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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Severe Primary Trimethylaminuria
Emotional lability, Negative affectivity, Depression ORPHA:468726
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced 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
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... 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
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... 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 non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Emotional lability, Bilateral tonic-clonic seizure, Status epilepticus, Motor stereoty... OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Irritability, Bilateral tonic-clonic seizure, Restlessness, EEG abnormality, Focal impaired aware... OMIM:610003
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Fall... ORPHA:2382
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Hyperactivity,... ORPHA:599373
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
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
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:616187
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... 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
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic 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, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-c... OMIM:611726
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, ... ORPHA:208441
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, EEG with ir... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Cognitive ... ORPHA:1929
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Failure to thrive, Myoclo... OMIM:620145
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
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
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Dementia, Depression, Emotional lability, Seizure, Tremor, Confusion, Bilate... OMIM:615362
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Status epilepticus, Generali... OMIM:619701
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Mental deterioration, Bilateral tonic-clonic seizure, Ataxia, Myo... OMIM:619191
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:618141
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity, Bilateral tonic-clonic seizure OMIM:240900
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, G... OMIM:616230
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Stat... ORPHA:330050
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convulsive... OMIM:617106
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the... ORPHA:289266
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myocl... OMIM:618497
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure ORPHA:140927
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Bilateral tonic-clonic seizure, Febril... 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, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Focal-onset seizure, Decreased body weight, Bilateral tonic-clonic seizure OMIM:614559
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Progressive Supranuclear Palsy
Irritability, Falls, Depression, Emotional lability, Memory impairment, Tremor, Blepharospasm, Im... ORPHA:683
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Simple febrile se... ORPHA:1942
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Kohlschutter-Tonz Syndrome
Seizure, Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:226750
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617290
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Obesity, Focal ... OMIM:619854
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Paroxysmal dystonia, Interictal epileptiform acti... ORPHA:98784
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic s... OMIM:618012
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic 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
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Tonic seizure, Myoclonic seizure,... OMIM:618559
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Dementia, EEG with irregular generalized spike and wave complexes, T... OMIM:607876
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Cerebral Creatine Deficiency Syndrome 2
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612736
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:617836
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Exaggerated startle response, Co... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:613970
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Foxg1 Syndrome
Focal-onset seizure, Infantile spasms, Decreased body weight, Bilateral tonic-clonic seizure, Myo... ORPHA:561854
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Myoclonic seizure, Atonic seizure, Bilateral tonic-cloni... 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
Generalized myoclonic seizure, Tonic 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
Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the a... OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Focal tonic seizure, Bilateral tonic-clonic seizur... OMIM:617105
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Focal tonic seizure, Bilatera... ORPHA:485350
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Focal motor seizure, 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, Status epilepticus, Clonic s... OMIM:610539
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Dk1-Cdg
Focal-onset seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive ORPHA:91131
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Seizure, Progressive language deterioration, Motor stereo... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Slend... OMIM:617600
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Unilateral Focal Polymicrogyria
Simple febrile seizure, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure with focal o... ORPHA:268947
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure OMIM:617933
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Lafora Disease
Focal-onset seizure, Atypical absence seizure, Atonic seizure, Ataxia, Giant somatosensory evoked... ORPHA:501
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:464282
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Cachexia, Bilateral tonic-clonic seizure, Febrile seizure (within the age ran... ORPHA:42
Developmental And Epileptic Encephalopathy 47
Status epilepticus, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic 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
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... 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
Focal impaired awareness seizure, Tonic 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
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset 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
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Childhood Absence Epilepsy
Typical absence seizure, Depression, Myoclonic absence seizure, Bilateral tonic-clonic seizure, A... ORPHA:64280
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset 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
Seizure, Myoclonic seizure, Bilateral tonic-clonic 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
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:619911
X-Linked Intellectual Disability, Hedera Type
Obesity, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic... ORPHA:363558
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic 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 non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar... OMIM:618325
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Overweight, Bilateral tonic-clonic seizure ORPHA:457240
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:620655
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:79243
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Agitation, Neonatal seizure, Restrictive beha... ORPHA:3095
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:544503
D-Glyceric Aciduria
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Failure to thrive, Focal clonic seizure, Stat... OMIM:220120
Sandhoff Disease, Infantile Form
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus 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
Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Seizure, Bilater... ORPHA:98795
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Pelger-Huet Anomaly
Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:169400
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619983
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616672
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic 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
Nocturnal seizures, Bilateral tonic-clonic seizure, Myoclonus 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, Bilateral tonic-clonic seizure, Slender build, Myoclonus, Status epilepticus ORPHA:364028
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Restlessnes... 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
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Seizure,... OMIM:616973
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em... ORPHA:79351
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Pitt-Hopkins-Like Syndrome 1
Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:610042
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Large for gestational age, Seizure, Bilateral tonic-clon... OMIM:615398
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater... OMIM:300912
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Clonic seizure... OMIM:619580
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Developmental And Epileptic Encephalopathy 49
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617281
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Infantile spasms, Generalized-onset ... 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
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilateral tonic-c... OMIM:620024
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Hypsarrhythmia, EEG with multifocal slow activity, Seizure, Tremor, Impulsivi... ORPHA:442835
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... ORPHA:457351
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Jaberi-Elahi Syndrome
Failure to thrive, Bilateral tonic-clonic seizure OMIM:617988
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure... OMIM:614231
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Seizure, Generalized tonic seizure, Bilateral tonic-clonic 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
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Status epilepticus, Multifocal seiz... 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
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620224
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Allodynia ORPHA:51890
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
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
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awareness seizure, Small ... OMIM:617799
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus 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
Generalized myoclonic seizure, Seizure, Small for gestational age, Bilateral tonic-clonic seizure OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... 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
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... 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
Seizure, Focal-onset seizure, Obesity, Bilateral tonic-clonic seizure with focal onset ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Bilateral tonic-clonic seizure, Myoclonus OMIM:620451
Alternating Hemiplegia Of Childhood
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Failure to thrive, Status epilepticus ORPHA:2131
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Failure... ORPHA:255210
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Generalized myoclonic seizure, Weight loss, Bilateral tonic-clonic seizure ORPHA:99885
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Fai... OMIM:619297
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus ORPHA:550
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic 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
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:369837
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Obesity, Truncal... ORPHA:466950
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:466943
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
D-Bifunctional Protein Deficiency
Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:261515
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79139
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Seizure, Decreased body weight, Bilateral tonic-clonic seizure, Small for ge... OMIM:620371
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia ORPHA:252164
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Failure to thrive, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:620066
Hallermann-Streiff Syndrome
Small for gestational age, Bilateral tonic-clonic seizure OMIM:234100
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cocaine Intoxication
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, Compulsive behaviors,... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, 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
Seizure, Large for gestational age, Myoclonic seizure, Bilateral tonic-clonic 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
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thri... ORPHA:513456
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Obesity, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Multifocal seizures OMIM:301044
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Slender build, Bilateral tonic-clonic seizure ORPHA:457359
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Dysphagia, Dementia OMIM:603041
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Pudendal Neuralgia
Allodynia ORPHA:60039
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age ran... ORPHA:459070
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Spinal Cord Injury
Allodynia ORPHA:90058
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, Compulsive behaviors,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, Compulsive behaviors,... ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thri... 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
Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range... OMIM:620330
Choreoacanthocytosis
Seizure, Weight loss, Bilateral tonic-clonic 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
Seizure, Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure OMIM:614756
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Doors Syndrome
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Seizure, Recurrent hand flapping, Gait disturbance, Dystonia, Bruxism OMIM:617903
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset 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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