banner
Genes Phenotypes Help, News, Blog

Gene: Fezf2 MGI:1859823

Log in to follow
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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
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
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Schizophrenia 15
Hyperactivity OMIM:613950
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... OMIM:611603
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation DECIPHER:8
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Short stature OMIM:300271
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
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... OMIM:618492
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Lissencephaly, X-Linked, 1
Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly OMIM:300067
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t... OMIM:619302
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Aggressive behavior, Abnorm... OMIM:614963
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:85179
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia OMIM:613668
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
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
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:620200
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum OMIM:618286
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:616570
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification, Motor tics OMIM:615483
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion, Severe shor... OMIM:619057
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... OMIM:304100
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition OMIM:618193
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ... ORPHA:171680
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysphagia OMIM:618317
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern OMIM:616540
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:467166
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
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
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:618766
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Autosomal Recessive Primary Microcephaly
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Hartnup Disorder
Hyperactivity, Short stature, Attention deficit hyperactivity disorder OMIM:234500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum OMIM:605899
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... ORPHA:255138
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... OMIM:615095
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Dysplastic corpus callosum, Short stature ORPHA:557003
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Cach Syndrome
T2 hypointense thalamus, Growth delay, Lateral ventricle dilatation, Dysphagia, Intrauterine grow... ORPHA:135
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... OMIM:600118
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors ORPHA:404440
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dysphagia ORPHA:1947
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walk... OMIM:164180
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Abnormal thalamus morphology, Attention deficit hyperactivity dis... ORPHA:435638
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ... ORPHA:79243
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... ORPHA:101030
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... OMIM:604360
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria OMIM:616342
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Lissencephaly 6 With Microcephaly
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... OMIM:616212
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph... ORPHA:561854
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o... ORPHA:168486
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
Microhydranencephaly
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Aggressive b... OMIM:615286
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618577
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:182230
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Aggressive behavior OMIM:615541
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... OMIM:617695
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... OMIM:619517
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly... OMIM:615249
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal... ORPHA:89844
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... OMIM:225790
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
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, Attention defic... OMIM:620141
Linear Skin Defects With Multiple Congenital Anomalies 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:300887
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, Holoprosencephaly ORPHA:2570
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:312170
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
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
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:157846
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Agenesis of corpus callosum, Microcephaly OMIM:619989
Holoprosencephaly 4
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip OMIM:142946
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia ORPHA:254930
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Short stature, Delayed puberty ORPHA:2959
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly ORPHA:466688
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short stature, Elevated circulating growth hormone concentration, Postnatal growth... OMIM:608747
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:218350
Frontonasal Dysplasia 1
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... OMIM:136760
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Microcephaly ORPHA:261519
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:616362
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:251056
Craniopharyngioma
Enlarged pituitary gland, Proportionate short stature, Neoplasm of the anterior pituitary, Postna... ORPHA:54595
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Agenesis of corpus callosum ORPHA:521308
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o... OMIM:617669
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly OMIM:618142
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Anorexia ORPHA:79139
Rhombencephalosynapsis
Fusion of the left and right thalami, Hydrocephalus ORPHA:59315
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Growth delay, Dysphagia, Intrauterine growth retardation,... ORPHA:506
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... OMIM:214150
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Hyperactivity, Aggressive behavior OMIM:612716
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:607131
Fg Syndrome 3
Agenesis of corpus callosum OMIM:300406
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Aggressive behavior ORPHA:83597
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Decreased thalamic volume, Short stature, Communicating hydrocephalus ORPHA:168577
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Meckel Syndrome 12
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... OMIM:616258
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... OMIM:253800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Panhypopituitar... OMIM:610828
Walker-Warburg Syndrome
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li... ORPHA:899
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2189
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:613001
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:238750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Agenesis of corpus callosum OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... OMIM:614643
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia OMIM:619074
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... OMIM:620352
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:452
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly ORPHA:2165
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the corpus callosum, Hyperin... ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618619
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:616239
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:845
Temtamy Syndrome
Agenesis of corpus callosum, Thick corpus callosum OMIM:218340
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... OMIM:616051
Baraitser-Winter Syndrome 1
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of t... OMIM:613150
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... OMIM:618929
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ... OMIM:609053
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... OMIM:620073
Braddock-Carey Syndrome 1
Agenesis of corpus callosum, Microcephaly OMIM:619980
Immunodeficiency 49
Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume OMIM:617237
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... ORPHA:220497
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Vici Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr... ORPHA:1493
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
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... OMIM:619720
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
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Hydrocephalus, Cerebellar hypoplasia, Hyperintensity of cerebral white ma... OMIM:618476
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholo... ORPHA:314621
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:238769
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:1446
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Marden-Walker Syndrome
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... OMIM:248700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... OMIM:301056
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:613735
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly ORPHA:139471
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... OMIM:615802
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Short stature ORPHA:2720
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Co... ORPHA:468631
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Agenesis of corpus callosum, Microcephaly OMIM:300004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... OMIM:236670
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... ORPHA:220493
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Microcephaly ORPHA:261144
Emanuel Syndrome
Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesi... ORPHA:96170
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th... ORPHA:3157
Desmosterolosis
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li... ORPHA:35107
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... OMIM:616449
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... ORPHA:157
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior ORPHA:85327
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... OMIM:264480
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:619435
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:261344
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb ORPHA:1827
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... OMIM:222448
Nizon-Isidor Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618872
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... ORPHA:96147
Intellectual Disability-Strabismus Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly ORPHA:363528
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:619312
Curry-Jones Syndrome
Agenesis of corpus callosum ORPHA:1553
Intellectual Developmental Disorder, Autosomal Recessive 65
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum OMIM:618109
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Birk-Landau-Perez Syndrome
Pachygyria, Agenesis of corpus callosum, Microcephaly OMIM:617595
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:617296
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... ORPHA:228308
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Microcephaly OMIM:612337
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... ORPHA:314679
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Poly... OMIM:619775
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp... OMIM:243605
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly OMIM:618651
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum ORPHA:1812
Mosaic Variegated Aneuploidy Syndrome 1
Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebral hypoplasia, Cerebella... OMIM:257300
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Microform Holoprosencephaly
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:280200
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:619148
Holoprosencephaly 14
Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Hydrocepha... OMIM:619895
Bohring-Opitz Syndrome
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:605039
Toriello-Carey Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:3338
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:261236
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:617260
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Calcification of falx c... OMIM:603671
Fumarase Deficiency
Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene... OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... OMIM:608836
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... ORPHA:464738
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Endocrine-Cerebroosteodysplasia
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... OMIM:612651
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... OMIM:301043
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Chromosome 14Q11-Q22 Deletion Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co... OMIM:613457
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:217980
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... OMIM:618500
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu... OMIM:619512
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Monosomy 13Q34
Agenesis of corpus callosum, Microcephaly ORPHA:96168
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:87
Desmosterolosis
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c... OMIM:602398
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Orofaciodigital Syndrome Type 5
Agenesis of corpus callosum, Microcephaly ORPHA:2919
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Alexander Disease
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca... ORPHA:58
Kleefstra Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:261494
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... ORPHA:457284
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis... OMIM:277170
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:250989
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:85201
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:96092
Sotos Syndrome
Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:117550
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic... OMIM:614866
Melas
Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c... ORPHA:550
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... OMIM:618820
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:300000
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
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Apert Syndrome
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... OMIM:101200
Marshall-Smith Syndrome
Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce... OMIM:602535
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum OMIM:618733
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Fryns Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation ORPHA:2059
Orofaciodigital Syndrome V
Agenesis of corpus callosum, Microcephaly OMIM:174300
Hartsfield Syndrome
Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... OMIM:615465
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... OMIM:304050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:847
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... ORPHA:2396
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... OMIM:311200
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Dysphagia ORPHA:2822
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly ORPHA:209905
Opitz Gbbb Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age... ORPHA:2745
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:227646
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... ORPHA:261552
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... OMIM:210710
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri... ORPHA:508498
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... OMIM:236100
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l... ORPHA:33364
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:93317
Microphthalmia, Syndromic 3
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:206900
Craniofrontonasal Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:304110
Marden-Walker Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ... ORPHA:2461
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu... OMIM:613884
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:242840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:619418
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microc... ORPHA:97297
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Trisomy 8P
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly ORPHA:264450
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Microcephaly OMIM:617478
Holoprosencephaly 9
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis... OMIM:610829
Meckel Syndrome, Type 1
Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebral hypoplasia, Cerebella... OMIM:249000
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... OMIM:615948
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
Jacobsen Syndrome
Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Spina bifida ORPHA:2308
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619194
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:363958
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus OMIM:300373
Coffin-Siris Syndrome
Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly ORPHA:1465
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2658
Myoectodermal Gonadal Dysgenesis Syndrome
Agenesis of corpus callosum OMIM:618419
Coffin-Siris Syndrome 4
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:614609
Acrocallosal Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... OMIM:270400
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Microgastria-Limb Reduction Defect Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration ORPHA:2538
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Restlessness ORPHA:68
Fryns Syndrome
Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-... OMIM:229850
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... OMIM:157170
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:264200
Histidinemia
Hyperactivity ORPHA:2157
Monosomy 9P
Agenesis of corpus callosum, Microcephaly ORPHA:261112
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:168558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida OMIM:619480
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly ORPHA:280
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:289548
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, A... OMIM:619841
Neu-Laxova Syndrome 1
Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes... OMIM:256520
Orofaciodigital Syndrome Type 1
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:2750
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:2556
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... OMIM:236680
Rubinstein-Taybi Syndrome 1
Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,... OMIM:180849
Ring Chromosome 13 Syndrome
Anencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:96176
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93924
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Hydrocephalus, Polymicrogyria, Leukoencephalopathy, Lateral ventricle dilatation, H... OMIM:607872
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Yunis-Varon Syndrome
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pach... ORPHA:3472
Gabriele-De Vries Syndrome
Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:506358
Wolf-Hirschhorn Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc... OMIM:194190
Norrie Disease
Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed puberty, Abnormality o... ORPHA:649
Orofaciodigital Syndrome Type 14
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W... ORPHA:434179
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum OMIM:618748
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... ORPHA:2273
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... ORPHA:95494
Simpson-Golabi-Behmel Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:373
Degcags Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:619488
Williams Syndrome
Short stature, Spina bifida occulta, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:904
Baller-Gerold Syndrome
Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymic... OMIM:218600
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... OMIM:235730
Focal Dermal Hypoplasia
Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
1P36 Deletion Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:1606
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Monosomy 22Q13.3
Agenesis of corpus callosum ORPHA:48652
Coffin-Siris Syndrome 1
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b... OMIM:135900
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpu... ORPHA:3455
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261537
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ... OMIM:220111
Peters-Plus Syndrome
Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:312870
Mowat-Wilson Syndrome
Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha... ORPHA:2152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:93271
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callo... 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
Fezf2tm368595(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fezf2em1(IMPC)Hmgu Exon Deletion Mice
Fezf2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fezf2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter