banner
Genes Phenotypes Help, News, Blog

Gene: Gria4 MGI:95811

Log in to follow
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
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Failure to t... 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 myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... 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 myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Autism, Susceptibility To, 20
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Myoclonic-Atonic Epilepsy
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... OMIM:616421
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder OMIM:607417
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms OMIM:602066
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ... OMIM:617665
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus ORPHA:86814
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:2590
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... ORPHA:101070
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Self-injur... ORPHA:382
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... ORPHA:411986
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... OMIM:617188
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure, Focal ... ORPHA:1949
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration OMIM:615924
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... ORPHA:391417
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... ORPHA:444002
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien... ORPHA:31709
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... ORPHA:1020
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Muscular Dystrophy, Congenital, With Or Without Seizures
Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:620166
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Young-Onset Parkinson Disease
Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme... ORPHA:2828
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:617201
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... ORPHA:168491
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc... ORPHA:95232
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei... ORPHA:79101
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure OMIM:616034
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure OMIM:300260
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot... OMIM:608643
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Failure to t... OMIM:617864
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Den Hoed-De Boer-Voisin Syndrome
Generalized clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Nocturn... OMIM:619229
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia,... OMIM:610217
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure OMIM:615398
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Dpm1-Cdg
Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized... ORPHA:79322
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Angelman Syndrome
Infantile spasms, Seizure, Status epilepticus, Myoclonus, Atypical absence seizure, Generalized m... ORPHA:72
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... ORPHA:845
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Brad... OMIM:234200
48,Xxxy Syndrome
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... ORPHA:96263
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... ORPHA:646
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Genera... ORPHA:404454
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure ORPHA:258
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Fg Syndrome Type 1
Broad-based gait, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social... ORPHA:93932
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Cognitive impairment, Dysphagia OMIM:617527
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia OMIM:268800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... ORPHA:177907
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Tonic seizure OMIM:615873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Seizure, Typical absence seizure ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Failure to thrive OMIM:615574
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:620330
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Mend Syndrome
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
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
Williams Syndrome
Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Mowat-Wilson Syndrome
Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Seizure, Atypical absence seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Seizure, Atypical absence 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.

Order Mouse and ES Cells

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter