banner
Genes Phenotypes Help, News, Blog

Gene: Snap91 MGI:109132

Log in to follow

Gene Summary

Name:
synaptosomal-associated protein 91
Synonyms:
91kDa,  AP180,  F1-20

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Snap91em1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Snap91 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Snap91 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypsarrhythmia... OMIM:615006
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:245570
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... OMIM:617171
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, EEG with generalized polyspikes, F... ORPHA:725
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impu... OMIM:604317
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Irritability, EEG abnormality, Focal impaired aware... OMIM:610003
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... OMIM:617113
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Inability to walk, Foc... ORPHA:561854
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Attention ... OMIM:619639
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... OMIM:619605
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Abnormal cortical gyration, Infantile spasms, Bilater... ORPHA:65683
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Irritability... OMIM:609056
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Gait ataxia, Depression, Sei... OMIM:615362
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Hand tremor, Gait ataxia, Dyspha... OMIM:617862
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Myoclonus OMIM:162350
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure, EEG abnormality, Pac... OMIM:614115
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, EEG wit... ORPHA:86909
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... OMIM:616409
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized myocloni... OMIM:619701
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal impaired awareness se... OMIM:612691
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Bilateral tonic-clonic seizure, Pachygyria, Gray mat... OMIM:611603
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Myoclonus, Status epilep... OMIM:204300
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Self-injur... ORPHA:382
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Irritability, Dystonia, Neonatal death, Intrauterine growth retar... OMIM:618237
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysmetria, Gait ataxia, Depre... OMIM:618093
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... ORPHA:36387
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Tonic seizure, Unsteady gait, Mul... OMIM:617711
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... OMIM:266100
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetri... OMIM:618090
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... OMIM:618497
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Short stature, Focal EEG discharges with seconda... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Pachygyria, Lissencephaly, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Atonic seizure, Oral-ph... ORPHA:208447
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:607682
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Intrauterine growth r... OMIM:617082
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, EEG abnormality, Dystonia, General... OMIM:617836
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE... OMIM:617976
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seizure, Short stature, Focal-... ORPHA:289266
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Failure to thrive in infancy, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, D... OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Hypsarrhythmia, Lissencephaly, Myoclonus, Status epilepticus, Pac... OMIM:617507
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619301
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Mu... OMIM:617166
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619428
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia OMIM:618425
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure OMIM:620317
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo... OMIM:617290
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... OMIM:617105
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619302
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Growth delay, Seizure, EEG wi... ORPHA:209370
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, EEG with focal spikes, Gait i... ORPHA:488635
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Seizure, Irritability ORPHA:314911
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Self-injurious behavior, EEG abnormality, Convulsive stat... OMIM:618760
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Multifocal epileptiform discharges, A... OMIM:617493
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... OMIM:616981
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Bilateral tonic-clonic seizure, Short stature, Absent pubertal growth spur... ORPHA:464282
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... OMIM:619580
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to... ORPHA:79243
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc... OMIM:616645
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo... ORPHA:140927
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Irritability, Failure ... OMIM:618235
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ... OMIM:612736
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Short stature, Overweight, Tremor, Depression, Seizure, Gait dist... ORPHA:457240
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta ... ORPHA:98784
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Bilateral tonic-clonic seizure wi... ORPHA:352582
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, ... OMIM:300558
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Depression, Prog... ORPHA:254881
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Tonic seizure, Bulimia, Hypsa... OMIM:300912
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Clonic seizur... OMIM:618012
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadochokinesis,... ORPHA:313772
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Impaired tandem gait, Seizure, Falls, Gait disturbance, Action tr... OMIM:300423
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Brain Small Vessel Disease 2
Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Polym... OMIM:614483
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Fatigable weakness, Fatigable weakness of neck ... ORPHA:42
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges,... OMIM:272300
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Myoclonic spasms... ORPHA:79264
Cln3 Disease
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonic seizu... ORPHA:228346
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, EEG w... ORPHA:544503
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Simplified gyral pattern, Myo... OMIM:619877
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, ... OMIM:614487
Dk1-Cdg
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal-onset seizure, Multifocal ... ORPHA:91131
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:617600
Sarcosinemia
Emotional lability, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) ... OMIM:619854
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Hypsarrhythm... OMIM:612164
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... OMIM:613970
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Unsteady gait, Abnormal synaptic transmission, Depression, Blephar... ORPHA:683
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status ... ORPHA:529665
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:618856
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention ... OMIM:619725
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait distur... ORPHA:93952
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Irritability, Pseudobulbar p... ORPHA:199354
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Pachygyria, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, E... ORPHA:1934
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Hypsarrhythmia, Growth delay, Seizure, Opisthot... OMIM:220120
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal... ORPHA:501
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure, Bruxism OMIM:615716
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
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, S... OMIM:619911
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz... OMIM:618170
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Myoclonic seizure, Seizure, Liss... OMIM:618325
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Short stature, Gener... ORPHA:79351
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
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
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Irritabi... ORPHA:481152
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
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
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Short stature, Focal-on... OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Impaired social interactions, Aggressive behavior OMIM:616083
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Seizure, Status epilepticus, ... ORPHA:364028
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive... ORPHA:2131
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Small for gestational age, Self-mutilation, Bilateral tonic-c... ORPHA:453510
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Perisylvian polymi... ORPHA:171680
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... OMIM:617281
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Bilateral tonic-clonic seizure, Anorexia, Pa... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus, Status epilepti... OMIM:616672
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Developmental And Epileptic Encephalopathy 61
Loss of ambulation, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Jaberi-Elahi Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Dysmetria, Gait atax... OMIM:617988
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:300607
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Failure to thrive, Generalized-onset seizure, Small for gestational age, ... OMIM:620024
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Gait imbalance, Short stature OMIM:618120
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... ORPHA:2388
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressiv... ORPHA:329308
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus... OMIM:271900
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Short stature, Generalized non-motor (absence) seizure, Inappropr... OMIM:615802
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... OMIM:619983
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Short sta... OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Growth de... OMIM:617798
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, EEG with burst su... OMIM:618143
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Dystonia, Hypoglyc... ORPHA:480864
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Mild short stature OMIM:169400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Multifocal epileptiform discha... OMIM:615398
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to walk, Myoclonic seizur... OMIM:614222
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Agg... OMIM:612313
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia OMIM:602481
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/ado... OMIM:620224
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... ORPHA:268940
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Athetosis, Seizure, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Seizure,... ORPHA:247262
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Irritability, Myoclonic spas... OMIM:252160
Melas
Ataxia, Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Depression, EEG abnor... ORPHA:550
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Growth delay, Dysphagia, Febrile seizure (withi... ORPHA:496641
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Short stature, Myoclonic seizure OMIM:620070
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Short stature, Inability to walk, Generalized non-motor (absence)... OMIM:614207
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure... OMIM:617193
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Neonata... OMIM:615501
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Amish Lethal Microcephaly
Irritability, Lissencephaly, Bilateral tonic-clonic seizure ORPHA:99742
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Short ... ORPHA:423479
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Difficulty walking, Truncal ataxia ORPHA:369840
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Periventricular heterotopia, Decreased nerve co... OMIM:618733
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Sandhoff Disease
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... ORPHA:488627
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Short stature, Bilateral tonic-clonic seizure, Postnatal growth retard... OMIM:257300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Kinsship Syndrome
Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Generalized non-motor (absenc... OMIM:619297
Hermansky-Pudlak Syndrome 10
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia OMIM:617050
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Gait ataxia, Seizure, Dysphag... ORPHA:255210
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Obesity, Generalized non-motor (absence) sei... ORPHA:466943
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Abnormal rep... OMIM:301040
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ataxia, Aggressive beh... ORPHA:268261
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Bilateral tonic-clonic seizure, Proportionate short sta... OMIM:234100
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
1Q44 Microdeletion Syndrome
Growth delay, Bilateral tonic-clonic seizure, Short stature ORPHA:238769
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Obesity, Generalized non-moto... ORPHA:369837
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Short stature, Aggressiv... OMIM:614756
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Cocaine Intoxication
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... ORPHA:90068
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure, Failure to thrive, ... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia, Intrauterine growth retardation OMIM:610505
Bone Marrow Failure Syndrome 5
Growth delay, Bilateral tonic-clonic seizure, Short stature OMIM:618165
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavi... ORPHA:513456
Weaver Syndrome
Seizure, Polyphagia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:277590
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure, Short stature OMIM:300578
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia ORPHA:319213
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Scissor gait, Choreoathetosis OMIM:278800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Growth delay, Bilateral tonic-clonic seizure ORPHA:436159
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure, Obesity, Short stature OMIM:615926
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Bilateral tonic-clonic seizure with focal onset, Short stature, Tremor, Unsteady gait, Ob... OMIM:614947
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Intrauterine ... ORPHA:99885
Ogden Syndrome
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Postnatal ... OMIM:300855
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
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Myoclon... OMIM:280000
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, Depression, Dysphagia, Generalized... ORPHA:355
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Increased theta f... ORPHA:459070
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Difficulty walking, Impai... ORPHA:457359
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato... OMIM:620066
X Small Rings
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure OMIM:252010
Pseudoleprechaunism Syndrome, Patterson Type
Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Failure to thrive OMIM:618426
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Truncal obesity,... OMIM:612474
Holoprosencephaly 14
EEG abnormality, Gray matter heterotopia, Bilateral tonic-clonic seizure, Periventricular heterot... OMIM:619895
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Epileptic spasm, Short stature, Exaggerated startle response, Dystonia, Inabili... ORPHA:438213
Doors Syndrome
Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure, Myoclonus, Pol... ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure, Short stature ORPHA:2751
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... ORPHA:821
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Hartsfield Syndrome
Growth delay, Bilateral tonic-clonic seizure OMIM:615465
Kabuki Syndrome 1
Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro... OMIM:147920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Snap91

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 Snap91.

No publications found that use IMPC mice or data for Snap91.

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
Snap91tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Snap91tm188445(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Snap91tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Snap91em1(IMPC)H Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter