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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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
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

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