Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
helt bHLH transcription factor
Synonyms:
Heslike,  megane

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Helt 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 Helt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... OMIM:245570
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Short stature, Aggressive behavior, Bilateral tonic-clo... OMIM:619639
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Slender build, Aggressive behavior OMIM:617709
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... OMIM:617171
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-on... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... OMIM:617113
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... OMIM:612691
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure OMIM:614023
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Abnormal repetitive mannerisms, In... OMIM:608636
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... OMIM:619157
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... ORPHA:2382
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Athetosis, Self-inju... ORPHA:382
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Bilateral tonic-clonic seizure, Hand tremor, Dysphagia, Recurrent hand flapping, A... OMIM:617862
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, My... OMIM:616409
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia OMIM:618924
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... ORPHA:599373
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Intrauterine growth r... OMIM:617082
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e... ORPHA:330050
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Self-injurious behavior, Focal c... OMIM:617904
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo... ORPHA:208447
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
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 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Generaliz... ORPHA:36387
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Bruxism, Myoclonic seizure, Chore... OMIM:618497
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia OMIM:619065
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... ORPHA:86909
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Bruxism, Ch... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
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
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Torticollis, Bilateral tonic-clonic seizure, Dystonia OMIM:618425
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonus, Myocl... OMIM:614018
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Self-injuriou... OMIM:618917
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive OMIM:609056
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Dystonia, Neonatal death, Intrauterine growth retardation, Failur... OMIM:618237
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Bilateral tonic-clonic seizure, Tremor, Dystonia, Generalized myoclonic seizure, M... OMIM:617836
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Focal-... ORPHA:289266
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619301
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Myoclonus OMIM:615362
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Status ep... OMIM:619701
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizur... OMIM:617711
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Generalized myoclonic seizure OMIM:618090
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Self-injurious behavior, Convulsive status epilepticus, Dystonia, Stereotypi... OMIM:618760
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder OMIM:619191
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile seizure ... OMIM:612736
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
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619302
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... OMIM:271980
Spinocerebellar Ataxia 48
Dystonia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysphagia OMIM:618093
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Epilepsy, Progressive Myoclonic, 8
Choreoathetosis, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
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
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, Generalized myoclonic seizure OMIM:301020
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Failure to... OMIM:614559
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Severe temper tantrums, Obesity, Generalized non-motor (absence) ... OMIM:619854
Spinocerebellar Ataxia, Autosomal Recessive 12
Growth delay, Bilateral tonic-clonic seizure OMIM:614322
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, M... OMIM:616981
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Athetosis, Self-injurious behavior, ... OMIM:617493
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... OMIM:619913
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Generalized non-mo... OMIM:617600
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... OMIM:300558
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperact... OMIM:619725
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... ORPHA:485350
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Dy... OMIM:613970
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... ORPHA:263516
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure ORPHA:140927
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... ORPHA:268947
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Bilateral tonic-clonic seizure ORPHA:100988
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Abnormal repetitive m... ORPHA:457240
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Bilateral tonic-clonic seizure, Obesity, Seizure, Dy... ORPHA:464282
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Severe Neonatal-Onset Encephalopathy With Microcephaly
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia ORPHA:314911
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Status epilepticus, Gen... OMIM:612164
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Focal motor seizure, Seizure, Dy... OMIM:619911
Alpers-Huttenlocher Syndrome
Choreoathetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Growth delay, Intrauterine growth retardation, Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia, Generalized myoclonic seizure OMIM:614487
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure, Action tremor OMIM:300423
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Dystonia OMIM:203740
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Dk1-Cdg
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure, Fa... ORPHA:91131
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Typical ... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth ... OMIM:300912
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Growth delay, Seizure, Bruxism OMIM:615716
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Status epilepticus, Agitation OMIM:617166
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia, Generalized myoclonic seizure ORPHA:313772
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Impulsivity, Tonic seizure, Aggressive behavior,... OMIM:619580
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Opisthotonus, Growth delay, Seizure, Focal clon... OMIM:220120
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Generalized dystonia, Bilateral tonic-clonic seizure, Agitation OMIM:272300
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Attention defici... ORPHA:98784
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure OMIM:615031
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... OMIM:618325
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Sei... OMIM:618170
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
X-Linked Intellectual Disability, Hedera Type
Obesity, Atonic seizure, Action tremor, Bilateral tonic-clonic seizure ORPHA:93952
Cln3 Disease
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonic seizure, Seiz... ORPHA:228346
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... OMIM:610042
