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Gene: Gabbr2 MGI:2386030

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gamma-aminobutyric acid type B receptor subunit 2
Synonyms:
Gpr51,  GB2,  LOC242425,  Gababr2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gabbr2 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 Gabbr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Atypical Rett Syndrome
Restrictive behavior, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor, Inability t... ORPHA:3095
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Seizure, Difficulty walking, Myoclonus, Tremor, Attention deficit hyperacti... ORPHA:442835
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903

The table below shows human diseases predicted to be associated to Gabbr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression OMIM:613003
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Emotional lability ORPHA:468726
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset ... OMIM:245570
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Motor s... OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, EEG abnormality, Bilateral tonic-clonic seizure, Restlessness... OMIM:610003
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Lennox-Gastaut Syndrome
Mental deterioration, Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irr... ORPHA:2382
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Ataxia, Generalized myoclonic seizure, Focal impaired aware... ORPHA:599373
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:611726
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur... OMIM:619605
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Myoclonic Epilepsy Of Infancy
Mental deterioration, EEG with irregular generalized spike and wave complexes, Generalized non-mo... ORPHA:86909
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Rasmussen Subacute Encephalitis
Hemidystonia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitiv... ORPHA:1929
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Myoclonus, Focal hemiclonic seizur... OMIM:620145
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Seizure, Focal ... ORPHA:3077
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Emotional lability, Tremor, Gait... OMIM:615362
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Infantile spasms, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic... OMIM:619701
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity, Bilateral tonic-clonic seizure OMIM:240900
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Failure to thrive, Epileptic spasm, Bilateral tonic-clonic seizure with focal ... ORPHA:293181
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... OMIM:616230
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, S... ORPHA:330050
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t... OMIM:617106
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619301
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Benign Familial Neonatal-Infantile Seizures
Focal clonic seizure, Tonic seizure, Neonatal seizure, Bilateral tonic-clonic seizure ORPHA:140927
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619302
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Focal-onset seizure, Bilateral tonic-clonic seizure, Decreased body weight OMIM:614559
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure OMIM:301020
Progressive Supranuclear Palsy
Blepharospasm, Depression, Memory impairment, Falls, Emotional lability, Tremor, Irritability, Co... ORPHA:683
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure OMIM:616981
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure OMIM:620317
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:604317
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) ... ORPHA:1942
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure, Seizure OMIM:226750
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Obesity, Bilateral tonic-clonic seizure, Focal ... OMIM:619854
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Paroxysmal dys... ORPHA:98784
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Bilateral tonic-clonic seizure OMIM:618237
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a... OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:204200
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni... OMIM:612736
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Cognitive impairment, Exaggerate... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:613970
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Foxg1 Syndrome
Infantile spasms, Myoclonus, Focal-onset seizure, Decreased body weight, Bilateral tonic-clonic s... ORPHA:561854
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Clonic seizure, Bil... OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:352582
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Seizure ORPHA:209370
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:618235
Spinocerebellar Ataxia 48
Cachexia, Bilateral tonic-clonic seizure OMIM:618093
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Dk1-Cdg
Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:91131
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Motor deterioration, Social and occupational det... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Myoclonus, Bilateral t... OMIM:617600
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor sei... ORPHA:268947
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Lafora Disease
Mental deterioration, Focal sensory seizure with visual features, Emotional lability, Hypsarrhyth... ORPHA:501
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Focal myoclonic seizure, Seizure, Obesity, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:464282
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak... ORPHA:42
Developmental And Epileptic Encephalopathy 47
Tonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:617166
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617493
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure OMIM:600721
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... ORPHA:64280
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Seizure, Bilateral tonic-clonic seizure OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:615716
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Focal motor seizure, Seizure OMIM:619911
X-Linked Intellectual Disability, Hedera Type
Obesity, Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614487
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Seizure ORPHA:529665
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s... ORPHA:363558
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Focal impaired awareness seizure, Seizure ORPHA:488613
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awar... OMIM:618325
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Overweight, Seizure ORPHA:457240
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:313772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Seizure ORPHA:79243
Atypical Rett Syndrome
Restrictive behavior, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor, Inability t... ORPHA:3095
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Seizure ORPHA:544503
D-Glyceric Aciduria
Failure to thrive, Seizure, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Stat... OMIM:220120
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure ORPHA:309155
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:169400
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:616672
