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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 (440 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, Agenesis of corpus callosum, Schizencephaly	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss...	OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria...	OMIM:610031
Chudley-Mccullough Syndrome	Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of t...	OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Agenesis of corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Polymicrogyria	ORPHA:171703
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce...	ORPHA:101029
Lissencephaly 3	Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl...	OMIM:611603
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity, Short stature	DECIPHER:19
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia	OMIM:600348
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the...	OMIM:608716
Lissencephaly 4	Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal...	OMIM:614019
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor...	ORPHA:250972
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, S...	OMIM:618492
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia...	OMIM:304100
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum	OMIM:617542
Lissencephaly, X-Linked, 1	Agyria, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300067
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis	OMIM:300864
Microcephaly 17, Primary, Autosomal Recessive	Microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Microlissencephaly, Agenesis of co...	OMIM:617090
Intellectual Developmental Disorder, Autosomal Recessive 54	Hyperactivity	OMIM:617028
Schizophrenia 15	Hyperactivity	OMIM:613950
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Agenesis o...	OMIM:218670
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Short stature	OMIM:616311
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:619302
Craniotelencephalic Dysplasia	Hydrocephalus, Microcephaly, Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Lisse...	ORPHA:1528
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia...	ORPHA:300573
Developmental And Epileptic Encephalopathy 88	Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi...	OMIM:618959
Growth Retardation, Small And Puffy Hands And Feet, And Eczema	Partial agenesis of the corpus callosum	OMIM:233810
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo...	ORPHA:255182
Microcephaly 16, Primary, Autosomal Recessive	Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum	OMIM:616681
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Growth delay, Severe short stature, Intrauterine growth re...	OMIM:619057
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Immunodeficiency 8	Hyperactivity	OMIM:615401
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st...	OMIM:614963
Masa Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619466
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Bowen Syndrome Of Multiple Malformations	Agenesis of corpus callosum	OMIM:211200
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Agenesis of corpus callosum, Cerebral atrophy	OMIM:600329
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum	OMIM:225040
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age...	OMIM:307000
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:612948
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum	ORPHA:166024
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:617669
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callo...	OMIM:619301
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	ORPHA:262767
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Short stature	OMIM:300271
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum, Arrhinencephaly	OMIM:300073
Insulin-Like Growth Factor I Deficiency	Intrauterine growth retardation, Hyperactivity, Short stature	OMIM:608747
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Agenesis of corpus callosum, Cerebral atrophy	OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type...	OMIM:613153
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology	ORPHA:397725
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum	OMIM:618766
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Holoprosencephaly 11	Microcephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:614226
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,...	OMIM:225790
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormality of thalamus morphology	OMIM:613724
Familial Congenital Mirror Movements	Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum	ORPHA:238722
Autosomal Recessive Primary Microcephaly	Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes	ORPHA:2512
Pyruvate Dehydrogenase E1-Beta Deficiency	Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr...	ORPHA:255138
Smith-Magenis syndrome	Hyperactivity, Short stature	DECIPHER:8
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Oculocerebrodental Syndrome	Abnormality of thalamus morphology, Dysplastic corpus callosum, Short stature	ORPHA:557003
Glycine Encephalopathy	Agenesis of corpus callosum	OMIM:605899
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:2508
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia	OMIM:607196
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit...	OMIM:615925
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of ...	OMIM:600118
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c...	OMIM:618736
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa...	ORPHA:300570
Lissencephaly Type Iii And Bone Dysplasia	Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Hypoplasia of the...	OMIM:601160
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal...	OMIM:604804
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Basal ganglia cysts, Cerebral atrophy, Agenesis of corpus callosum	OMIM:312170
Panhypophysitis	Adrenocorticotropic hormone deficiency, Polydipsia, Reduced circulating prolactin concentration, ...	ORPHA:95513
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ...	OMIM:164180
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Type II lissencephaly, Occ...	OMIM:615287
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Neuronal loss in the cerebral cortex, P...	ORPHA:168486
Microhydranencephaly	Microcephaly, Cerebellar hypoplasia, Pachygyria, Hydranencephaly, Agenesis of corpus callosum, Hy...	OMIM:605013
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum	OMIM:617127
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico...	OMIM:604360
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ...	OMIM:614833
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpus callosum	OMIM:616342
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Craniosynostosis 6	Microcephaly, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Abnor...	OMIM:616602
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormality of thalamus morphology, Attention deficit hyperactivity disorder	ORPHA:404440
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Dysphagia, T2 hypointense thalamus	ORPHA:1947
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Progressive microcephaly, Pachygyria, Agenesis of corpus callo...	ORPHA:561854
Subependymal Nodular Heterotopia	Myelomeningocele, Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplas...	ORPHA:101030
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
3P25.3 Microdeletion Syndrome	Abnormality of thalamus morphology, Attention deficit hyperactivity disorder	ORPHA:435638
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Intrauterine growth retardation, Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2570
Holoprosencephaly, Recurrent Infections, And Monocytosis	Microcephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:610680
Lissencephaly 6 With Microcephaly	Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c...	OMIM:616212
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the...	OMIM:618603
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation, Dysphagia, Growth delay, Intrauterine grow...	ORPHA:135
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,...	OMIM:615249
Imagawa-Matsumoto Syndrome	Agenesis of corpus callosum, Polymicrogyria	OMIM:618786
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro...	ORPHA:89844
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri...	OMIM:616819
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Intellectual Developmental Disorder, X-Linked 109	Intrauterine growth retardation, Hyperactivity, Short stature	OMIM:309548
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum	ORPHA:1496
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe...	ORPHA:86822
Amish Lethal Microcephaly	Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Spina bifida, Agenesis of corpus callosum	ORPHA:99742
Fraxe Intellectual Disability	Intrauterine growth retardation, Hyperactivity, Short stature	ORPHA:100973
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Microcephaly, Agenesis of corpus callosum	OMIM:615286
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Basal ganglia gliosi...	ORPHA:79243
Adenohypophysitis	Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui...	ORPHA:95512
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion, Dysphagia	ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum	OMIM:610498
Baraitser-Winter Syndrome 2	Pachygyria, Lissencephaly, Secondary microcephaly, Agenesis of corpus callosum	OMIM:614583
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin corpus callosum, Microcephaly, Partial agenesis of the corpus callosum	OMIM:619517
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Agenesis of corpus callosum	OMIM:600638
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Partial agenesi...	ORPHA:500144
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Occipital encephalocele, Hypoplasia of the p...	ORPHA:370959
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum	ORPHA:466688
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy	OMIM:207950
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Dysphagia, Growth delay, Abnormal thalamic MRI signal intensity	ORPHA:485421
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormality of thalamus morphology, Delayed puberty, Short stature	ORPHA:2959
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Holoprosencephaly 7	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef...	OMIM:610828
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage	OMIM:142946
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Agenesis of corpus callosum, Pericallosal...	OMIM:136760
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Leigh Syndrome With Cardiomyopathy	Dysphagia, Abnormality of thalamus morphology	ORPHA:70474
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Abnormal periven...	OMIM:618476
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum	OMIM:607131
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology	ORPHA:88619
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Neuroferritinopathy	Dysphagia, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus	ORPHA:157846
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Hydranencephaly	Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Thalamic edem...	ORPHA:2177
Intellectual Developmental Disorder, Autosomal Dominant 36	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:616362
Mental Retardation, Buenos Aires Type	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus	OMIM:249630
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia	ORPHA:254930
Craniopharyngioma	Growth delay, Enlarged pituitary gland, Hydrocephalus, Postnatal growth retardation, Abnormal hyp...	ORPHA:54595
6Q25 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:251056
Rhombencephalosynapsis	Hydrocephalus, Fusion of the left and right thalami	ORPHA:59315
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618142
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion	OMIM:619046
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Acromelic Frontonasal Dysostosis	Encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:603671
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Cerebrooculofacioskeletal Syndrome 1	Basal ganglia calcification, Microcephaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Agene...	OMIM:214150
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Leigh Syndrome	Abnormal thalamic MRI signal intensity, Dysphagia, Growth delay, Intrauterine growth retardation,...	ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301008
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh...	ORPHA:231720
Meckel Syndrome 12	Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:616258
Agenesis Of The Corpus Callosum And Congenital Lymphedema	Basal ganglia cysts, Agenesis of corpus callosum	OMIM:613623
