-Related Ophthalmic Disease	Eosinophilia, Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve	ORPHA:449563
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal ganglia calcification, ...	OMIM:617281
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Optic atrophy, Secondary microcephaly	OMIM:608799
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Isolated Atp Synthase Deficiency	Respiratory distress, Optic atrophy, Cerebral cortical atrophy, Microcephaly	ORPHA:254913
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th...	ORPHA:3157
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep...	OMIM:220110
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Optic atrophy	ORPHA:289916
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough, Microcephaly	ORPHA:86812
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Agenesis of corpus callosum	ORPHA:52055
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the corpus callo...	OMIM:619383
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Tetraamelia-Multiple Malformations Syndrome	Agenesis of corpus callosum, Septo-optic dysplasia, Optic atrophy, Hydrocephalus	ORPHA:3301
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Optic disc coloboma, Agenesis of corpus callosum, Recurrent aspiration pneumonia, Recurrent pneum...	OMIM:300472
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Optic atrophy, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Optic atrophy	ORPHA:79312
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Death in childhood, Dysplastic corpus callosum, Microcephaly	OMIM:604273
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood	OMIM:619423
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Optic nerve hypoplasia, Microcephaly, Pachygy...	OMIM:236670
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure	ORPHA:2707
Malaria	Respiratory distress	ORPHA:673
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Pulmonary arterial...	OMIM:619272
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebe...	ORPHA:468631
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Hypoplas...	OMIM:616482
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co...	OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi...	OMIM:613150
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic...	ORPHA:1546
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens...	ORPHA:481152
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Upper airway obstructio...	OMIM:603671
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In...	ORPHA:330021
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly	ORPHA:261304
Temtamy Syndrome	Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap...	OMIM:608836
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Agenesis of co...	ORPHA:87
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Tetanus	Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ...	ORPHA:3299
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalu...	ORPHA:157
Toriello-Carey Syndrome	Neonatal respiratory distress, Aganglionic megacolon, Microcephaly, Partial agenesis of the corpu...	ORPHA:3338
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Bohring-Opitz Syndrome	Neonatal respiratory distress, Delayed peripheral myelination, Microcephaly, Hypoplasia of the br...	OMIM:605039
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Hypoplasia ...	OMIM:616449
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:544503
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Microcephaly, Cerebellar hypoplasia, Tracheo...	OMIM:217980
Fumarase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymi...	OMIM:606812
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Upper airway obstruction, Hypoplasia of the olfactory bulb, Agenesis ...	ORPHA:1827
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Agenesis of corpus callosum, Hydrocephalus, Optic atrophy	OMIM:123790
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Hypoplasia of the corpus callosum	OMIM:617102
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas...	OMIM:619179
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,...	ORPHA:79330
Immunodeficiency 49	Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume	OMIM:617237
Alexander Disease	Cerebral calcification, Facial palsy, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Respira...	ORPHA:58
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Decreased siz...	ORPHA:98915
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Moebius Syndrome	Respiratory distress, Facial diplegia, Hypoplasia of the brainstem	OMIM:157900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress	OMIM:271225
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per...	OMIM:617360
Japanese Encephalitis	Decreased motor nerve conduction velocity, Respiratory distress, Abnormal substantia nigra morpho...	ORPHA:79139
Emanuel Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Cough, ...	ORPHA:96170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc...	ORPHA:357058
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Optic disc coloboma, Aganglionic megacolon, Microcephaly	OMIM:174300
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Aganglionic megacolon, Microcephaly, Optic atrophy, Agenesis of corpus callosum...	ORPHA:847
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Neonatal respiratory distre...	ORPHA:228308
Oculopharyngodistal Myopathy 1	Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf...	OMIM:164310
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus ca...	OMIM:613457
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:615802
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Cerebral calcification, Microcephaly, Recurrent pneumonia, Optic atrophy, D...	OMIM:617303
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P...	ORPHA:209905
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Aganglionic megacolon, Microcephaly	ORPHA:2919
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Microform Holoprosencephaly	Asthma, Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:35107
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:619435
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Melas	Peripheral axonal neuropathy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calc...	ORPHA:550
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Optic nerve dysplasia, Optic atrophy, Macrogyria, Death in adolescence, Colpoce...	OMIM:614866
Biotinidase Deficiency	Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation	ORPHA:79241
Marshall-Smith Syndrome	Apnea, Optic nerve hypoplasia, Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, Macrogy...	OMIM:602535
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly	ORPHA:927
Xp21 Deletion Syndrome	Apneic episodes in infancy, Agenesis of corpus callosum	ORPHA:261476
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce...	ORPHA:2519
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Respiratory insufficiency, Colpocephaly, Hypoplasia of the corpus callosum, Agenesi...	OMIM:617260
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Cereb...	OMIM:618426
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Intellectual Disability-Strabismus Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy...	OMIM:264480
