Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Draxin MGI:1917683

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dorsal inhibitory axon guidance protein

Synonyms:

Neucrin, 2610109H07Rik

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 Draxin 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 Draxin (0 diseases)
Human diseases predicted to be associated with Draxin (519 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
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
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum	OMIM:617542
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Lissencephaly 3	Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
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, Cerebral atrophy	ORPHA:85179
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum	OMIM:618286
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
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
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Lissencephaly Due To Tuba1A Mutation	Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ...	ORPHA:171680
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:1528
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:304100
Masa Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:303350
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra...	OMIM:613153
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ...	ORPHA:86822
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Anencephaly	OMIM:614120
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
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
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Microcephaly	OMIM:615286
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:164180
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Chiari Malformation Type Ii	Cervical myelopathy, Syringomyelia, Agenesis of corpus callosum, Spina bifida	OMIM:207950
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
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
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum	OMIM:610498
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr...	OMIM:619517
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Abnormal cerebral white matter morphology, Amyotrophic la...	OMIM:602099
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ...	ORPHA:79243
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:312170
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:615249
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria...	OMIM:225790
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ...	OMIM:620156
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria	ORPHA:101030
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum	OMIM:615433
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Brain Malformations With Or Without Urinary Tract Defects	Syringomyelia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Craniofacial Dyssynostosis With Short Stature	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Di...	ORPHA:370959
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616362
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	OMIM:175700
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum	OMIM:109120
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona...	ORPHA:293964
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Temtamy Syndrome	Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Ring Chromosome 22 Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology	OMIM:263570
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Hydrolethalus	Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens...	ORPHA:481152
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum	OMIM:619320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th...	ORPHA:3157
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:899
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:616975
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Cerebral cortical atrophy	OMIM:606353
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
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
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:615219
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
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu...	OMIM:614643
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:615802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Anencephaly, Abnorma...	OMIM:615287
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the pyramidal tract, Pachygyria, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:253800
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu...	OMIM:619775
Birk-Landau-Perez Syndrome	Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum	ORPHA:77298
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation	OMIM:617296
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Cerebellar hypoplasia, Hyperintensity of cerebral white matter on MRI, Ag...	OMIM:618476
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop...	OMIM:613150
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:619435
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Cutis Laxa, Autosomal Recessive, Type Iib	Agenesis of corpus callosum, Microcephaly	OMIM:612940
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum	OMIM:618929
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc...	ORPHA:357058
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:35107
Intellectual Disability-Strabismus Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Trisomy 1Q	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Co...	ORPHA:468631
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Acromelic Frontonasal Dysplasia	Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Curry-Jones Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hemimegalencephaly, Megalencephaly	OMIM:601707
Emanuel Syndrome	Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesis of corpus cal...	ORPHA:96170
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Fumarase Deficiency	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene...	OMIM:606812
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenes...	OMIM:243605
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Basal ganglia calcification, ...	OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains...	OMIM:236670
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:1812
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:618651
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Duplication Of The Pituitary Gland	Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly	ORPHA:314621
Pseudotrisomy 13 Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:264480
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261236
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Cal...	OMIM:603671
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Cerebral hypoplasia, Cerebellar hypoplasia, A...	OMIM:257300
Thakker-Donnai Syndrome	Agenesis of corpus callosum	ORPHA:1780
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positive cerebral incl...	ORPHA:52430
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co...	OMIM:613457
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:619148
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum	ORPHA:556955
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	OMIM:602398
15Q Overgrowth Syndrome	Syringomyelia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul...	ORPHA:263455
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Apert Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Kleefstra Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:261494
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont...	ORPHA:457284
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Microce...	OMIM:618500
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca...	OMIM:612651
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum	OMIM:117550
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-...	ORPHA:2298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Polymicrogyria	OMIM:277170
1Q21.1 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum	ORPHA:268249
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	OMIM:309801
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Melas	Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c...	ORPHA:550
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Po...	OMIM:620305
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Holoprosencephaly 14	Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus callosum, Partial absence ...	OMIM:619895
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym...	OMIM:618820
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Cerebellar hypopla...	OMIM:619512
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Tethered cord, Thin corpus callosum, Spina bifida	OMIM:619480
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Alexander Disease	Cerebral calcification, Agenesis of corpus callosum, Megalencephaly	ORPHA:58
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Peroxisome Biogenesis Disorder 5A (Zellweger)	Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic...	OMIM:614866
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum	OMIM:123790
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypopl...	OMIM:602535
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age...	ORPHA:2745
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Apert Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly	OMIM:101200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri...	ORPHA:508498
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Fanconi Anemia, Complementation Group D2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:242840
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Bohring-Opitz Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc...	ORPHA:97297
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l...	ORPHA:33364
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu...	OMIM:311200
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Marden-Walker Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2461
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Galactokinase Deficiency	Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia	ORPHA:79237
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Coffin-Siris Syndrome	Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly	ORPHA:1465
Jacobsen Syndrome	Pachygyria, Agenesis of corpus callosum, Cerebral atrophy, Spina bifida	ORPHA:2308
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Holoprosencephaly 7	Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum...	OMIM:610828
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Tethered cord, Agenesis of corpus callosum, Microcephaly	ORPHA:280
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum	OMIM:305450
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum	ORPHA:137675
Trisomy 8P	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Congenital Generalized Lipodystrophy	Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females	ORPHA:528
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:352665
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Holoprosencephaly 9	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Micr...	OMIM:610829
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Spina bifida occulta	OMIM:300373
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:363958
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Lenz-Majewski Hyperostotic Dwarfism	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Neu-Laxova Syndrome 1	Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes...	OMIM:256520
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Mandibuloacral Dysplasia	Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:2457
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Fryns Syndrome	Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-...	OMIM:229850
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosu...	OMIM:249000
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, D...	OMIM:236680
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Wolf-Hirschhorn Syndrome	Tethered cord, Absent septum pellucidum, Microcephaly, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Rubinstein-Taybi Syndrome 1	Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,...	OMIM:180849
Microphthalmia With Linear Skin Defects Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dandy-Walker malformation, Microcephaly, Partial agenesis of the corpus...	OMIM:270400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:619841
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Semilobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:220386
Alobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:93924
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Yunis-Varon Syndrome	Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pachygyria, Agenesi...	ORPHA:3472
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Leukoencephalopathy, Lateral ventricle dilatation, Hypoplasia of the co...	OMIM:607872
Baller-Gerold Syndrome	Spina bifida occulta, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218600
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
1P36 Deletion Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:1606
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Degcags Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619488
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia	ORPHA:79086
Focal Dermal Hypoplasia	Spina bifida occulta, Agenesis of corpus callosum, Microcephaly	OMIM:305600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ...	OMIM:220111
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Coffin-Siris Syndrome 1	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b...	OMIM:135900
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Hyperinsulinemia	OMIM:613327
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Wiedemann-Rautenstrauch Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w...	ORPHA:500150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Wiedemann-Rautenstrauch Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal corpus striatum morp...	ORPHA:3455
Peters-Plus Syndrome	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:466791
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co...	OMIM:216340
Atypical Werner Syndrome	Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1	Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr...	OMIM:269700
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Craniofacial Microsomia 1	Agenesis of corpus callosum	OMIM:164210
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318

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 Draxin

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 Draxin.

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

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
Draxin^{tm39241(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Draxin^{tm39241(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us