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 (GABA) B receptor, 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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 59
Inability to walk, Self-injurious behavior, Hypsarrhythmia, Seizure OMIM:617904
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Generalized myoclonic seizure, Inappropri... ORPHA:3095
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure OMIM:617903

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Bilateral tonic-clon... OMIM:245570
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Emotional lability, Atypical absence s... ORPHA:98818
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Lennox-Gastaut Syndrome
Atypical absence seizure, EEG abnormality, Atonic seizure, Hyperactivity, Generalized myoclonic s... ORPHA:2382
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, EEG abnormality, Broad-based gait... OMIM:617665
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure,... OMIM:611726
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Mental deterioration, Bilateral tonic-clonic s... OMIM:610003
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure, Paroxysmal dyston... OMIM:602066
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Bilateral tonic-clonic seizure, Attention deficit hyperactiv... OMIM:619157
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Myoclonus, Anxiety, Difficulty walking, Bila... OMIM:619191
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... ORPHA:36899
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Mental deterioration, EEG with irregular generalized spike and wav... ORPHA:86909
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Rasmussen Subacute Encephalitis
Inability to walk, Focal impaired awareness seizure, Emotional lability, Interictal epileptiform ... ORPHA:1929
Lissencephaly 10
Torticollis, Atypical absence seizure, EEG abnormality, Atonic seizure, Focal impaired awareness ... OMIM:618873
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:101071
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Failure to thrive, Infantile spasms, Generalized myoclonic-atonic seizure, Bi... OMIM:619701
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Behavioral Variant Of Frontotemporal Dementia
Apathy, Mental deterioration, Inappropriate behavior, Memory impairment, Gait disturbance, Emotio... ORPHA:275864
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Anxiety, Myoclonic ... OMIM:619000
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... OMIM:616230
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Depression, EEG with irregular general... ORPHA:1945
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure, Failure to thrive in infancy OMIM:619065
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral to... ORPHA:330050
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Bilateral... OMIM:619317
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Self-injurious behavior, Focal impaired awareness seizure, Generalized my... ORPHA:382
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Small for gestational age, Myoclonus, Epileptic spasm, Febrile seizure... ORPHA:289266
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Generalized ... OMIM:271980
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Bilateral tonic-clonic seizure, Failure to thrive, Focal-onset seizure OMIM:614559
Developmental And Epileptic Encephalopathy 37
Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Multifocal seizures OMIM:616981
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Progressive Myoclonic Epilepsy Type 3
Myoclonus, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:263516
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Mental deterioration, Hyperactivity, Generali... ORPHA:168491
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, EEG with generalized epileptiform... OMIM:619827
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence)... OMIM:619854
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Paroxysmal dystonia, Cognitive impairment, Increased theta frequency activ... ORPHA:98784
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Small for gestational age OMIM:619278
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:204200
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Tremor, Bilateral tonic-clonic seiz... OMIM:618093
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Generalized myoclonic seizure OMIM:617836
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Bilateral tonic-clonic seizure OMIM:618237
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:613970
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Cognitive impairment, Jerk-locked premy... OMIM:607876
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Developmental And Epileptic Encephalopathy 79
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Migrati... OMIM:618559
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... OMIM:612736
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Myoclo... OMIM:619913
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Foxg1 Syndrome
Status epilepticus, Decreased body weight, Myoclonus, Infantile spasms, Bilateral tonic-clonic se... ORPHA:561854
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Bilateral tonic-... ORPHA:363558
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Clonic seizure, Tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Limb myoclo... ORPHA:352582
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, S... OMIM:610539
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bi... OMIM:612164
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 59
Inability to walk, Self-injurious behavior, Hypsarrhythmia, Seizure OMIM:617904
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Ge... ORPHA:485350
Dk1-Cdg
Failure to thrive, Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure ORPHA:91131
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Generalized myoclonic seizure, Inappropri... ORPHA:3095
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure, ... ORPHA:464282
Progressive Supranuclear Palsy
Impulsivity, Blepharospasm, Cognitive impairment, Depression, Falls, Memory impairment, Tremor, U... ORPHA:683
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-cl... OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Unilateral Focal Polymicrogyria
Focal motor seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:268947
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Cachexia, Fatigable weakness, Febrile seizure (within the age... ORPHA:42
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:619428
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, ... ORPHA:1947
Lafora Disease
Status epilepticus, Ataxia, Inability to walk, Focal impaired awareness seizure, Mental deteriora... ORPHA:501
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Childhood Absence Epilepsy
Typical absence seizure, Depression, Anxiety, Low self esteem, Limb myoclonus, EEG with spike-wav... ORPHA:64280
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei... OMIM:618170
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:777
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Bilateral tonic-clonic seizure, Seizure OMIM:619911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Panic attack, Nocturnal seizures, B... OMIM:619725
Dentici-Novelli Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Epileptic spasm OMIM:619877
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
X-Linked Intellectual Disability, Hedera Type
Obesity, Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Seizure ORPHA:529665
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
D-Glyceric Aciduria
Status epilepticus, Failure to thrive, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic se... OMIM:220120
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Overweight, Seizure ORPHA:457240
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:544503
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... ORPHA:98795
Pelger-Huet Anomaly
Failure to thrive, Bilateral tonic-clonic seizure, Seizure OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure OMIM:616672
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Myoclonic spasms, Seizure ORPHA:79264
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:619983
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Small for gestational age ORPHA:453510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Slender build, Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:364028
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Canavan Disease
Bilateral tonic-clonic seizure, Epileptic spasm OMIM:271900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:79243
Early Infantile Epileptic Encephalopathy
Infantile spasms, EEG with burst suppression, Tremor, Hypsarrhythmia, Self-injurious behavior, Hy... ORPHA:1934
Trigeminal Neuralgia
Depression, Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non... ORPHA:395
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral toni... ORPHA:79351
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Failure to thrive, Atonic seizure, Focal hemiclonic seizure, Focal impaired a... OMIM:616973
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure ORPHA:481152
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Eu... ORPHA:3044
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan... ORPHA:480864
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Failure to thrive, Atonic seizure, Tonic seizure, Generalized myoclonic seizu... OMIM:300912
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Epileptic spa... OMIM:619580
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoc... ORPHA:72
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized myoclonic seizure OMIM:615501
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Bilateral Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:268940
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
Jaberi-Elahi Syndrome
Failure to thrive, Bilateral tonic-clonic seizure OMIM:617988
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Severe failure to thrive ORPHA:423479
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Failure to thrive, Focal impaired awareness seizure, Tonic seizure, Small for gestational age, Bi... OMIM:620024
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Tonic seizure, Myoclonus, Infantile spasms, Myoclonic seizure, Myoclonic... OMIM:619777
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:435638
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized non-... ORPHA:457351
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure OMIM:617193
Developmental And Epileptic Encephalopathy 95
Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seiz... OMIM:618143
Biotinidase Deficiency
Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:79241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hyperphosphatasia-Intellectual Disability Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:247262
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Bilateral tonic-clon... OMIM:617799
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
Alternating Hemiplegia Of Childhood
Status epilepticus, Focal motor seizure, Failure to thrive, Bilateral tonic-clonic seizure, Seizure ORPHA:2131
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:255210
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:163681
Melas
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure ORPHA:550
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:496641
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:99885
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy ORPHA:79124
Kinsship Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:619297
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, General... ORPHA:369837
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Failure to thrive in infancy, Seizure ORPHA:488627
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:466943
D-Bifunctional Protein Deficiency
Failure to thrive, Bilateral tonic-clonic seizure, Seizure OMIM:261515
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Truncal obesity, Simple febrile seizure, Bilateral tonic-clonic seizure,... ORPHA:466950
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:277590
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:79139
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Small for gestational age OMIM:257300
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Failure to thrive, Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure OMIM:619512
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bilateral tonic-clonic seizure, Generalized-onset seizure, Atonic seizure OMIM:620066
Cocaine Intoxication
Status epilepticus, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Focal-on... ORPHA:90068
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Atonic seizure, Generalized myoclonic seizure, Small for gestational age... ORPHA:268261
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure, Small for gestational age OMIM:234100
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Seizure ORPHA:319213
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:513456
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia ORPHA:252164
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seizures OMIM:301044
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Bilateral tonic-clonic seizure OMIM:252010
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Slender build, Bilateral tonic-clonic seizure ORPHA:457359
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Generalized tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:459070
Ogden Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:300855
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:614756
Choreoacanthocytosis
Weight loss, Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Doors Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Myoclonus, Epileptic spasm, Bilateral tonic-clonic seizure on awakenin... ORPHA:438213
Sotos Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Seizure OMIM:147920
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure OMIM:617903

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

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