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Optic atrophy, Cough, Agenesis of corpus callosum	ORPHA:137675
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu...	OMIM:619512
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Genitopatellar Syndrome	Agenesis of corpus callosum, Apnea, Microcephaly	ORPHA:85201
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu...	OMIM:619775
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Hydrocephalus, Optic atrophy, Cerebral at...	ORPHA:79282
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arteri...	ORPHA:3309
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly	ORPHA:50810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus callosum, Lateral ventric...	ORPHA:544488
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Tachypnea, Periventricular cysts, Increased caudate lactate level,...	ORPHA:3008
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Age...	OMIM:206900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Lateral ven...	ORPHA:464738
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Aganglionic megacolon, Absent septum pellucidum	ORPHA:3339
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Aganglionic megacolon, Focal hypointensity of cerebral white matte...	ORPHA:261552
Bohring-Opitz Syndrome	Apnea, Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	ORPHA:97297
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum	OMIM:618929
Monosomy 13Q34	Agenesis of corpus callosum, Epistaxis, Microcephaly	ORPHA:96168
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ...	ORPHA:93317
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Kleefstra Syndrome	Microcephaly, Dyspnea, Tracheomalacia, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:261494
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Dandy-W...	OMIM:257300
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted...	ORPHA:308552
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:619148
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pachygyria, Neonatal death	OMIM:231680
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:261236
Fryns Syndrome	Agenesis of corpus callosum, Aganglionic megacolon, Cerebral cortical atrophy, Dandy-Walker malfo...	ORPHA:2059
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus, Optic atrophy	ORPHA:1555
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum, Plexiform neurofibroma	OMIM:276300
Opitz Gbbb Syndrome	Aspiration, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Achondroplasia	Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction	OMIM:100800
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Episodic respiratory distress, ...	ORPHA:255210
Duplication Of The Pituitary Gland	Encephalocele, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly	ORPHA:314621
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Microcephaly, Spina bifida, Abnormal optic disc morphology,...	ORPHA:508498
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Craniofaciofrontodigital Syndrome	Hyperintensity of cerebral white matter on MRI, Dyspnea, Respiratory distress, Pulmonary arterial...	ORPHA:363705
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Hydrocephalus, Optic atrophy, Stridor, Pulmonary ar...	ORPHA:505248
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, Aplasi...	ORPHA:50
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Holoprosencephaly 14	Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag...	OMIM:619895
Semilobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality...	ORPHA:93924
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Diaphanospondylodysostosis	Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death, Microcephaly	OMIM:608013
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Primar...	ORPHA:1051
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Osteopathia Striata With Cranial Sclerosis	Apnea, Facial palsy, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Spin...	OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform...	ORPHA:314585
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Respiratory insufficiency	ORPHA:367
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ...	OMIM:210710
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Agenesis of corpus callosum	ORPHA:264200
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Stridor, Agenesis of corpus callosum, ...	ORPHA:2745
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Microcephaly	OMIM:616271
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Abnormal cortical gyration, Cerebellar hypoplasia, Hypoplasia of the corpus...	OMIM:300968
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Holoprosencephaly 9	Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus ...	OMIM:610829
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:277170
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Progressive microcephaly	OMIM:607143
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Cerebral atrophy	OMIM:620306
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Progressive microcephaly, Microcephaly	OMIM:610536
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum	OMIM:117550
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
Fryns Syndrome	Aganglionic megacolon, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, ...	OMIM:229850
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Nocturnal hypoventilation, Hypoplasia of the corpus callosu...	ORPHA:453504
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Nocturnal hypoventilation, Hypoplasia of the corpus callosu...	ORPHA:352665
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida	OMIM:619480
Ethylene Glycol Poisoning	Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral...	ORPHA:31826
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum, Facial palsy	ORPHA:2658
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:101200
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Microcephaly	ORPHA:438216
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bronchospasm, Per...	ORPHA:33364
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict...	ORPHA:536467
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Acrocallosal Syndrome	Agenesis of corpus callosum, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Diffuse leukoenceph...	OMIM:256810
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Cortical dysplasia, Noncommunicating hydrocepha...	ORPHA:805
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem...	OMIM:615465
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Hypoplasia of the corpus callosum, Trac...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Hypoplasia of the corpus callosum, Trac...	ORPHA:363958
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Leukoence...	ORPHA:17
Pfeiffer Syndrome Type 2	Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia	ORPHA:93259
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Cerebral edema	ORPHA:319213
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Abnormal autonomic nervous system physiology	ORPHA:2131
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Respiratory...	ORPHA:2556
