Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Arfgef1em1(IMPC)Hmgu HOM   Early adult 0.000100
decreased locomotor activity Arfgef1em1(IMPC)Hmgu HET   Early adult 3.80×10-06
increased mean corpuscular hemoglobin concentration Arfgef1em1(IMPC)Hmgu HET   Early adult 7.94×10-05

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Viewing: all phenotypes

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... 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
Anemia, Abnormal hemoglobin ORPHA:231249
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... 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
Abnormality of the anterior commissure, Hypoplasia of the pons, 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
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Compulsi... ORPHA:500166
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Cerebellar atrophy, Lateral ventri... ORPHA:300573
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Unilateral polym... OMIM:610031
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... ORPHA:171703
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotop... 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
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... OMIM:614039
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Dysphagia, Pachygyria, Thin corpus callosum, Motor stereoty... ORPHA:572013
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy, Hypoplasia of the pons OMIM:618276
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly... ORPHA:300570
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... OMIM:300067
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
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... OMIM:618325
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hyd... OMIM:619301
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar... OMIM:613153
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Partial agen... OMIM:619302
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, ... ORPHA:171680
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... OMIM:618286
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated four... OMIM:615771
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Isolated Corpus Callosum Agenesis
Dysphagia, Agenesis of corpus callosum ORPHA:200
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity ORPHA:599373
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hypoplas... OMIM:607596
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus... OMIM:618492
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... ORPHA:2185
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Ventriculomegaly, Oral-pharyngeal dysph... ORPHA:2524
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cereb... OMIM:304100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Death in infancy, Cerebellar... OMIM:618266
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypo... OMIM:617090
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Inappropriate behavior, Basa... OMIM:221770
Glycine Encephalopathy 1
Death in infancy, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, ... OMIM:605899
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A... ORPHA:255182
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy, Hypoplasia of t... ORPHA:488635
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Lateral ventricle dilatation, Death in childhood, Abnormal dentate nucleus morpholo... OMIM:619517
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy, Cerebral dysmyelination OMIM:252650
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, ... ORPHA:77299
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Death in infancy,... OMIM:617668
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Cerebellar atrophy, Lateral ventricle dilatation, Periventricular leukomalac... OMIM:615889
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Death in childhood, Hypoplasia of the cor... OMIM:616034
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Neonatal death, Agenesis of corpus callosum, Microcephaly, Cerebellar hypoplasi... OMIM:616342
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr... OMIM:614833
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal p... OMIM:616900
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Gray matter he... OMIM:617622
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus ca... OMIM:615095
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Microcephaly, Dysphagia, Simplified gyr... OMIM:620001
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep... OMIM:207950
Microhydranencephaly
Hydranencephaly, Ventriculomegaly, Self-mutilation, Agenesis of corpus callosum, Cerebellar hypop... OMIM:605013
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Micro... ORPHA:2512
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular heteroto... ORPHA:255138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... OMIM:620315
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... ORPHA:370959
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin... OMIM:616602
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal ... ORPHA:101030
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Gray matte... OMIM:164180
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati... OMIM:617281
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar malformation, Dilated fourth ven... ORPHA:357058
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m... OMIM:218350
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, Aggressive behavior, Overfriendliness OMIM:618010
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... OMIM:614219
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Gray ma... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular nodular heterotopia, Dysplastic corpus callosum, Perivent... OMIM:619737
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Cerebellar atrophy, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corp... OMIM:619103
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ce... ORPHA:284417
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypopl... OMIM:225790
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Lateral ventricle dila... OMIM:618291
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Death in infancy, Agenesis of corpus callosum, Mi... ORPHA:99742
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis atrophy, Dy... ORPHA:135
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... OMIM:613154
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum,... OMIM:617669
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Periventricular heterotopia, Periventricular leukomala... OMIM:619833
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Progress... OMIM:615249
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the corpus callosum, Stereotypical hand wringing, Dysplastic corp... OMIM:619179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum,... OMIM:614643
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Cerebellar hypoplasia, Neonatal death OMIM:618810
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Diffuse white matter abnormalities, Lateral ventricle dilatation, Oral-p... ORPHA:208447
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of th... OMIM:616975
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Death in childhood OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Death in infancy, A... OMIM:613150
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Periventricular c... ORPHA:544488
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Di... OMIM:607485
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy OMIM:619423
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Bruxism OMIM:615716
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... OMIM:620352
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Abnormal cer... ORPHA:565624
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Pontocerebellar atrophy, Attention deficit ... OMIM:617854
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... OMIM:617914
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Pseudobulbar paralysis, Death in childhood, Agenes... OMIM:618651
Cerebrofacioarticular Syndrome
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus... ORPHA:314679
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Cerebella... OMIM:617397
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of... OMIM:618606
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death OMIM:610015
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Patent ductus arteriosus OMIM:618330
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Reduced cerebral white matter volume, Lateral ventricle dilatation, Pari... OMIM:620075
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... ORPHA:397715
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Abse... OMIM:619895
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
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
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume OMIM:616943
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o... OMIM:618820
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ... ORPHA:572798
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... OMIM:614105
Slc35A2-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus call... ORPHA:356961
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... OMIM:618914
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F OMIM:617101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Agenesis of cerebellar vermis, ... OMIM:615287
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Fanconi Anemia, Complementation Group I
Chiari malformation, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpoce... OMIM:609053
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Microcephaly, Dand... ORPHA:3078
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... OMIM:619847
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Enlarged c... ORPHA:261552
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callosum, Hydrocephalus, Patent ... OMIM:612863
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum OMIM:618569
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... OMIM:620113
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Reduced cerebral white matter volume, Dilated third ventricle, Lateral ventricle... OMIM:620371
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Patent ductus arteriosus ORPHA:363444
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum ORPHA:420179
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... OMIM:619575
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Colpocephaly, D... ORPHA:261250
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... OMIM:617260
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... OMIM:617296
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Micro... ORPHA:96148
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Aggr... ORPHA:457279
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Diffuse cerebral atrophy, Cerebral white matter... ORPHA:263487
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:301043
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Polymicrogyria, Cerebellar vermis atrophy, Death in infancy, Agenesis of corp... OMIM:614866
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t... ORPHA:75857
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Cerebral hypoplasia, Lateral ventricle ... OMIM:210710
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... OMIM:151050
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Stereotypical hand wringi... OMIM:619229
Spondyloenchondrodysplasia
Ventriculomegaly, Cerebral calcification, Abnormal periventricular white matter morphology, Abnor... ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,... OMIM:611209
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... ORPHA:293725
Bainbridge-Ropers Syndrome
Self-injurious behavior, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Rec... OMIM:615485
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus OMIM:309801
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood OMIM:612301
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... ORPHA:1692
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:464738
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Patent ductus arteriosus after premature birth, M... OMIM:618460
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Absent septum pellucidum, Cerebellar hypoplasia, ... OMIM:277590
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the corpus callosum, Hypoplasia of... OMIM:270400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly... OMIM:618367
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Aggressive behavior, Cerebellar hypoplasia, Thick corpus callosum, Pa... OMIM:300967
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Dilated fourth ventricle, Hypoplasia ... OMIM:619869
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal cerebral cortex morphology, Progressive ventriculomegaly, Ventriculomegaly, Lateral vent... ORPHA:500150
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... OMIM:619487
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Zttk Syndrome
Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... OMIM:617140
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Absent septum pe... OMIM:300868
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, ... ORPHA:177907
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive... ORPHA:466791
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum, Cerebral white matter hypoplasia, Hypoplasia of the corpus cal... ORPHA:477993
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Hypoplasia o... OMIM:619479
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
Choreoacanthocytosis
Self-injurious behavior, Cerebral cortical atrophy, Phonic tics, Head-banging, Lateral ventricle ... ORPHA:2388
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Microcephaly, Colpocephaly, Cerebellar vermis hypoplasia OMIM:620083
Gabriele-De Vries Syndrome
Cortical dysplasia, Attention deficit hyperactivity disorder, Lateral ventricle dilatation OMIM:617557
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal corpus callosum morphology, Chiari malformation, Abnormal fear-... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal corpus callosum morphology, Chiari malformation, Abnormal fear-... ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Opp... OMIM:607872
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:263520
Witteveen-Kolk Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Ag... OMIM:613406
Genitopatellar Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria,... OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar hyp... OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ... ORPHA:261537
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Kabuki Syndrome 1
Microcephaly, Lateral ventricle dilatation, Hydrocephalus OMIM:147920
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Neonatal death, Hydrocephalus, Aqu... 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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