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Gene: Fezf2 MGI:1859823

Registered for phenotyping at IMPC

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

Gene Summary

Name:

Fez family zinc finger 2

Synonyms:

Zfp312, Fezl, Fez, forebrain embryonic zinc finger

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 Fezf2 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 Fezf2 (0 diseases)
Human diseases predicted to be associated with Fezf2 (485 diseases)

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

The table below shows human diseases predicted to be associated to Fezf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:610031
Chudley-Mccullough Syndrome	Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo...	OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short stature, Hyperactivity	DECIPHER:19
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Primary microcephaly, Polymicrogyria	ORPHA:171703
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Lissencephaly 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep...	OMIM:614019
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar...	OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o...	OMIM:615771
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Schizophrenia 15	Hyperactivity	OMIM:613950
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum	ORPHA:200
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:611603
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ventriculomegaly And Arthrogryposis	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401830
Smith-Magenis syndrome	Short stature, Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 33	Short stature, Hyperactivity	OMIM:616311
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401820
Intellectual Developmental Disorder, X-Linked 72	Short stature, Motor stereotypy, Hyperactivity	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ...	OMIM:309548
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus...	OMIM:618492
Fraxe Intellectual Disability	Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Impulsivity...	ORPHA:100973
Coasy Protein-Associated Neurodegeneration	Compulsive behaviors, Abnormal thalamus morphology	ORPHA:397725
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Lissencephaly, X-Linked, 1	Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300067
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Dysgen...	ORPHA:300573
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal eating behavior, Abnormal hypotha...	OMIM:614963
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, P...	OMIM:619302
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce...	OMIM:218670
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal...	ORPHA:1528
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Dysphagia	OMIM:613668
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cere...	OMIM:617090
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619301
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum	ORPHA:85179
Alexander Disease Type I	Dysphagia, Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Thin corpus callosum, Microcephaly, Agenesis of corpus callosum	OMIM:620200
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Thin corpus callosum, Agenesis of corpus callosum	OMIM:618286
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Subcort...	OMIM:600348
Developmental And Epileptic Encephalopathy 88	Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Progressive micro...	OMIM:618959
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang...	ORPHA:255182
Cerebrooculofacioskeletal Syndrome 3	Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum	OMIM:616570
Basal Ganglia Calcification, Idiopathic, 5	Motor tics, Thalamic calcification	OMIM:615483
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Intrauterine growth retardation, Growth delay, Focal T2 hyperintense thalam...	OMIM:619057
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ...	OMIM:304100
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Partial agenesis of the corpus callosum	OMIM:619025
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, Disinhibition	OMIM:618193
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog...	ORPHA:171680
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619466
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dysphagia, Thalamic calcification	OMIM:618317
Masa Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha...	OMIM:307000
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Microcephaly 16, Primary, Autosomal Recessive	Simplified gyral pattern, Primary microcephaly, Agenesis of corpus callosum	OMIM:616681
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	ORPHA:166024
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Tubulinopathy-Associated Dysgyria	Attention deficit hyperactivity disorder, Abnormal thalamus morphology	ORPHA:467166
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure	ORPHA:572013
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca...	OMIM:613153
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:613163
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum	OMIM:618766
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Agenesis of corpus callosum	OMIM:274270
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Autosomal Recessive Primary Microcephaly	Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum	ORPHA:2512
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Partial agenesis o...	OMIM:616171
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul...	ORPHA:255138
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr...	ORPHA:2182
Glycine Encephalopathy 1	Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar h...	OMIM:615095
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis...	OMIM:618325
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Short stature, Abnormal thalamus morphology	ORPHA:557003
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ...	OMIM:615925
Cach Syndrome	Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, T2 hypointense thala...	ORPHA:135
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:2508
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Hartnup Disorder	Short stature, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:234500
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Motor stereotypy, Hydrocephalus, Hyperactivity	OMIM:619470
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Polymicrogyria, Type II lissencephaly, Small basal ganglia, Abnormal basal ganglia morphology, Ag...	ORPHA:300570