Adnp Syndrome	Respiratory distress, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Aspirati...	ORPHA:404448
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Holoprosencephaly, Agene...	ORPHA:95494
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Optic atrophy, Microcephaly	ORPHA:280
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Chromosome 13Q14 Deletion Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpu...	OMIM:613884
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon	ORPHA:210122
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:242840
Zttk Syndrome	Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morphology, Cerebellar ...	OMIM:617140
Jacobsen Syndrome	Death in infancy, Spina bifida, Cerebral atrophy, Pachygyria, Agenesis of corpus callosum	ORPHA:2308
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy	OMIM:183900
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Leukoencephalopathy	OMIM:620369
Neu-Laxova Syndrome 1	Spina bifida, Stillbirth, Lissencephaly, Neonatal death, Cerebellar hypoplasia, Primary microceph...	OMIM:256520
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Epistaxis, Micr...	OMIM:619841
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus call...	OMIM:220111
Coffin-Siris Syndrome	Microcephaly, Simplified gyral pattern, Aspiration pneumonia, Agenesis of corpus callosum, Dandy-...	ORPHA:1465
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Ischemic stroke, Cough, Hyperventilation	ORPHA:90068
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Simplified gyral pattern, Abno...	ORPHA:500150
Smith-Lemli-Opitz Syndrome	Death in infancy, Diffuse cerebral atrophy, Dandy-Walker malformation, Aganglionic megacolon, Mic...	OMIM:270400
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Microcephaly, Polymicrogyria, Optic disc coloboma, Optic atrophy, Hydrocephalu...	OMIM:607872
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Mgat2-Cdg	Respiratory distress, Cerebellar hypoplasia, Progressive microcephaly	ORPHA:79329
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, Tracheomalacia	ORPHA:93260
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Lateral ventricle dilatation, Cerebral cortical atrophy, Microcephaly	ORPHA:177907
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Meckel Syndrome, Type 1	Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dandy-W...	OMIM:249000
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Decreased sensory nerve conduction velocity, Microcephaly	OMIM:615273
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Optic atrophy, Primary microce...	OMIM:616268
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Spina bifida occulta, Polymicrogyria, Agene...	OMIM:218600
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema, Microcephaly	OMIM:224690
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Rodrigues Blindness	Nasal flaring	OMIM:268320
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cere...	ORPHA:2273
Schinzel-Giedion Syndrome	Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Neural tube defect, Hypoplasia ...	ORPHA:798
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus	OMIM:618188
Rubinstein-Taybi Syndrome 1	Respiratory distress, Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI,...	OMIM:180849
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Mowat-Wilson Syndrome	Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal...	OMIM:235730
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
1P36 Deletion Syndrome	Agenesis of corpus callosum, Optic atrophy, Cerebral cortical atrophy, Microcephaly	ORPHA:1606
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Degcags Syndrome	Pneumonia, Microcephaly, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypertension, Agene...	OMIM:619488
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion	ORPHA:3260
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Optic atrophy, Spina bifida occulta, Agenesis of c...	OMIM:305600
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2554
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
8Q24.3 Microdeletion Syndrome	Respiratory distress, Optic nerve hypoplasia, Secondary microcephaly, Hypoplasia of the corpus ca...	ORPHA:508488
Simpson-Golabi-Behmel Syndrome	Death in infancy, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Yunis-Varon Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pulm...	ORPHA:3472
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:157170
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Hydrocephalus	OMIM:261740
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology	ORPHA:3206
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d...	OMIM:114290
Coccidioidomycosis	Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p...	ORPHA:228123
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Doors Syndrome	Respiratory distress, Microcephaly, Optic atrophy, Spina bifida occulta, Aspiration pneumonia, Po...	ORPHA:79500
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Pachygyria, Abnormality of th...	ORPHA:467166
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,...	ORPHA:3455
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Leptospirosis	Respiratory distress, Papilledema, Pleural effusion, Cough	ORPHA:509
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Pneumonia, Dandy-Walker malformation	OMIM:264090
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Aganglionic megacolon, Focal hypointensity of cerebral white matte...	ORPHA:261537
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the...	ORPHA:480880
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Gitelman Syndrome	Respiratory distress, Cerebral calcification	ORPHA:358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Microcephaly	ORPHA:83617
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory insuff...	ORPHA:93271
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:466791
Coffin-Siris Syndrome 1	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b...	OMIM:135900
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Microcephaly	OMIM:614748
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydroce...	OMIM:312870
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis...	ORPHA:2152
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co...	OMIM:216340
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre...	ORPHA:99646
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cerebral calcification, Encephalomalacia	ORPHA:51608
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Alström Syndrome	Respiratory distress, Optic disc pallor, Chronic pulmonary obstruction, Recurrent pneumonia, Rest...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aspiration pneumonia, ...	ORPHA:79318
Congenital Fibrosis Of Extraocular Muscles	Polymicrogyria, Optic nerve hypoplasia	ORPHA:45358

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 Tubb3

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 Tubb3.

No publications found that use IMPC mice or data for Tubb3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tubb3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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