banner
Genes Phenotypes Help, News, Blog

Gene: Pacsin1 MGI:1345181

Log in to follow

Gene Summary

Name:
protein kinase C and casein kinase substrate in neurons 1
Synonyms:
A830061D09Rik,  Syndapin I

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
increased circulating alanine transaminase level Pacsin1em1(IMPC)H HOM Early adult 5.94×10-05

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 Pacsin1 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 Pacsin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
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, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features... OMIM:615400
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure, EEG abnormality, Pac... OMIM:614115
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Abnormal cortical gyration, Infantile spasms, Bilater... ORPHA:65683
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, EEG with burst suppression, Myoclonic seizure, Hypsarrhythmia, Se... OMIM:617929
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG with abno... ORPHA:599373
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Lissencephaly 3
Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Pachygyria, Gray matter hete... OMIM:611603
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Generalized-onset seizure, Bilateral tonic-clonic seizure, Pachygyria, Cryptor... OMIM:604317
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Pachygyria, Lissencephaly, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... OMIM:266100
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Optic atr... OMIM:619701
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Hypoplastic hippocampus, To... OMIM:619606
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... OMIM:616540
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:617904
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... ORPHA:2382
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Status epilept... OMIM:609056
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Hypsarrhythmia, Lissencephaly, Myoclonus, Status e... OMIM:617507
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... OMIM:607682
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... OMIM:619317
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impair... OMIM:612691
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Hyps... OMIM:616409
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Bilateral tonic-clonic seizure, Status epilepticus, Failure to thrive, Attenua... OMIM:617082
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Slender build OMIM:617709
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
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 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:608636
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Seizure, Status epilepticus, ... ORPHA:330050
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619301
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... ORPHA:86909
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, My... OMIM:611726
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... OMIM:617711
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Optic atrophy, Macular degeneration, Seizure, Myoclonus, Rod-cone... OMIM:204200
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... ORPHA:250972
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, Optic atrophy... ORPHA:263516
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplastic hippocampus, Infantile spa... ORPHA:208447
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized ... OMIM:617976
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Bilateral tonic-clonic seizure OMIM:614322
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Hypoplastic hip... ORPHA:171680
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality OMIM:612621
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
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EEG abnorm... OMIM:617106
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Foxg1 Syndrome
Optic disc hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Sta... ORPHA:561854
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
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
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Seizure, EEG with focal slow ... ORPHA:209370
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Decreased ... OMIM:614559
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Dysplastic corpus callosum, Bilateral tonic-clonic seizure OMIM:620317
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal... OMIM:617166
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Generalized myoclonic seizure, Rod-cone dystr... OMIM:301020
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... ORPHA:140927
Febrile Seizures, Familial, 11
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:614418
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Optic atrophy, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619913
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical ... ORPHA:168491
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Cryptorchidism, Optic atroph... ORPHA:457205
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Optic atrophy, Bilateral tonic-clonic seizure OMIM:618237
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Partial agenesis of ... ORPHA:79243
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, EEG abnormality... OMIM:271980
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Abnormal lateral ventricle morphology, EEG with focal spikes, Bilateral tonic-clonic sei... ORPHA:488635
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Band Heterotopia
Hypoplastic hippocampus, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ... OMIM:600348
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Cryptorchidism, EEG abnormality, Seizure, Focal impaired awarenes... OMIM:613970
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
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
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
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 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh... OMIM:617105
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, Seizure OMIM:226750
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Brain Small Vessel Disease 2
Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:614483
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Generalized non-motor (absence)... ORPHA:485350
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... ORPHA:91131
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy OMIM:619065
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
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
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus cal... ORPHA:85179
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
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
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Hypoplastic hippocampus, Reduced amygdala volume, Tonic seizure, Focal-onset seizure, Retinal pig... OMIM:619517
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:607876
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Severe Canavan Disease
Seizure, Optic atrophy, Bilateral tonic-clonic seizure ORPHA:314911
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... OMIM:619827