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Hydrolethalus	Hydrocephalus, Absent septum pellucidum, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum	ORPHA:2189
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Thin corpus callosum, Partial agenesis of the corpus callosum	OMIM:619653
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume, Postnatal growth retardation, Communicating hydrocephalus, Short stature	ORPHA:168577
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly	ORPHA:990
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Pore...	OMIM:613001
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Encephalocele, Optic nerve hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Hypo...	OMIM:614643
Walker-Warburg Syndrome	Hydrocephalus, Macrogyria, Microcephaly, Cerebellar hypoplasia, Abnormal cortical gyration, Polym...	ORPHA:899
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:616239
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Simplified gyral pa...	OMIM:619244
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Polyphagia, Hyperactivity	OMIM:275000
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology	ORPHA:79139
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum	OMIM:619074
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Agenesis of corpus callosum	OMIM:218000
Isolated Arrhinia	Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent...	ORPHA:1134
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of corpus callosum, Agenesis of cerebellar vermis	ORPHA:228390
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2165
Arnold-Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia, Polymicrogyria, Partial...	ORPHA:1136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Encephalocele, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Type II l...	OMIM:253800
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Pachygyria, Agenesis of corpus callosum	ORPHA:452
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Agenesis of corpus callosum, Polymicrogyria	OMIM:601707
Fumarase Deficiency	Cerebral atrophy, Open operculum, Microcephaly, Polymicrogyria, Agenesis of corpus callosum, Hypo...	OMIM:606812
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Baraitser-Winter Syndrome 1	Microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:243310
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum	OMIM:300952
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Progressive microcephaly, Hyperin...	ORPHA:481152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo...	OMIM:613150
Joubert Syndrome With Renal Defect	Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus ca...	ORPHA:220497
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Vici Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypopl...	ORPHA:1493
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Primary microcephal...	OMIM:616051
Braddock-Carey Syndrome 1	Microcephaly, Agenesis of corpus callosum	OMIM:619980
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Small cerebral cortex, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida occulta, Per...	OMIM:617360
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
1Q44 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Microcephaly, Cerebellar vermis hypoplasia, Thin corpus callosum, Agen...	OMIM:619720
Ring Chromosome 22 Syndrome	Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:1446
Temtamy Syndrome	Agenesis of corpus callosum	OMIM:218340
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Marden-Walker Syndrome	Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenesis of corpus ca...	OMIM:248700
Meningioma	Enlarged pituitary gland, Hydrocephalus, Reduced circulating prolactin concentration, Hypothalami...	ORPHA:2495
Microgastria-Limb Reduction Defects Association	Agenesis of corpus callosum, Fusion of the left and right thalami, Arrhinencephaly	OMIM:156810
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure	OMIM:616975
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Severe intrauterine growth retardation, Hyperactivity, Short stature, Severe postnatal growth ret...	ORPHA:73272
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon, Short stature	ORPHA:2720
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, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M...	ORPHA:468631
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Agenesis of corpus callosum, Inferior cerebellar vermis hypoplasia	ORPHA:139471
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Agenesis of corpus callosum	ORPHA:261144
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Tay-Sachs Disease	Dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:845
Joubert Syndrome With Ocular Defect	Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus ca...	ORPHA:220493
Emanuel Syndrome	Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cerebral white matter morphology, Agenesi...	ORPHA:96170
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Desmosterolosis	Hydrocephalus, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyration,...	ORPHA:35107
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Agenesis of corpus callosum	OMIM:300004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypop...	OMIM:236670
Carnitine Palmitoyltransferase Ii Deficiency	Abnormal basal ganglia morphology, Hydrocephalus, Cerebral calcification, Polymicrogyria, Cerebel...	ORPHA:157
Pseudotrisomy 13 Syndrome	Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Encephaloc...	OMIM:264480
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Isolated Exencephaly	Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly	ORPHA:563612
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Probst bundles, Agenesis of corpus callosum	OMIM:612863
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:619435
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, ...	OMIM:615802
Septo-Optic Dysplasia Spectrum	Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Septo-opt...	ORPHA:3157
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr...	OMIM:619103
Intellectual Disability-Strabismus Syndrome	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	ORPHA:363528
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Agenesis of corpus callos...	ORPHA:96147
Radio-Tartaglia Syndrome	Microcephaly, Agenesis of corpus callosum	OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum	OMIM:612337
Acromelic Frontonasal Dysplasia	Encephalocele, Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Meningocele	ORPHA:1827
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal basal ganglia morphology, Hydrocephalus, Cerebral calcification, Polymicrogyria, Cerebel...	ORPHA:228308
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Microcephaly, Cerebral cortical atrophy	OMIM:234050
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hy...	ORPHA:314679
Stromme Syndrome	Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cerebellar vermis hyp...	OMIM:243605
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly	OMIM:618651
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Poly...	OMIM:619775
Birk-Landau-Perez Syndrome	Microcephaly, Pachygyria, Agenesis of corpus callosum	OMIM:617595
Microform Holoprosencephaly	Microcephaly, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:280200
Chromosome 13Q33-Q34 Deletion Syndrome	Microcephaly, Anencephaly, Encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:619148
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum	ORPHA:1812
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malfor...	OMIM:605039
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:617260
16P13.11 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:261236
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum	OMIM:618929
Holoprosencephaly 14	Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Microcephaly, Pa...	OMIM:619895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Basal ganglia cysts, Microcephaly, Polymicrogyria, Intracerebral periventricular calcifications, ...	OMIM:608836
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Duplication Of The Pituitary Gland	Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Encephalocele	ORPHA:314621
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy	OMIM:617296
Thakker-Donnai Syndrome	Agenesis of corpus callosum, Communicating hydrocephalus	ORPHA:1780
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Hypoplasia of the corpus callosum, Later...	ORPHA:464738
Mosaic Trisomy 1	Cerebellar hypoplasia, Polymicrogyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia...	ORPHA:1692
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Optic nerve hypoplasia, Microcephaly, Septo-optic dysplasia, Semilobar ...	OMIM:301043
Mosaic Variegated Aneuploidy Syndrome 1	Cerebral hypoplasia, Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hypodysplasia of the cor...	OMIM:257300
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:217980
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum	ORPHA:96168
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hydrocephalus, Aqueductal stenosis, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, ...	OMIM:619512
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:556955
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Vici Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Schizencephaly	OMIM:242840
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopontocerebellar hy...	ORPHA:457284
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Kleefstra Syndrome	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:261494
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Alexander Disease	Hydrocephalus, Aqueductal stenosis, Cerebral calcification, Megalencephaly, Agenesis of corpus ca...	ORPHA:58
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Genitopatellar Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:85201
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Hyperactivity	ORPHA:85327
Pyruvate Carboxylase Deficiency	Basal ganglia gliosis, Cerebral white matter atrophy, Periventricular cysts, Hyperintensity of ce...	ORPHA:3008
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Melas	Cerebral cortical atrophy, Basal ganglia calcification, Aplasia/Hypoplasia of the cerebral white ...	ORPHA:550
1Q21.1 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Opitz Gbbb Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:300000
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum	OMIM:117550
21Q22.11Q22.12 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:261323
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Holoprosencephaly, Agenesis of corpus callosum, Polymicrogyria, Secon...	OMIM:618820
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:847
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Fryns Syndrome	Cerebral cortical atrophy, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2059
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Cerebral atrophy, Cerebral calcification, Agenesis of corpus callosum,...	ORPHA:2396
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cortical gyration, Pore...	OMIM:311200
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum	OMIM:174300
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Microcephaly, Agenesis of corpus callosum	ORPHA:209905
Apert Syndrome	Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Megalencephaly, Agenesis of corpu...	OMIM:101200
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Marshall-Smith Syndrome	Hydrocephalus, Cerebral atrophy, Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of co...	OMIM:602535
Fanconi Anemia, Complementation Group D2	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:227646
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Hartsfield Syndrome	Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Hypoplastic anterior co...	ORPHA:261552
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia of the corpus callosum, Age...	ORPHA:2745
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
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, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Periventri...	ORPHA:508498
Aicardi Syndrome	Cavum septum pellucidum, Microcephaly, Polymicrogyria, Partial agenesis of the corpus callosum, C...	OMIM:304050
Trichothiodystrophy	Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Partial agenesis of the corpus ...	ORPHA:33364
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:206900
Marden-Walker Syndrome	Hydrocephalus, Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Autosomal Recessive Spastic Paraplegia Type 11	Dysphagia, Lateral ventricle dilatation, Hypothalamic atrophy	ORPHA:2822
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Holopro...	OMIM:613884
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619418