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure OMIM:619725
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Slender build, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:364028
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Trigeminal Neuralgia
Depression, Allodynia ORPHA:221091
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Failure to thrive, Focal myoclonic seizure, Seizure ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized non-motor (ab... OMIM:616973
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clon... ORPHA:79351
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Bilateral tonic-clonic seizure with focal onset ORPHA:254881
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral to... ORPHA:480864
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:610042
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilater... ORPHA:395
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Large for gestational age, B... OMIM:615398
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Bila... OMIM:300912
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Epileptic spasm, Tonic seizure, Clonic seizure, Bilateral tonic-clonic seizure... OMIM:619580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Generalized non-motor (absence) seizure OMIM:615802
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mon... ORPHA:3044
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Early Infantile Epileptic Encephalopathy
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... ORPHA:1934
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617281
Bilateral Polymicrogyria
Seizure, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic... ORPHA:268940
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Myoclonic seizure, Small for gestational age, Failure to thrive, Generalized-onset seizure, Epile... OMIM:620024
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Seizure, Difficulty walking, Myoclonus, Tremor, Attention deficit hyperacti... ORPHA:442835
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:457351
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Jaberi-Elahi Syndrome
Failure to thrive, Bilateral tonic-clonic seizure OMIM:617988
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Obesity, Bi... OMIM:614231
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bilateral tonic-clonic seizure, Epileptic spasm, Generalized tonic seizure, Seizure OMIM:617193
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Biotinidase Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized myocl... ORPHA:79241
Developmental And Epileptic Encephalopathy 95
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Multifocal seizures, Status epilept... OMIM:618143
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:620224
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Allodynia ORPHA:51890
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Intellectual Developmental Disorder, Autosomal Dominant 54
Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Small ... OMIM:617799
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure ORPHA:247262
Webb-Dattani Syndrome
Obesity, Bilateral tonic-clonic seizure OMIM:615926
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Generalized myoclonic seizure, Seizure OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:617798
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Glass Syndrome
Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612313
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Myoclonus, Bilateral tonic-clonic seizure OMIM:620451
Alternating Hemiplegia Of Childhood
Failure to thrive, Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus ORPHA:2131
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive, Seizure OMIM:618426
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Generalized tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range ... ORPHA:496641
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized myoclon... ORPHA:255210
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:619297
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Melas
Failure to thrive, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:550
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Molybdenum Cofactor Deficiency, Type B
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms OMIM:252160
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epileptic... OMIM:620455
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Obesity, Generalized tonic seizure, Bilateral tonic-clon... ORPHA:369837
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Obesity, Simple febrile seizure, Truncal obesity, Bilateral tonic-clonic... ORPHA:466950
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:261515
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Japanese Encephalitis
Focal motor seizure, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:79139
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Seizure, Focal-onset seizure, Decreased body weight, Bilateral tonic-clonic seizure, Small for ge... OMIM:620371
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia ORPHA:252164
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Tonic seizure, Myoclonic seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:619512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:620066
Hallermann-Streiff Syndrome
Small for gestational age, Bilateral tonic-clonic seizure OMIM:234100
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Seizure ORPHA:319213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Typical absence seizure, Seizure, Febrile seizure (within the age rang... ORPHA:268261
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cocaine Intoxication
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Seizure OMIM:610505
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, Seizure OMIM:280000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Bilateral tonic-clonic seizure OMIM:252010
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... ORPHA:513456
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:614947
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Focal-onset seizure OMIM:301044
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Bilateral tonic-clonic seizure ORPHA:457359
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Dementia, Dysphagia, Allodynia OMIM:603041
Pudendal Neuralgia
Allodynia ORPHA:60039
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure... ORPHA:459070
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Spinal Cord Injury
Allodynia ORPHA:90058
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:612474
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri... OMIM:620330
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Weight loss, Seizure ORPHA:2388
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure OMIM:614756
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myoclonus, Generalized ton... ORPHA:438213
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... ORPHA:821
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903
Kabuki Syndrome 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:147920

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 Gabbr2

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 Gabbr2.

No publications found that use IMPC mice or data for Gabbr2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gabbr2tm391742(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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