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:600118
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal thalamus morphology	ORPHA:404440
Panhypophysitis	Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P...	ORPHA:95513
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:604804
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:164180
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Periventr...	ORPHA:79243
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Abnormal thalamus morphology	ORPHA:435638
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Juvenile Neuronal Ceroid Lipofuscinosis	Motor stereotypy, Focal T2 hyperintense thalamic lesion, Dysphagia	ORPHA:79264
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Lissencephaly 7 With Cerebellar Hypoplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly	OMIM:616342
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Meningocele,...	ORPHA:101030
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage	OMIM:142946
Foxg1 Syndrome	Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:561854
Lissencephaly 6 With Microcephaly	Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencephaly, Pachygyria, ...	OMIM:616212
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co...	OMIM:604360
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Dysphagia	ORPHA:1947
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Agitation	OMIM:619046
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesis of corpus callosum, Cerebella...	ORPHA:168486
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:605013
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618577
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion	ORPHA:254881
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Aggressive be...	OMIM:615286
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph...	OMIM:614833
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Dysphagia, Abnormal thalamic MRI signal intensity, Growth delay	ORPHA:485421
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Leukoencephalopathy, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microc...	OMIM:620428
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella...	OMIM:617695
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ...	OMIM:620156
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle di...	OMIM:619517
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebe...	OMIM:225790
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:615249
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microliss...	ORPHA:89844
Microcephaly, Amish Type	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Pri...	OMIM:607196
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria, ...	OMIM:620316
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da...	OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P...	OMIM:616819
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:615541
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ...	OMIM:620141
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:300887
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Intrauterine growth retardation, Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2570
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor...	ORPHA:86822
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:617914
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum	OMIM:610498
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyr...	ORPHA:370959
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Basal ganglia cysts, Cerebral atrophy, Agenesis of corpus callosum	OMIM:312170
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Hypoplasia of the pons, Hypoplasia of the optic tract, Secondary micro...	ORPHA:500144
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:614583
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida	OMIM:207950
Combined Oxidative Phosphorylation Defect Type 7	Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:254930
Joubert Syndrome 18	Agenesis of cerebellar vermis, Occipital encephalocele, Agenesis of corpus callosum	OMIM:614815
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Neuroferritinopathy	T2 hypointense thalamus, Dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:157846
Joubert Syndrome 30	Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:617622
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Partial agenesis of the corpus callosum	OMIM:245349
Progeria-Short Stature-Pigmented Nevi Syndrome	Short stature, Delayed puberty, Abnormal thalamus morphology	ORPHA:2959
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Primary microcephaly, Agenesis of corpus callosum	ORPHA:466688
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:218350
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity, Elevated circulatin...	OMIM:608747
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Pericallosal lipoma, Agenesis of corpus c...	OMIM:136760
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Houge-Janssens Syndrome 2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:616362
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
6Q25 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:251056
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth retardation, Pro...	ORPHA:54595
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618142
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypopl...	OMIM:617669
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Anorexia	ORPHA:79139
Rhombencephalosynapsis	Fusion of the left and right thalami, Hydrocephalus	ORPHA:59315
Hydranencephaly	Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ...	ORPHA:2177
Greig Cephalopolysyndactyly Syndrome	Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:175700
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Agenesis of corpus callosum,...	OMIM:619244
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Microcephaly, Partial agenesis of the corpus callosum	OMIM:618346
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Cerebrooculofacioskeletal Syndrome 1	Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Di...	OMIM:214150
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly	ORPHA:99742
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:607131
Leigh Syndrome	Intrauterine growth retardation, Agenesis of corpus callosum, Dysphagia, Growth delay, Abnormal t...	ORPHA:506
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Postnatal growth retardation, Communicating hydrocephalus, Decreased thalamic volume	ORPHA:168577
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communicating hydrocephal...	OMIM:615219
Acute Disseminated Encephalomyelitis	Aggressive behavior, Abnormal thalamic MRI signal intensity	ORPHA:83597
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of co...	OMIM:253800
Meckel Syndrome 12	Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agenesis o...	OMIM:616258
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:619074
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and...	OMIM:610828
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha...	OMIM:613001
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Hydrolethalus	Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2189
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Microcephaly, Agenesis of corpus callosum	ORPHA:452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of ...	OMIM:614643
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:238750
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Global brain atrophy, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of...	ORPHA:481152
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpus callosum, Colpoc...	OMIM:620352
Agnathia-Otocephaly Complex	Holoprosencephaly, Agenesis of corpus callosum	OMIM:202650
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:899
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2165
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Weiss-Kruszka Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618619
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum	ORPHA:228390
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:616239
Tay-Sachs Disease	Dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:845
Temtamy Syndrome	Thick corpus callosum, Agenesis of corpus callosum	OMIM:218340
Baraitser-Winter Syndrome 1	Pachygyria, Microcephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:243310
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Microcephaly 13, Primary, Autosomal Recessive	Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:616051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, C...	OMIM:613150
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Depressed nasal ridge, Absent nasal septal cartilage	ORPHA:2003
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, I...	OMIM:618929
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis...	OMIM:620073
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Optic nerve hy...	OMIM:609053
Braddock-Carey Syndrome 1	Microcephaly, Agenesis of corpus callosum	OMIM:619980
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephal...	OMIM:619720
Immunodeficiency 49	Eosinophilia, Reduced cerebral white matter volume, Agenesis of corpus callosum	OMIM:617237
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hydroce...	ORPHA:220497
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity, Elevated circulating growth hormone concentration	ORPHA:85327
Vici Syndrome	Cerebellar hypoplasia, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus call...	ORPHA:1493
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:617360
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph...	OMIM:620113
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
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Agenesis of corpus callosum, Cerebellar hypoplasia, Hyperintensity of cer...	OMIM:618476
Duplication Of The Pituitary Gland	Encephalocele, Self-mutilation, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Sh...	ORPHA:314621
Ring Chromosome 22 Syndrome	Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:1446
1Q44 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar ...	OMIM:301056
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin...	ORPHA:2495
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:615802
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:613735
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, ...	OMIM:248700
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebral atrophy, Polymicrog...	ORPHA:468631
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Hydrocephalus, Abnormality of the diencephalon	ORPHA:2720
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum	OMIM:616975
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:139471
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Communicating hydroc...	OMIM:615287
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Agenesis of corpus callosum	OMIM:300004
Emanuel Syndrome	Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Abnormal cerebral white matter morph...	ORPHA:96170
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hydroce...	ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo...	OMIM:236670
Septo-Optic Dysplasia Spectrum	Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Sept...	ORPHA:3157
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Agenesis of corpus callosum	ORPHA:261144
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp...	ORPHA:157
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C...	OMIM:616449
Acromelic Frontonasal Dysplasia	Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Agenesis of corpus callosum	ORPHA:1827
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:614924
Ritscher-Schinzel Syndrome 4	Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:619435
Isolated Exencephaly	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Trisomy 1Q	Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ...	OMIM:264480
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:35107
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, C...	ORPHA:96147
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Intellectual Disability-Strabismus Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	ORPHA:363528
Nizon-Isidor Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618872
Radio-Tartaglia Syndrome	Microcephaly, Agenesis of corpus callosum	OMIM:619312
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr...	OMIM:619103
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Cerebral atrophy	OMIM:617296
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Curry-Jones Syndrome	Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Lipomyelomeningocele, Occipital ...	OMIM:601707
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Polymicrogyria, Intracerebral periventricular calcifications, Cereb...	ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum	OMIM:612337
Birk-Landau-Perez Syndrome	Pachygyria, Microcephaly, Agenesis of corpus callosum	OMIM:617595
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Halperin-Birk Syndrome	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum	OMIM:618651
Mosaic Variegated Aneuploidy Syndrome 1	Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocepha...	OMIM:257300
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Thin corpus callosum, Poly...	OMIM:619775
Stromme Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, H...	OMIM:243605
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Microform Holoprosencephaly	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:280200
Trichothiodystrophy 4, Nonphotosensitive	Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly	OMIM:234050
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Agenesis of corpus callosum, Microcephaly, Anencephaly, Dandy-Walker malformation	OMIM:619148
Holoprosencephaly 14	Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Hydrocephalus, Partial absence ...	OMIM:619895
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:617260
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Fumarase Deficiency	Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus...	OMIM:606812
Bohring-Opitz Syndrome	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:605039
Toriello-Carey Syndrome	Abnormal corpus callosum morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesi...	ORPHA:3338
16P13.11 Microdeletion Syndrome	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co...	ORPHA:464738
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Intracerebral periventricular calcifications, Basal ganglia cysts, Agenesis of co...	OMIM:608836
Endocrine-Cerebroosteodysplasia	Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia o...	OMIM:612651
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:556955
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:301043
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pachygyria, Thin co...	OMIM:613457
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca...	ORPHA:1692
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydroce...	OMIM:619512
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum	OMIM:217980
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Polymicrogyria, Agenesis of corpus callosum...	OMIM:620305
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesi...	OMIM:618500
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum	ORPHA:96168
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Apert Syndrome	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:87
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Kleefstra Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:261494
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Alexander Disease	Cerebral calcification, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Megalenc...	ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Olivopontocerebell...	ORPHA:457284
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Porencephalic cyst, Oc...	OMIM:277170
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
1Q21.1 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus	OMIM:309801
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum	OMIM:605376
Genitopatellar Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:85201
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Sotos Syndrome	Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:117550
8P Inverted Duplication/Deletion Syndrome	Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:96092
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum	OMIM:300000
Pyruvate Carboxylase Deficiency	Increased caudate lactate level, Periventricular cysts, Agenesis of corpus callosum, Cerebral whi...	ORPHA:3008
21Q22.11Q22.12 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:261323
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:314585
Melas	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcifi...	ORPHA:550
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Pachygyria	OMIM:614866
Apert Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Mega...	OMIM:101200
Fryns Syndrome	Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2059
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Cerebral atrophy, Cerebral calcification, Absent septum pellucidum, Ag...	ORPHA:2396
Marshall-Smith Syndrome	Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:602535
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum	OMIM:174300
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Orofaciodigital Syndrome I	Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr...	OMIM:311200
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:615465
Acromelic Frontonasal Dysostosis	Calcification of falx cerebri, Absent septum pellucidum, Tubulonodular pericallosal lipoma, Hypop...	OMIM:603671
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Aicardi Syndrome	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Spina b...	OMIM:304050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:847
Brain-Lung-Thyroid Syndrome	Microcephaly, Cavum septum pellucidum, Agenesis of corpus callosum	ORPHA:209905
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,...	OMIM:151050
Opitz Gbbb Syndrome	Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:2745
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Dysphagia, Lateral ventricle dilatation	ORPHA:2822
Fanconi Anemia, Complementation Group D2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:227646
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Cerebral hypoplasia, Lateral ventricle ...	OMIM:210710
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mic...	ORPHA:508498
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal corpus callosum morphology, Hypoplastic anterior commissure, Polymicrogyria, Secondary m...	ORPHA:261552
Toriello-Lacassie-Droste Syndrome	Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:3339
Trichothiodystrophy	Cerebral cortical atrophy, Periventricular leukomalacia, Microcephaly, Partial agenesis of the co...	ORPHA:33364
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum	ORPHA:93317
Microphthalmia, Syndromic 3	Microcephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:206900
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:304110
Holoprosencephaly 1	Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo...	OMIM:236100
Marden-Walker Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydro...	ORPHA:2461
Chromosome 13Q14 Deletion Syndrome	Holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpu...	OMIM:613884
