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Gene: Gria4 MGI:95811

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glutamate receptor, ionotropic, AMPA4 (alpha 4)
Synonyms:
spkw1,  Gluralpha4,  Glur4,  Glur-4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gria4 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 Gria4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Inability to walk, Short attention span, Irritability, Exaggerated startle res... OMIM:617864

The table below shows human diseases predicted to be associated to Gria4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
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
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... OMIM:616421
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure OMIM:607417
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure OMIM:602066
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Status ... OMIM:617665
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure ORPHA:86814
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Bilateral tonic-clon... ORPHA:2590
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Dystonia, Weight loss, Hyperactivity, At... ORPHA:248111
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Aggressive be... ORPHA:382
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines OMIM:301076
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Intellectual Developmental Disorder, Autosomal Recessive 57
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:617188
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Infantile Convulsions And Choreoathetosis
Seizure, Complex febrile seizure, Focal-onset seizure, Focal impaired awareness autonomic seizure... ORPHA:31709
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Gait disturbance, Hyperactivity, Delayed early... OMIM:618090
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Hsd10 Disease
Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, Abnormal social behavior, Chor... ORPHA:391417
Foxg1 Syndrome
Difficulty walking, Inability to walk, Bruxism, Reduced social reciprocity, Decreased body weight... ORPHA:561854
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clo... ORPHA:1942
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:617600
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Reduced social reciprocity ORPHA:329249
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Dystonia, Reduced social... OMIM:615157
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
Young-Onset Parkinson Disease
Depression, Bradykinesia, Frontal lobe dementia, Gait imbalance, Restless legs, Short attention s... ORPHA:2828
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure ORPHA:467166
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Myoclonic seizure, Focal-onset seizure, Generalized non-motor (absence... OMIM:620166
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Developmental And Epileptic Encephalopathy 110
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Periventricular Nodular Heterotopia 7
Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:617201
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset seizure, Focal tonic ... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Bradykinesia, Inability to walk, Short attention span, Reduced social reciproci... OMIM:617854
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Reduced social reciprocity, Tremor, Aggressive behavior, Ataxia, Dysto... OMIM:619738
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se... ORPHA:95232
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Seizure OMIM:616034
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Tonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300260
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Inability to walk, Short attention span, Irritability, Exaggerated startle res... OMIM:617864
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ... ORPHA:79351
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset... OMIM:619229
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei... OMIM:616973
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Bradykinesia, Gait ataxia, Intention tremor, Dysmetria, Emotional lability,... OMIM:610217
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong... OMIM:608643
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:457351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:300912
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic sei... ORPHA:395
Dpm1-Cdg
Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo... ORPHA:79322
Leukodystrophy, Hypomyelinating, 13
Irritability, Failure to thrive, Exaggerated startle response, Ataxia OMIM:616881
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Difficulty walking, Short a... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615802
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:96147
Early Infantile Epileptic Encephalopathy
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:1934
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... ORPHA:309263
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:620224
Angelman Syndrome
Seizure, Infantile spasms, Myoclonus, Atonic seizure, Atypical absence seizure, Status epilepticu... ORPHA:72
Tay-Sachs Disease
Mania, Depression, Memory impairment, Laryngeal dystonia, Inability to walk, Short attention span... ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:617798
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Agitation OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trai... OMIM:234200
48,Xxxy Syndrome
Obesity, Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, imp... ORPHA:96263
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Limb dystonia, ... ORPHA:646
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizure, Atonic... ORPHA:404454
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Impulsivity, Lethargy, Hyperactivity, Exaggerated startle response, Dystonia, Agita... OMIM:620423
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure ORPHA:258
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s... OMIM:620455
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Memory impairment, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebell... ORPHA:314647
Kinsship Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s... OMIM:619297
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:466943
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Failure to thrive, Cognitive impairment, Exaggerated startle response OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fg Syndrome Type 1
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Compulsive behaviors, ... ORPHA:93932
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia OMIM:268800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Obesity, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:268261
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Failure to thrive, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:513456
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Helsmoortel-Van Der Aa Syndrome
Tonic seizure, Typical absence seizure, Seizure OMIM:615873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure ORPHA:352665
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia OMIM:620451
Asparagine Synthetase Deficiency
Irritability, Failure to thrive, Tremor, Exaggerated startle response OMIM:615574
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:2636
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri... OMIM:620330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:612474
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Focal-onset seizure, Atonic seizure OMIM:617157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Mend Syndrome
Aggressive behavior, Failure to thrive, Abnormal social behavior, Hyperactivity ORPHA:401973
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Irritability, Exaggerated startle response OMIM:618367
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... ORPHA:821
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Attention def... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Attention def... ORPHA:363958
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Williams Syndrome
Depression, Failure to thrive in infancy, Obesity, Gait imbalance, Dysmetria, Tremor, Overfriendl... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, D... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome
Atypical absence seizure, Status epilepticus, Seizure, Focal-onset seizure ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Focal-onset seizure, Seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Focal-onset seizure, Seizure ORPHA:261552
Alström Syndrome
Typical absence seizure ORPHA:64

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 Gria4

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 Gria4.

No publications found that use IMPC mice or data for Gria4.

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MGI Allele Allele Type Produced
Gria4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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