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Gene: Arfgef1 MGI:2442988

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Gene Summary

Name:
ADP ribosylation factor guanine nucleotide exchange factor 1
Synonyms:
D130059B05Rik,  BIG1,  ARFGEP1,  D730028O18Rik,  P200

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin concentration Arfgef1em1(IMPC)Hmgu HET   Early adult 7.94×10-05
decreased locomotor activity Arfgef1em1(IMPC)Hmgu HET   Early adult 3.58×10-06
preweaning lethality, complete penetrance Arfgef1em1(IMPC)Hmgu HOM   Early adult 0.000100

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Arfgef1 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.

The table below shows human diseases associated to Arfgef1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
OMIM:619964

The table below shows human diseases predicted to be associated to Arfgef1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Per... ORPHA:300573
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... ORPHA:171703
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Lissencephaly 3
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray... OMIM:611603
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Pachygyr... ORPHA:572013
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Hypoplasia of the pons, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly OMIM:618276
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... ORPHA:300570
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... OMIM:300067
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... OMIM:619302
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:618325
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Microcephaly, Hypoplastic anterio... ORPHA:171680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Agenesis of cerebellar vermis, Ventriculomegaly, Hypoplasia of the pon... OMIM:613153
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... OMIM:618286
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... OMIM:615771
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Stxbp1-Related Encephalopathy
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... OMIM:607596
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral pattern, Cerebral a... OMIM:618492
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Cerebellar hypoplasia, Hypoplasia of the corpus cal... OMIM:617090
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysph... ORPHA:2524
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... OMIM:304100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary ... OMIM:618266
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenes... OMIM:619301
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Agenesis of corp... OMIM:605899
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... ORPHA:255182
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Craniotelencephalic Dysplasia
Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis o... OMIM:218670
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of t... ORPHA:488635
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Death in childhood, Lateral ... OMIM:619517
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Periventricular cysts, Simplified gyral pattern, Abnormal cerebra... OMIM:617668
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ... ORPHA:77299
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen... OMIM:614833
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Progressive leukoencephalo... OMIM:615889
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly... OMIM:616034
Central Neurocytoma
Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... OMIM:616342
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation ORPHA:101071
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... OMIM:616900
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... OMIM:615095
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... OMIM:620001
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... OMIM:618736
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Chia... OMIM:207950
Microhydranencephaly
Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Se... OMIM:605013
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular heterotopia, Periventricular cysts, Cerebellar hypoplasia, Hypo... ORPHA:255138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Microcephaly, Cerebellar gliosis, Partial agenesis of the corpus callosum, Cere... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Patent ductu... OMIM:617751
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Craniosynostosis 6
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... OMIM:616602
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu... ORPHA:370959
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Partial agenesis of the corpus callosum, Myelo... ORPHA:101030
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:164180
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcepha... OMIM:617281
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,... ORPHA:488627
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... OMIM:614219
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... OMIM:619103
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Periventricular nodular heterotopia, Secondary microcephaly, Perivent... OMIM:619737
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus cal... OMIM:218350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus ... ORPHA:357058
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... ORPHA:284417
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h... OMIM:615219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly OMIM:618731
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Polymicrog... OMIM:225790
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... OMIM:613154
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... OMIM:618291
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Periventricular heterotopia, Aggressive behavior, Hydrocephalus, Self-injurious beh... OMIM:619833
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,... OMIM:617669
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenes... ORPHA:99742
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Cerebellar hypoplasia, Agen... OMIM:615249
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Vent... OMIM:614643
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia ... OMIM:619179
Cach Syndrome
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Abnormal pons morphology, Dysgyria, Lateral v... ORPHA:135
Joubert Syndrome 3
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... OMIM:619244
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... ORPHA:2148
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... ORPHA:208447
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Patent ductus arteriosus, Hyp... OMIM:616975
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:618810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Death in infancy, Microcephaly, Partial ab... OMIM:613150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Death in childhood, Dysplastic corpus callosum, Microcephaly OMIM:604273
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood OMIM:619423
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bruxism, Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Intellectual Developmental Disorder, Autosomal Dominant 56
