Gene Summary

Name:
plexin A2
Synonyms:
PlexA2,  Plxn2,  2810428A13Rik,  OCT

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
increased mean corpuscular hemoglobin Plxna2tm1a(EUCOMM)Wtsi HOM Early adult 9.63×10-05

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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

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 69 images

Human diseases caused by Plxna2 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 Plxna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band heterotopia, Lissencepha... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria, Megalencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Lissencephaly, Pachy... OMIM:615411
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia... ORPHA:1083
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Abnormal cerebellum morphology, Microcephaly... ORPHA:329228
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Gray matter heterotopia, Microcephaly, Lisse... OMIM:604317
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia,... OMIM:604213
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia, Cerebellar vermis atrophy ORPHA:211017
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Cerebellar hypoplasia, Inability to walk, Ataxia, Pachygyria OMIM:618174
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Inability to walk, Spastic paraplegia, Periventricular nodular heterotopia OMIM:618572
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Cerebellar Ataxia, Cayman Type
Intention tremor, Cerebellar hypoplasia, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Ataxia, Lissencephaly, Pachygyria, Spasticity OMIM:300067
Microcephaly 9, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:614852
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:615957
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Simplified gyral... OMIM:614019
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Spastic tetraplegia, Cerebellar hypoplasia, Lissencephaly, Hypoplasia of the pons, Periventricula... OMIM:618677
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait OMIM:617133
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Polymicrogyria, Ataxia OMIM:615771
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Truncal ataxia, Cerebellar atrophy, Inability to walk OMIM:615268
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the ... OMIM:618730
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Subcortical band heterotopia OMIM:600348
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal cerebra... ORPHA:352682
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... ORPHA:363710
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Spasticity, Pachygyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Simplified gyral pattern,... OMIM:224050
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Abnormal corpus callosum morphology, Abnormality of neuronal migration, Cortical dy... OMIM:618709
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:617770
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus, Cerebellar vermis hypoplasia OMIM:618876
Joubert Syndrome 24
Dysmetria, Cerebellar hypoplasia, Ataxia, Pachygyria, Spasticity, Gait disturbance, Polymicrogyria OMIM:616654
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... ORPHA:314978
Lissencephaly 5
Porencephalic cyst, Gray matter heterotopia, Subcortical band heterotopia, Cerebellar hemisphere ... OMIM:615191
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Small cerebral cortex OMIM:604804
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Intention tremor, Brady... ORPHA:98762
Lissencephaly 2
Cerebellar hypoplasia, Microcephaly, Lissencephaly, Thick cerebral cortex, Hypoplasia of the pons... OMIM:257320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, B... OMIM:610357
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Symmetrical Thalamic Calcifications
Ataxia, Spasticity, Abnormality of neuronal migration, Hypertonia ORPHA:1314
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb... OMIM:610245
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... OMIM:607346
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Frequent falls, Cerebellar cyst, Gray matter heterotopia, Pachygyria, Tip-toe... ORPHA:370980
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia OMIM:615217
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Intellectual Developmental Disorder, Autosomal Dominant 13
Spastic tetraplegia, Cerebellar hypoplasia, Pachygyria, Gait disturbance, Abnormality of neuronal... OMIM:614563
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Polymicrogyria, Bilateral Frontoparietal
Hypertonia, Dysmetria, Cerebellar hypoplasia, Perisylvian polymicrogyria, Frontal polymicrogyria,... OMIM:606854
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Parkinsonism, Fasciculations, Progressive cerebellar ... ORPHA:98756
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Oculomo... OMIM:615960
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Cerebellar atrophy, Tetraplegia, Ataxia OMIM:616267
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... ORPHA:208513
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Microcephaly, Lissencephaly, Partial agenesis of... OMIM:616212
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:614229
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... ORPHA:2512
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Ataxia, Gait disturbance, Gait ataxia, Li... OMIM:617145
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Brain Small Vessel Disease 2
Schizencephaly, Polymicrogyria, Porencephalic cyst, Subcortical heterotopia OMIM:614483
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemiparesis, Abnormality of neuronal migr... ORPHA:65
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Babinski sign, Pachygyria, Abnormality of neuronal migration OMIM:608840
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Primary microcephaly, Hy... ORPHA:89844
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria OMIM:619602
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dyspl... OMIM:617622
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Ataxia, Gait disturbance, Babinski sign OMIM:612020
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Absent septum pellucidum, Arrh... OMIM:218670
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Spasticity, Gait disturbance, Abnor... OMIM:300957
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Gray matter heterotopia, Partial agenesis of the corpus callosum, Polym... ORPHA:101030
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular hetero... ORPHA:255138
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Cerebral Palsy, Spastic Quadriplegic, 3
Abnormal pyramidal sign, Spastic tetraplegia, Gray matter heterotopia, Spasticity, Spastic diplegia OMIM:617008
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Periventricular nodular heterotopia, Blepharospasm, Ataxia, Limb myoclonus, G... ORPHA:352582
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Cerebellar cyst, Cerebellar hypoplasia, Hy... ORPHA:370959
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dysarthria, ... ORPHA:98760
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Cerebellar hypoplasia, Anencephaly, Gray matter heterotopia, Dandy-W... OMIM:615287
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of th... OMIM:164180
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lis... ORPHA:899
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Chiari Malformation Type Ii
Ataxia, Opisthotonus, Chiari malformation, Gray matter heterotopia OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Subcortical heterotopia, Cerebellar hypoplasia, Gray matter heterotopia, Partial agenesis... OMIM:614643
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Neurocutaneous Melanocytosis
Chiari malformation, Dandy-Walker malformation, Hemiparesis, Aplasia/Hypoplasia of the cerebellum... ORPHA:2481
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spastic tetraplegia, Cerebellar hypoplasia, Periventricular heterotopia, Ataxia, Rigidity, Spasti... OMIM:618476
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Oculomotor apraxia, Polymicrogyria, Abnor... ORPHA:475
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Retrocerebellar cyst, Hypopituitarism, Periventricular nodular heter... OMIM:603671
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Hypertonia ORPHA:2518
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Stereotypical hand wringing, Lower limb spasticity, Ataxia, Cerebral p... ORPHA:163681
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Colpocephaly, Gray matter heterotopia OMIM:615219
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Perisylvian predominant thick cortex pachygyria, Dysmetria, Bilateral peris... ORPHA:98889
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Gray matter heterotopia, Thin corpus callosum OMIM:619694
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Oculomotor apraxia, Gray matter heterotopia OMIM:617563
Pseudo-Torch Syndrome 2
Cerebral calcification, Cerebellar hypoplasia, Gray matter heterotopia, Microcephaly, Polymicrogy... OMIM:617397
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Cerebellar hypoplasia, Microcephaly, Lissence... ORPHA:2671
Vici Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Gray matter heterotopia, Cerebral cortical at... ORPHA:1493
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hypertonia ORPHA:1895
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Macrogyria,... ORPHA:35107
Joubert Syndrome With Oculorenal Defect
Ataxia, Abnormality of neuronal migration, Cerebellar vermis hypoplasia ORPHA:2318
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Lissencephaly, Oculomotor a... OMIM:617822
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum OMIM:618974
Man1B1-Cdg
Cerebellar hypoplasia, Resting tremor, Periventricular heterotopia, Broad-based gait ORPHA:397941
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Oculomotor apraxia, Aplasia/Hypoplasia of... ORPHA:1454
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2211
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping OMIM:300624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:228308
Alg11-Cdg
Opisthotonus, Limb hypertonia, Ataxia, Gray matter heterotopia, Hypertonia ORPHA:280071
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Periven... ORPHA:468631
6Q Terminal Deletion Syndrome
Dysmetria, Cerebellar hypoplasia, Periventricular heterotopia, Gray matter heterotopia, Gait atax... ORPHA:75857
Galloway-Mowat Syndrome
Hemiplegia/hemiparesis, Pachygyria, Abnormality of neuronal migration, Hypertonia ORPHA:2065
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
3C Syndrome
Dandy-Walker malformation, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:7
Coffin-Lowry Syndrome
Progressive spasticity, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Abnormality of ne... ORPHA:192
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Radio-Tartaglia Syndrome
Ataxia, Gait imbalance, Gray matter heterotopia, Tremor OMIM:619312
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... ORPHA:231214
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Abnormality of neuronal migration, Tremor ORPHA:2754
Arima Syndrome
Dilated fourth ventricle, Ataxia, Gray matter heterotopia, Aplasia/Hypoplasia of the cerebellar v... OMIM:243910
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Miller-Dieker Lissencephaly Syndrome
Agyria, Cavum septum pellucidum, Gray matter heterotopia, Microcephaly, Lissencephaly, Midline br... OMIM:247200
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Microcephaly, Intracerebral periventricular cal... OMIM:608836
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:618797
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, H... ORPHA:314679
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Chiari malformation, Gray matter heterotopia, M... OMIM:304050
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
16P13.11 Microdeletion Syndrome
Microcephaly, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Dandy-Walker malformation, Hy... OMIM:605039
Vici Syndrome
Agenesis of corpus callosum, Schizencephaly, Gray matter heterotopia, Microcephaly, Cerebellar ve... OMIM:242840
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Microcephaly, Hypoplasia of the cor... OMIM:618918
Van Maldergem Syndrome 2
Hypoplasia of the corpus callosum, Gray matter heterotopia, Periventricular nodular heterotopia, ... OMIM:615546
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Chiari malformation, Gray ... OMIM:618820
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Absent septum pellucidum OMIM:618870
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Agenesis of corpus callosum... OMIM:311200
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia ORPHA:26791
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Peroxisome Biogenesis Disorder 1A (Zellweger)
Frequent falls, Gray matter heterotopia, Unsteady gait, Loss of ambulation, Polymicrogyria OMIM:214100
Holoprosencephaly
Dandy-Walker malformation, Spasticity, Chorea, Aplasia/Hypoplasia of the cerebellum, Abnormality ... ORPHA:2162
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:261250
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus... ORPHA:464311
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Koolen-De Vries Syndrome
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:610443
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Agenesis of corpus callosum, Anencephaly, Gray matter heterotopia, Da... OMIM:236680
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum ORPHA:453499
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:3186
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Periventricular heterotopia, Microcephaly, Simplified gyral pattern, Dandy... OMIM:615948
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Periventricular heterotopia, Dilated third ventricle, Open operculum, M... ORPHA:434179
Nijmegen Breakage Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus call... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus call... ORPHA:352665
Pagod Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Cerebellar hypoplasia, Periventricular heterotopia, Gray matter heterotopia, Microcephaly, Hypopl... OMIM:612289
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Dandy-Walker malforma... OMIM:270400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agen... ORPHA:261537
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Hypopl... ORPHA:261552
Mowat-Wilson Syndrome
Enlarged cerebellum, Motor stereotypy, Periventricular heterotopia, Impaired pain sensation, Inab... ORPHA:2152
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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 Plxna2

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 Plxna2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Plxna2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Plxna2tm1a(EUCOMM)Wtsi