Vici Syndrome	Cerebellar vermis hypoplasia, Schizencephaly, Microcephaly, Agenesis of corpus callosum	OMIM:242840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619418
Bohring-Opitz Syndrome	Microcephaly, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	ORPHA:97297
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Trisomy 8P	Microcephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:264450
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Partial agenesis of the corpus callosum	OMIM:617478
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619194
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Hypoplasia of the corpus c...	OMIM:615948
Meckel Syndrome, Type 1	Cerebral hypoplasia, Occipital encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Microcephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Microcephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	ORPHA:352665
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Jacobsen Syndrome	Pachygyria, Spina bifida, Cerebral atrophy, Agenesis of corpus callosum	ORPHA:2308
Aicardi Syndrome	Polymicrogyria, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Partial agenesis ...	ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Koolen-De Vries Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spin...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spin...	ORPHA:363958
Holoprosencephaly 9	Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Holoprosenceph...	OMIM:610829
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:300373
Coffin-Siris Syndrome 4	Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:614609
Phace Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malformation, Opti...	ORPHA:42775
Coffin-Siris Syndrome	Microcephaly, Simplified gyral pattern, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:1465
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2658
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2538
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Smith-Lemli-Opitz Syndrome	Global brain atrophy, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Diffuse...	OMIM:270400
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Wolf-Hirschhorn Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:280
Fryns Syndrome	Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Dandy-Walker malformation, Agenesis...	OMIM:229850
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2556
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Restlessness	ORPHA:68
Monosomy 9P	Microcephaly, Agenesis of corpus callosum	ORPHA:261112
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Histidinemia	Hyperactivity	ORPHA:2157
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida	OMIM:619480
Neu-Laxova Syndrome 1	Hydranencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Dandy-...	OMIM:256520
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy...	OMIM:157170
Orofaciodigital Syndrome Type 1	Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2750
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Anencephaly, D...	OMIM:236680
Combined Pituitary Hormone Deficiencies, Genetic Forms	Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Septo-optic dysplasia, ...	ORPHA:95494
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Communicating hydrocepha...	OMIM:619841
Rubinstein-Taybi Syndrome 1	Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Microcephaly, Spina ...	OMIM:180849
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93924
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Hyp...	OMIM:607872
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Agenesis of corpus callosum	ORPHA:226307
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Agenesis of corpus callosum, Primary micr...	ORPHA:3472
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:506358
Wolf-Hirschhorn Syndrome	Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Hydro...	OMIM:194190
Norrie Disease	Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed puberty, Abnormality o...	ORPHA:649
Orofaciodigital Syndrome Type 14	Open operculum, Hypoplasia of the corpus callosum, Microcephaly, Partial agenesis of the corpus c...	ORPHA:434179
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypo...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:373
Williams Syndrome	Overfriendliness, Attention deficit hyperactivity disorder, Abnormality of the diencephalon, Comp...	ORPHA:904
Degcags Syndrome	Microcephaly, Agenesis of corpus callosum	OMIM:619488
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Optic nerve hyp...	OMIM:218600
1P36 Deletion Syndrome	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:1606
Focal Dermal Hypoplasia	Myelomeningocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Spina bifida occulta	OMIM:305600
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Mowat-Wilson Syndrome	Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ...	OMIM:235730
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:264090
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Thin corpus callosum	OMIM:606170
Femoral-Facial Syndrome	Encephalocele, Spina bifida, Agenesis of corpus callosum	OMIM:134780
Wiedemann-Rautenstrauch Syndrome	Polymicrogyria, Abnormal corpus striatum morphology, Agenesis of corpus callosum, Cerebellar hypo...	ORPHA:3455
Coffin-Siris Syndrome 1	Hypoplasia of the corpus callosum, Microcephaly, Spina bifida occulta, Partial agenesis of the co...	OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ...	ORPHA:261537
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Microcephaly, Simplified g...	OMIM:220111
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum	OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Focal cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus ...	ORPHA:2152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:93271
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cer...	OMIM:216340
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374

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 Fezf2

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 Fezf2.

No publications found that use IMPC mice or data for Fezf2.

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
Fezf2^{tm368595(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fezf2^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Fezf2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fezf2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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