Impulsivity, Pontocerebellar atrophy, Lateral ventricle dilatation, Secondary microcephaly, Atten... OMIM:617854
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age... OMIM:620352
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... ORPHA:565624
Microcephaly 20, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebral cortex, Cerebellar hyp... OMIM:617914
Halperin-Birk Syndrome
Pseudobulbar paralysis, Colpocephaly, Death in childhood, Agenesis of corpus callosum, Ventriculo... OMIM:618651
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ... ORPHA:314679
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Patent ductus arteriosus, Gray matter heterotopia, Lateral ... OMIM:617397
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Hypoplasia of the corpus callosum OMIM:610015
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Polymicrogyria ORPHA:2328
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... OMIM:618606
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation OMIM:618330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... OMIM:620075
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Periventricular heterotopia, Micr... OMIM:619895
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum... ORPHA:397715
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Periventricular heterotopia, Lateral ventricle dilatation, Hypoplasia of the corpus... OMIM:614105
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia... OMIM:618820
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, ... ORPHA:572798
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Slc35A2-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atr... ORPHA:356961
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation, Agenesis of corpus cal... OMIM:609053
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand... ORPHA:3078
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv... ORPHA:261552
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Dysphagia, Prim... OMIM:619847
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Patent ductus arteriosus, Hydrocephalus, Lateral ventricle dilatation, Agenesis o... OMIM:612863
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microc... OMIM:620113
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Ventriculomegaly ORPHA:363444
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Malan Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation ORPHA:420179
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation, Hypopla... ORPHA:2822
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventricu... ORPHA:261250
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Dilated third ventricle, Partial agenes... OMIM:304050
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ventric... OMIM:619575
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Patent ductus arteriosus, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis... OMIM:617260
Distal Deletion 10Q
Microcephaly, Aggressive behavior, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebe... ORPHA:96148
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Abn... ORPHA:457279
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Death in infancy, Macrogyria, Death in adolescence, Colpocephaly, Cerebellar ... OMIM:614866
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Latera... ORPHA:263487
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Patent ductus arteriosus, Colpocep... OMIM:301043
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Abnormal... ORPHA:75857
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... OMIM:210710
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Microcephaly, Death in adolescence, Lateral ventricle dilatation, Secondary mic... OMIM:619229
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... ORPHA:1855
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Bainbridge-Ropers Syndrome
Death in infancy, Microcephaly, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia... OMIM:615485
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric... OMIM:611209
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood OMIM:612301
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Microcephaly, Colpo... OMIM:618460
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Aggressive behavior, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ... ORPHA:464738
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Death in infancy, Diffuse cerebral atrophy, Hyperactivity, Periventricular he... OMIM:270400
Weaver Syndrome
Absent septum pellucidum, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypo... OMIM:277590
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum... OMIM:618367
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Patent ductus arteriosus, Thick cor... OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Patent ductus arteriosus after birth at term, Simpl... ORPHA:500150
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Zttk Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Abnormal cerebral white matter morphology, ... OMIM:617140
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, L... OMIM:619869
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Absent septum pellucidum, Microcephaly, Patent ductus arteriosus, Abnormal cere... OMIM:300868
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Prader-Willi Syndrome Due To Translocation
Microcephaly, Patent ductus arteriosus, Head-banging, Lateral ventricle dilatation, Compulsive be... ORPHA:177907
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Aggressive behavior, Dysplastic corpus callosum, Patent ductus arteriosus, Chiari type I malforma... ORPHA:466791
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... ORPHA:477993
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia o... OMIM:619479
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Choreoacanthocytosis
Caudate atrophy, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, ... ORPHA:2388
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly OMIM:620083
Gabriele-De Vries Syndrome
Cortical dysplasia, Attention deficit hyperactivity disorder, Lateral ventricle dilatation OMIM:617557
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Aggressive behavior, Patent ductus arteriosus, Polymicrogyria, Hydrocephalus, Self-... OMIM:607872
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Pachygyria OMIM:263520
Witteveen-Kolk Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... OMIM:613406
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpu... OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o... OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261537
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation, Microcephaly OMIM:147920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Frontotemporal cerebral atrophy, La... OMIM:619534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
OMIM:619964

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 Arfgef1

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 Arfgef1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BIG1/Arfgef1 and Arf1 regulate the initiation of myelination by Schwann cells in mice. Science advances (April 2018) Arfgef1tm1a(EUCOMM)Hmgu PMC5938228

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arfgef1em1(IMPC)Hmgu Exon Deletion Mice
Arfgef1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arfgef1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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