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Bohring-Opitz Syndrome	Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus ca...	ORPHA:97297
Trisomy 8P	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Agenesis of corpus callosum	OMIM:151050
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
Microgastria-Limb Reduction Defect Syndrome	Arrhinencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Facial Dysmorphism With Multiple Malformations	Hydrocephalus, Agenesis of corpus callosum	OMIM:227255
Meckel Syndrome, Type 1	Cerebral hypoplasia, Hydrocephalus, Microcephaly, Anencephaly, Cerebellar hypoplasia, Occipital e...	OMIM:249000
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Microcephaly, Abnormal cortical gyratio...	OMIM:610829
Jacobsen Syndrome	Pachygyria, Spina bifida, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	ORPHA:352665
Aicardi Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Partial agenesis of the corpu...	ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Agenesis of corpus callosum, Pericallosal lipoma	ORPHA:306542
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Cerebellar hypoplasia, Agenesis of corpus c...	OMIM:236100
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta	OMIM:300373
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Coffin-Siris Syndrome	Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:1465
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Hydrolethalus Syndrome 1	Absent septum pellucidum, Anencephaly, Arrhinencephaly, Abnormal cortical gyration, Severe hydroc...	OMIM:236680
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Agenesis of corpus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Agenesis of corpus ...	ORPHA:363958
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Neu-Laxova Syndrome 1	Spina bifida, Microcephaly, Cerebellar hypoplasia, Lissencephaly, Hydranencephaly, Agenesis of co...	OMIM:256520
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Holoprosencephaly, Microcephaly, Hypoplasia of th...	OMIM:270400
Fryns Syndrome	Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tract, Agenesis of corpus...	OMIM:229850
Holoprosencephaly 2	Alobar holoprosencephaly, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Semilobar holop...	OMIM:157170
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypoplasia of the frontal lobes, Microcephaly, Agenesis of cerebellar vermis, Pachygyria, Agenesi...	OMIM:210710
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Microphthalmia With Linear Skin Defects Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2556
Wolf-Hirschhorn Syndrome	Microcephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum	ORPHA:280
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymicrogyria	OMIM:218600
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thin corpus callosum, Partial agenesis of the corpus callosum, Spina bifida	OMIM:619480
Monosomy 9P	Microcephaly, Agenesis of corpus callosum	ORPHA:261112
Chilton-Okur-Chung Neurodevelopmental Syndrome	Microcephaly, Communicating hydrocephalus, Cerebellar vermis hypoplasia, Septo-optic dysplasia, A...	OMIM:619841
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Rubinstein-Taybi Syndrome 1	Microcephaly, Spina bifida occulta, Hyperintensity of cerebral white matter on MRI, Spina bifida,...	OMIM:180849
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect	ORPHA:93924
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Yunis-Varon Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Arrhinencephaly, Cerebellar hypoplasia, Primary m...	ORPHA:3472
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Hydrocephalus, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the co...	OMIM:607872
Combined Pituitary Hormone Deficiencies, Genetic Forms	Holoprosencephaly, Absent septum pellucidum, Optic nerve hypoplasia, Septo-optic dysplasia, Agene...	ORPHA:95494
Orofaciodigital Syndrome Type 14	Open operculum, Microcephaly, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c...	ORPHA:434179
Wolf-Hirschhorn Syndrome	Hydrocephalus, Absent septum pellucidum, Cavum septum pellucidum, Microcephaly, Periventricular c...	OMIM:194190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Cerebellar hypoplasia, Ag...	ORPHA:2273
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Agenesis of corpus callosum	ORPHA:226307
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Degcags Syndrome	Microcephaly, Agenesis of corpus callosum	OMIM:619488
Focal Dermal Hypoplasia	Myelomeningocele, Hydrocephalus, Microcephaly, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
1P36 Deletion Syndrome	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:1606
Mowat-Wilson Syndrome	Large basal ganglia, Aplasia/Hypoplasia of the cerebral white matter, Microcephaly, Hypoplasia of...	OMIM:235730
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology	ORPHA:68
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Williams Syndrome	Attention deficit hyperactivity disorder, Abnormality of the diencephalon, Spina bifida occulta, ...	ORPHA:904
Coffin-Siris Syndrome 1	Microcephaly, Spina bifida occulta, Hypoplasia of the corpus callosum, Partial agenesis of the co...	OMIM:135900
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Abnormal corpus striatum morphology, Cerebellar hypoplasia, Polymicrogyria, Agenes...	ORPHA:3455
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Cerebellar hypoplasia, ...	ORPHA:261537
Norrie Disease	Attention deficit hyperactivity disorder, Abnormality of the diencephalon, Delayed puberty	ORPHA:649
Histidinemia	Hyperactivity	ORPHA:2157
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy	OMIM:261540
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig	Agenesis of corpus callosum	OMIM:218649
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Mowat-Wilson Syndrome	Focal white matter lesions, Large basal ganglia, Microcephaly, Hypoplasia of the corpus callosum,...	ORPHA:2152
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Microcephaly, Arrhinencephaly, Hypoplasia of the corpus callosum...	OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia	Hydrocephalus, Occipital encephalocele, Agenesis of corpus callosum	OMIM:164210

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.

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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

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