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Combined Oxidative Phosphorylation Defect Type 27
Hypoplastic hippocampus, Multifocal seizures, Status epilepticus, Generalized myoclonic seizure, ... ORPHA:477774
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... ORPHA:488613
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
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Cachexia, Fatigable weakness, Fatigable weakness of neck muscles,... ORPHA:42
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Seizure, Pigmentar... ORPHA:79264
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Bilateral tonic-clonic seizure, Obesity, Seizure, Generalized myoclonic seizur... ORPHA:464282
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Dysgenesis of the hippocampus, Myoclonic seizur... OMIM:618325
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythm... OMIM:619983
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Infantile spasms, Focal impai... OMIM:617493
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Cryptorchidis... OMIM:618917
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Simplified gyral pattern, Hypsarrhythmia, Myoclo... OMIM:619877
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Stat... OMIM:612164
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-onset sei... ORPHA:163681
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Cln3 Disease
Bilateral tonic-clonic seizure, Bull's eye maculopathy, Focal-onset seizure, Optic atrophy, Myocl... ORPHA:228346
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ... OMIM:619854
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Seizure, Status epilepticus ORPHA:529665
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Abnormal hippocampus morphology, EEG with focal epileptifor... ORPHA:163921
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil... ORPHA:544503
Sarcosinemia
Optic atrophy, Bilateral tonic-clonic seizure ORPHA:3129
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Optic atrophy, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Cachexia OMIM:618093
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Hypsarrhythmia, Seizure, Focal clonic sei... OMIM:220120
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharge... OMIM:271900
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges OMIM:272300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Microcephaly-Capillary Malformation Syndrome
Hypoplastic hippocampus, Small for gestational age, Infantile spasms, Optic atrophy, Simplified g... OMIM:614261
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... ORPHA:98795
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Periventricular heterotopia, Decreased nerve co... OMIM:618733
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Early Infantile Epileptic Encephalopathy
Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, ... ORPHA:1934
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Myoclonus, EEG with occipital epi... ORPHA:254881
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Dysplastic corpus callosum, Optic ... OMIM:617281
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Seizure, Bilateral tonic-clonic seizure, Decreased testicular size ORPHA:457240
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Bilateral tonic-clonic seizure, Severe fa... ORPHA:423479
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Infantile spasms, Abnormal hippocampus morphology, Myoclonic seizure, Pac... ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus, Myoclonus... OMIM:616672
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges ORPHA:453510
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic s... OMIM:300607
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone d... OMIM:300578
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, EEG with continuous slow activity ORPHA:275864
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Obesity, Bilateral tonic-clonic seizure ORPHA:93952
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Status epilepticus, Myoclonus, Slender b... ORPHA:364028
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Failure to thrive, Bilateral ... OMIM:620024
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Seizure, Failure to thrive, Agenesis of corpus callosum, Focal my... ORPHA:481152
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto... ORPHA:79351
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Dysgenesis of the hippocampus, Cryptorchidism, Focal-onset seizur... OMIM:619435
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Dysgenesis of the hippocampus ORPHA:238722
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, EEG wi... ORPHA:457351
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Abnormal hippocampus morphology, Optic atrophy, Se... ORPHA:401777
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-motor (absence) seizur... OMIM:615398
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Optic nerve hypoplasia, Bilateral tonic-clonic seizure OMIM:618381
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus, Cherry red spot of the macula ORPHA:309155
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Retinal dystrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Failu... OMIM:615802
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Optic atrophy, Myoclonic seizure, Polymicrogyria, Decreased testi... OMIM:614222
Pontocerebellar Hypoplasia, Type 13
Failure to thrive, Lateral ventricle dilatation, Hypoplastic hippocampus, Status epilepticus OMIM:618606
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Amish Lethal Microcephaly
Agenesis of corpus callosum, Optic atrophy, Lissencephaly, Bilateral tonic-clonic seizure ORPHA:99742
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism OMIM:618316
Melas
Bilateral tonic-clonic seizure, Hypogonadotropic hypogonadism, Focal-onset seizure, Optic atrophy... ORPHA:550
Slc35A2-Cdg
Hypoplastic hippocampus, Failure to thrive in infancy, Infantile spasms, Hypsarrhythmia, EEG with... ORPHA:356961
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Optic atrophy, Hypoglycemi... ORPHA:480864
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Bilateral tonic-clonic seizure OMIM:618832
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Paucity of anterior ho... ORPHA:79139
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Generalized non-motor (absenc... ORPHA:395
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Jaberi-Elahi Syndrome
Failure to thrive, Optic atrophy, Bilateral tonic-clonic seizure OMIM:617988
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... ORPHA:268940
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Seizure, Retractile testis, Gener... OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 65
Seizure, Agenesis of corpus callosum, Infantile spasms, Dysgenesis of the hippocampus OMIM:619320
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat... OMIM:610042
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... OMIM:619580
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppress... OMIM:618143
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Generalized myoclonic ... OMIM:615501
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Seizure, Absent hippocampal commissure, Agenesis of corpus callosum OMIM:617542
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Optic disc hypoplasia, Bilateral tonic-clonic seizure ORPHA:238769
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Generalized non-motor (absence)... OMIM:620224
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Hermansky-Pudlak Syndrome 10
EEG abnormality, Ocular albinism, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Seizure, Myoclonus, EEG with s... ORPHA:247262
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, EEG abno... OMIM:617798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Dysgenesis of the hippocampus, Focal-onset seizure, Partial agenesis of t... ORPHA:300570
Sandhoff Disease
Cherry red spot of the macula, Impotence, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Retinopathy, Optic neuropathy, Bilateral tonic-clonic seizure ORPHA:478029
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
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Cryptorchidism, Seizure, Generalized m... OMIM:257300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Partial agenesi... OMIM:619512
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Optic atrophy, Pigmentary re... ORPHA:255210
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Seizure, Hypoplastic hippocampus OMIM:617780
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Optic atrophy, Focal motor se... ORPHA:79241
Bone Marrow Failure Syndrome 5
Hypogonadism, Bilateral tonic-clonic seizure, Testicular atrophy OMIM:618165
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Multifocal epil... ORPHA:369837
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Optic disc coloboma, Bilateral tonic-clonic seizure OMIM:600092
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure, Failure to thrive, ... OMIM:261515
X Small Rings
Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Primary amenorrhea, Seizure, Con... ORPHA:96201
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, EEG abnormality, Status epilepticus... ORPHA:2131
Weaver Syndrome
Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, Hydrocel... OMIM:277590
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Generalized tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Optic a... ORPHA:496641
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Optic atrophy, Bilateral tonic-clonic seizure ORPHA:329308
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
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
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus ... ORPHA:488627
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Hippocampal malrotation OMIM:614402
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Optic neuritis, Bilateral tonic-clonic seizure ORPHA:436159
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Bilateral tonic-clonic seizure, Small for g... ORPHA:268261
Hallermann-Streiff Syndrome
Small for gestational age, Bilateral tonic-clonic seizure, Cryptorchidism, Optic disc coloboma, C... OMIM:234100
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seiz... OMIM:617799
Webb-Dattani Syndrome
Cryptorchidism, Bilateral tonic-clonic seizure, Obesity OMIM:615926
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Holoprosencephaly 14
Bilateral tonic-clonic seizure, Periventricular heterotopia, Partial agenesis of the corpus callo... OMIM:619895
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Failure to thrive, Re... ORPHA:99885
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Contractures-Developmental Delay-Pierre Robin Syndrome
Focal-onset seizure, Abnormal hippocampus morphology ORPHA:436003
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, Hydrocele testis, S... OMIM:280000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy ORPHA:79124
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure, Cryptorchidism OMIM:301040
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Increased theta frequency ac... ORPHA:459070
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Obesity, Truncal... ORPHA:466950
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Febril... ORPHA:466943
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Optic atrophy, Optic neuropathy, Bilateral tonic-clonic seizure OMIM:610505
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Optic atrophy, Bilateral tonic-clonic seizure OMIM:278800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Failure to thrive, Bilateral tonic-clonic seizure, Optic neuropathy OMIM:252010
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
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
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia ORPHA:447997
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Obesity, Seizure OMIM:614947
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... ORPHA:513456
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Pitt-Hopkins Syndrome
Seizure, Hypoplastic hippocampus, Cryptorchidism OMIM:610954
Choreoacanthocytosis
Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Abnormal hippocampus morphology, Weight ... ORPHA:2388
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Hydrocele testis, Decr... OMIM:300855
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Slender build, Large for gestational age ORPHA:457359
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Increased circulating interleukin 6 concentration, Hyperkalemia, Hypocalcemia, Abno... ORPHA:544482
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Cherry red spot of the macula, Ret... ORPHA:355
Doors Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Focal impaired awareness seizure,... ORPHA:79500
Hydranencephaly
Seizure, Hypoplastic hippocampus, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Truncal obesity... OMIM:612474
Hartsfield Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Cryptorchidism OMIM:615465
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure, Hippocampal atrophy OMIM:614756
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Generalized non-motor (absence) seizure, ... OMIM:620330
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Mowat-Wilson Syndrome
EEG with spike-wave complexes, Periventricular heterotopia, Focal-onset seizure, Abnormal hippoca... ORPHA:2152
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Bilateral tonic-clonic seizure ORPHA:2751
Apert Syndrome
Cryptorchidism, Abnormal morphology of the limbic system, Agenesis of corpus callosum OMIM:101200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Periventricular heterotopia, Focal-onset seizure, Abnormal hippocampus morphol... ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Epileptic spasm, Cryptorchidism, Seizure, Myoclonus, Bilateral tonic-clonic se... ORPHA:438213
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Hypoplastic hippocampus, Abnormal cortical gyration, Focal myoclonic seizure ORPHA:314647
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Periventricular heterotopia, Focal-onset seizure, Abnormal hippocampus morphol... ORPHA:261552
Sotos Syndrome
Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, Decrease... ORPHA:821
Mowat-Wilson Syndrome
Cryptorchidism, Abnormal hippocampus morphology, Seizure, Chorioretinal coloboma, Agenesis of cor... OMIM:235730
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Cryptorchidism, Seizure, Lateral ventricle dilat... 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 Pacsin1

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 Pacsin1.

No publications found that use IMPC mice or data for Pacsin1.

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
Pacsin1em1(IMPC)H Exon Deletion Mice
Pacsin1tm380365(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter