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:
Gababr2,  LOC242425,  Gpr51,  GB2

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
Seizure, Inability to walk, Self-injurious behavior, Hypsarrhythmia OMIM:617904
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Inappropriate laughter, Inappropriate crying, Dys... 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
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 56
Ataxia, Seizure, Status epilepticus, EEG abnormality, Anxiety, Attention deficit hyperactivity di... OMIM:617665
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Landau-Kleffner Syndrome
Interictal EEG abnormality, Emotional lability, Focal myoclonic seizure, Bilateral tonic-clonic s... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Mental Retardation, Autosomal Dominant 52
Seizure, Anxiety, Hyperactivity OMIM:617796
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Lennox-Gastaut Syndrome
Personality disorder, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Atonic... ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Continuous Spikes And Waves During Sleep
Dystonia, Atonic seizure, Focal hemiclonic seizure, Interictal epileptiform activity, EEG with fr... ORPHA:725
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Irritability, Hyperactivity, Inability to walk OMIM:616657
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Obsessive-Compulsive Disorder
Skin-picking, Anxiety OMIM:164230
Mental Retardation, Autosomal Recessive 37
Seizure, Aggressive behavior, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure OMIM:616281
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Aggressive behavior, Hyperactivity ORPHA:356996
Mental Retardation, Autosomal Dominant 39
Aggressive behavior OMIM:616521
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... 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
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Seizure, Infantile spasms, Focal impaired awareness seizure, Bilateral tonic... ORPHA:65683
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Emotional lability, Interictal epileptiform activity, ... ORPHA:1929
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... ORPHA:101071
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-cloni... OMIM:616645
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Seizure, Status epilepticus, EEG abnormality, Hyperactivity OMIM:239500
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... ORPHA:36899
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... ORPHA:98820
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Anxiety, Myoclonus, Dysme... OMIM:619191
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
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... OMIM:618587
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Photosensitiv... ORPHA:86909
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, Ag... ORPHA:268947
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Aggressive behavior, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal ep... OMIM:619157
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Apathy, Abulia, EEG with continuous slow ... ORPHA:275864
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Myoclonus OMIM:159900
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, EEG abnormality, Hyperactivity ORPHA:436151
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Seizur... ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Bilateral tonic-clonic seizure, Ataxia, Status epil... OMIM:271980
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Tre... ORPHA:36387
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure, Failure to thrive in infancy OMIM:619065
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Glycine Encephalopathy
Lethargy, Aggressive behavior, Seizure, Impulsivity, Irritability, Myoclonus, Hyperactivity OMIM:605899
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... ORPHA:228360
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Anxiety, Normal interictal EEG, Generalized-onset seizure OMIM:602066
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, D... ORPHA:1945
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Ataxia, Anxiety, Myoclonus, Inappropriate behavior, Cognitive impai... ORPHA:401901
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... ORPHA:3006
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Atonic seizure, Myoclonic seizure, Low frustration tolerance, Hyperactivity... ORPHA:168491
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired ... ORPHA:330050
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Status epilepticu... OMIM:619317
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Focal-onset seizure, Depression... ORPHA:88616
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Seizure, Progressive cerebella... ORPHA:248111
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Atonic seizure, Focal-onset seizure, EEG with generaliz... ORPHA:1942
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Bilateral t... ORPHA:485350
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Seizure, Craniofacial ... ORPHA:71517
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... OMIM:619279
Dravet Syndrome
Photosensitive myoclonic seizure, Focal hemiclonic seizure, Interictal epileptiform activity, Imp... ORPHA:33069
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Seizure, Hyperactivity OMIM:300983
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Seizure, Paroxysmal bursts of laughter, EEG a... OMIM:618718
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Mental Retardation, Autosomal Dominant 43
Seizure, Impulsivity, Anxiety, Hyperactivity OMIM:616977
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Spinocerebellar Ataxia 48
Tremor, Dystonia, Gait ataxia, Depression, Bilateral tonic-clonic seizure, Ataxia, Irritability, ... OMIM:618093
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Seizure, Irritability, Anxiety, Hyperactivity, ... OMIM:261600
Mannosidosis, Beta A, Lysosomal
Seizure, Aggressive behavior, Hyperactivity OMIM:248510
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Dementia, Blepharospasm, Bilateral tonic-clonic seizur... OMIM:607876
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety OMIM:606438
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Seizure, EEG abnormality, Hyperactivity, Broad-based gait, Happy ... ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Atonic seizure, Self-injurious behavior, Bilateral tonic-clonic se... ORPHA:382
Developmental And Epileptic Encephalopathy 79
Seizure, Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Myoclonic sei... OMIM:618559
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363558
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Bilateral tonic-clonic seizure, Interictal epileptiform activity... ORPHA:98784
Familial Infantile Myoclonic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... ORPHA:352582
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Foxg1 Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Decreased body weight, Status epilepticus, M... ORPHA:561854
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:618917
Coffin-Siris Syndrome 8
Seizure, Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Xq25 Microduplication Syndrome
Seizure, Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Seizure, Anxiety, Hyperactivity OMIM:300979
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Seizure, Myoclonus, Hyperactivity, Mental deterioration OMIM:615924
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure OMIM:300423
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Epileptic spasm, G... OMIM:612164
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Bilateral tonic-clonic seizure, EEG abnormality, Irritability, Abnor... ORPHA:457205
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Seizure, Hyperactivity OMIM:612716
Intellectual Developmental Disorder, X-Linked 30
Seizure, Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Immunodeficiency 8
Hyperactivity OMIM:615401
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618730
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:614559
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Seizure, Impulsivity, EEG abnormal... ORPHA:500180
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Generalized myocl... OMIM:618090
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:2590
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure, Generalized myoclonic seizure, ... ORPHA:464282
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity OMIM:300271
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Focal-onset seizure, Ataxia, Seizure, EEG abnormality, Progressive language ... OMIM:610042
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Progressive Supranuclear Palsy
Memory impairment, Tremor, Dystonia, Dementia, Depression, Blepharospasm, Bradykinesia, Unsteady ... ORPHA:683
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Developmental And Epileptic Encephalopathy 59
Seizure, Inability to walk, Self-injurious behavior, Hypsarrhythmia OMIM:617904
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:301058
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fa... ORPHA:42
Mental Retardation, Autosomal Recessive 61
EEG abnormality, Aggressive behavior, Hyperactivity OMIM:617773
Microcephaly, Seizures, And Developmental Delay
Seizure, Ataxia, Hyperactivity OMIM:613402
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Gm2 Gangliosidosis, Ab Variant
Dystonia, Seizure, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior,... ORPHA:309246
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Small for gesta... ORPHA:777
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavi... OMIM:615516
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Lafora Disease
Hypsarrhythmia, Atonic seizure, Emotional lability, Erratic myoclonus, Ataxia, Focal impaired awa... ORPHA:501
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Inappropriate laughter, Inappropriate crying, Dys... ORPHA:3095
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Childhood Absence Epilepsy
Low self esteem, Febrile seizure (within the age range of 3 months to 6 years), Depression, Myocl... ORPHA:64280
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure, Obesity ORPHA:93952
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Failure to thrive, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Ck Syndrome
Seizure, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Clark-Baraitser Syndrome
Seizure, Aggressive behavior, Hyperactivity OMIM:617752
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Ck Syndrome
Seizure, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
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
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Typical absence s... ORPHA:101070
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Overweight, Bilateral tonic-clonic seizure ORPHA:457240
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, Seizure, EEG with abnormally slow frequencies, EEG abnorm... ORPHA:98794
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, A... ORPHA:98795
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Hyperphosphatasia With Mental Retardation Syndrome 6
Seizure, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity OMIM:616809
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Failure to thrive, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:544503
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety, Myoclonus OMIM:616398
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Seizure, Unste... ORPHA:35069
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Small for gestational age, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:79243
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:79264
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Atypical absence seizure,... ORPHA:72
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Aggressive behavior, Hyperactivity OMIM:615824
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Aggressive behavior, Hyperactivity OMIM:615286
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Sei... OMIM:103050
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Hyp... OMIM:300912
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Myoclonus ORPHA:364028
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Status epilepticus, Progressive psychomotor deterioration, Seizure, ... ORPHA:363400
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Lethargy, Hyperactivity OMIM:274270
Mental Retardation, Autosomal Dominant 7
Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, Gait distu... OMIM:614104
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619091
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Seizure, Tonic seizure, Hyperactivity, Infantile spasms OMIM:619239
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:1947
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Seizure, Hyperactivity, Mood swings OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Seizure, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... ORPHA:395
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity OMIM:300434
Smith-Magenis Syndrome
Self-mutilation, Seizure, Head-banging, EEG abnormality, Hyperactivity OMIM:182290
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:79351
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Hypomagnesemia, Seizures, And Mental Retardation 2
Status epilepticus, Generalized-onset seizure, Hyperactivity, Self-biting OMIM:618314
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Eunuchoid habitus, Bilateral tonic... ORPHA:3044
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Bilateral tonic-clonic sei... ORPHA:480864
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Seizure, Impulsivity... OMIM:610217
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Bilateral Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Generalized-onset... ORPHA:268940
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Seizure, Hyperactivity, ... OMIM:601853
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Failure to thrive, Bilateral tonic-clonic seizure ORPHA:481152
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Depression, Allodynia ORPHA:221091
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Seizure, Paroxysmal bursts of laughter, Hyperactivity ORPHA:228402
Mental Retardation, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Seizure, Irritability, Anxiety, Hyperac... ORPHA:449291
Chromosome 2Q37 Deletion Syndrome
Seizure, Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Sotos Syndrome 3
Hyperactivity OMIM:617169
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Hyperlysinemia, Type I
Seizure, Cognitive impairment, Hyperactivity OMIM:238700
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Seizure, Hyperactivity, Athetosis ORPHA:52503
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Mucopolysaccharidosis, Type Iiib
Seizure, Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting ORPHA:3306
Intellectual Developmental Disorder, X-Linked 21
Seizure, Impulsivity, Hyperactivity OMIM:300143
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... ORPHA:435638
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:617193
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasm... ORPHA:457351
Angelman Syndrome
Progressive gait ataxia, Seizure, Paroxysmal bursts of laughter, Limb tremor, EEG abnormality, Hy... OMIM:105830
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Seizure, Anxiety, Hyperactivity OMIM:618430
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... OMIM:618143
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Seizure, EEG abnormality, Hyperactivity, Broad-based gait ORPHA:85293
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal motor seizure, Infantile spasms, Generalized myocl... ORPHA:79241
Mental Retardation, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Myoclonus, Tonic seizur... OMIM:615851
Glass Syndrome
Aggressive behavior, Seizure, Happy demeanor, Hyperactivity, Broad-based gait OMIM:612313
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:615802
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:247262
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Ataxia, Multifocal epileptiform discharges, EEG abnormality, Hyperactivity ORPHA:369891
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Emotional lability, Seizure, Low frustration tolerance, Hyperactivity OMIM:309520
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity OMIM:613192
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Seizure, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus OMIM:616716
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Seizure, Failure to thrive, Infantile spasms, Generalized myoclon... ORPHA:255210
Melas
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Failure to thrive ORPHA:550
19P13.3 Microduplication Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Irritability, Self-injurious behav... ORPHA:447980
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Bilateral tonic-clonic seizure, Irritability, Hyperactivity, Myoclo... ORPHA:447997
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Failure to thrive, Focal motor seizure ORPHA:2131
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Generalized non-motor (absence) seizure, Low frustration... ORPHA:363686
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
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
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Hallermann-Streiff Syndrome
Small for gestational age, Bilateral tonic-clonic seizure OMIM:234100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:369837
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset, Failure to thrive in infancy ORPHA:488627
Potocki-Lupski Syndrome
Seizure, EEG abnormality, Hyperactivity OMIM:610883
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, Se... ORPHA:466943
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Truncal obesity, Typical absence seizure,... ORPHA:466950
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Focal motor seizure ORPHA:79139
Fragile X Syndrome
Seizure, Hyperactivity OMIM:300624
Chromosome 10Q26 Deletion Syndrome
Seizure, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:257300
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-injuriou... ORPHA:468678
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
D-Bifunctional Protein Deficiency
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:261515
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Mood swings ORPHA:525731
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Seizure, Dysmetria, Hyperactivit... ORPHA:139396
Argininemia
Seizure, Spastic gait, Irritability, Hyperactivity OMIM:207800
Cocaine Intoxication
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Atypical absenc... ORPHA:90068
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... ORPHA:268261
47,Xyy Syndrome
Seizure, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
19P13.12 Microdeletion Syndrome
Seizure, Self-injurious behavior, Hyperactivity ORPHA:254346
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hemifacial spasm, Hyperactivity OMIM:213300
Lamb-Shaffer Syndrome
Seizure, Ataxia, Hyperactivity ORPHA:530983
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... ORPHA:513456
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Gait disturbance, Seizure, Impulsivity, Hyperactivity ORPHA:363528
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Focal-onset seizure, Gait disturbance, Seizure, Hyperactivity, Generalized-onset seizure ORPHA:457485
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Simple febrile seizure, Opisthotonus, Seizure, Dysmetria, ... ORPHA:2203
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Focal-onset seizure, Self-injurious behavior, Status epilepticus... ORPHA:805
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Seizure, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Bilateral tonic-clonic seizure ORPHA:457359
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Fatigable weakness of swallowing muscles, Disinhibition, Ag... ORPHA:581
Mucopolysaccharidosis, Type Iiic
Seizure, Motor deterioration, Hyperactivity OMIM:252930
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Seizure, Low frustration tolerance, Anxiety, Hype... ORPHA:319182
21Q22.11Q22.12 Microdeletion Syndrome
Seizure, Self-injurious behavior, Inappropriate crying, Hyperactivity ORPHA:261323
Chromosome 13Q33-Q34 Deletion Syndrome
Seizure, Aggressive behavior, Hyperactivity OMIM:619148
Tubular Renal Disease-Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:459070
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Dementia, Depression, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradyk... OMIM:234200
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia ORPHA:252164
Koolen-De Vries Syndrome
Seizure, Impulsivity, Anxiety, Hyperactivity, Conspicuously happy disposition OMIM:610443
Mucopolysaccharidosis, Type Iiia
Seizure, Hyperactivity OMIM:252900
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Seizure, Unsteady gait, Anxiety, Dysmetria, Hyperac... ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Gait ataxia, Hyperactivity OMIM:300486
Mend Syndrome
Seizure, Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity ORPHA:401973
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Seizure, Panic att... ORPHA:353281
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Seizure, Impulsivity, D... ORPHA:580
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile spasms OMIM:301044
Brain-Lung-Thyroid Syndrome
Dystonia, Intention tremor, Ataxia, Falls, Myoclonus, Hyperactivity ORPHA:209905
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Dyrk1A-Related Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Gait disturbance, Seizure, Anxiety... ORPHA:464306
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Brooks-Wisniewski-Brown syndrome
Seizure, EEG abnormality, Hyperactivity OMIM:300612
Coffin-Siris Syndrome
Seizure, Aggressive behavior, Hyperactivity ORPHA:1465
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Seizure, Panic att... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Seizure, Panic att... ORPHA:353284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Epile... ORPHA:438213
Sotos Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal impaired ... ORPHA:821
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Rubinstein-Taybi Syndrome 1
Self-mutilation, Agoraphobia, Seizure, Unsteady gait, Impulsivity, EEG abnormality, Abnormal fear... OMIM:180849
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Monosomy 22Q13.3
Seizure, Hair-pulling, Hyperactivity ORPHA:48652
Histidinemia
Hyperactivity ORPHA:2157
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) Targeting vectors

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