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... OMIM:616973
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr... ORPHA:98795
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Dystonia ORPHA:457205
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Seizure, Dystonia, I... ORPHA:79243
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... ORPHA:364028
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... ORPHA:163681
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 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Growth delay, Seizure, Focal impaired awareness seizure, Failure ... ORPHA:488613
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Opisthotonus, Status epilepticus, Myoclonus, Dystonia, Failure to... OMIM:616672
Ritscher-Schinzel Syndrome 4
Short stature, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seiz... OMIM:619435
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Failure to thrive ORPHA:544503
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... ORPHA:1934
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Bilateral tonic-clonic seizure OMIM:618120
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Self-mutilation ORPHA:453510
Pelger-Huet Anomaly
Mild short stature, Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:169400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:79351
Spinocerebellar Ataxia With Epilepsy
Tremor, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Dystonia ORPHA:254881
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Aggressive behavior ORPHA:199354
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Dys... ORPHA:480864
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... OMIM:617281
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... OMIM:620024
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Opisthotonus OMIM:271900
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior,... ORPHA:2131
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropr... OMIM:615802
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Failure to thrive, Focal myoclonic ... ORPHA:481152
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ca... ORPHA:42
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Dystonia, Failure to thrive OMIM:617988
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Bilateral tonic-clonic ... ORPHA:423479
Glass Syndrome
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... OMIM:612313
Migraine, Familial Hemiplegic, 2
Tremor, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Generalized dystonia, Bilateral tonic-clonic seizure, Dysphagia ORPHA:329308
Bone Marrow Failure Syndrome 5
Growth delay, Short stature, Bilateral tonic-clonic seizure OMIM:618165
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:614207
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysphagia, Growth delay, Dystonia, Febrile seizure (within the ag... ORPHA:496641
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Aggressive behavior, Gr... OMIM:617799
Japanese Encephalitis
Bilateral tonic-clonic seizure, Anorexia, Tremor, Paucity of anterior horn motor neurons, Focal m... ORPHA:79139
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention deficit hypera... ORPHA:435638
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Warburg Micro Syndrome 3
Postnatal growth retardation, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-motor (absence) seizur... OMIM:615398
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Myoclonic spasms, Neonatal d... OMIM:252160
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... OMIM:620224
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Postnatal growth retard... OMIM:257300
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
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
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue and lips due t... ORPHA:2388
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
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Growth delay, Seizure, Generalized tonic seizure OMIM:617193
1Q44 Microdeletion Syndrome
Growth delay, Short stature, Bilateral tonic-clonic seizure ORPHA:238769
Sandhoff Disease
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Chromosome Xp11.3 Deletion Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:300578
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
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... OMIM:618143
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Seizure, Dystonia, Generalized myocl... ORPHA:255210
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
Kinsship Syndrome
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... ORPHA:466943
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia OMIM:617050
Webb-Dattani Syndrome
Short stature, Obesity, Bilateral tonic-clonic seizure OMIM:615926
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ... ORPHA:447997
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Abnormal rep... OMIM:301040
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clon... OMIM:617798
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia, Intrauterine growth retardation OMIM:610505
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hallermann-Streiff Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age, Proportionate short sta... OMIM:234100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Growth delay, Bilateral tonic-clonic seizure ORPHA:436159
Melas
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Myoclonus, Failure t... ORPHA:550
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Intrauterine growth r... ORPHA:99885
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Failure to thrive in in... ORPHA:268261
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia ORPHA:319213
Weaver Syndrome
Seizure, Polyphagia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Pseudoleprechaunism Syndrome, Patterson Type
Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Bilateral tonic-clonic seizure with focal onset, Tremor, Obesity, Seizure OMIM:614947
Cocaine Intoxication
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... ORPHA:90068
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... OMIM:620330
X Small Rings
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... ORPHA:513456
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy ORPHA:79124
De Sanctis-Cacchione Syndrome
Choreoathetosis, Severe short stature, Bilateral tonic-clonic seizure OMIM:278800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Generalized myo... ORPHA:369837
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
D-Bifunctional Protein Deficiency
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:261515
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Growt... OMIM:301044
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized my... OMIM:614756
Ogden Syndrome
Torticollis, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal ... OMIM:300855
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, Seizure, Violent be... OMIM:280000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Failure to thrive, Bilateral tonic-clonic seizure OMIM:252010
Gaucher Disease
Short stature, Bilateral tonic-clonic seizure, Tremor, Dysphagia, Delayed puberty, Generalized my... ORPHA:355
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Seizure, Delayed puberty, Febr... ORPHA:459070
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Truncal... OMIM:612474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Short stature, Dysphagia, Seizure, Myoclonus, Dyst... ORPHA:438213
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Slender build, Large for gestational age ORPHA:457359
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Hartsfield Syndrome
Growth delay, Bilateral tonic-clonic seizure OMIM:615465
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure ORPHA:2751
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... ORPHA:821
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
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 Helt

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 Helt.

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

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