Gene Summary

Name:
TBC1 domain family, member 24
Synonyms:
C530046L02Rik

IMPC Data Collections

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.

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote Ambiguous
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Forepaw

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Tbc1d24 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tbc1d24 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Clonic seizure, Myoclonus OMIM:615338
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Status epilepticus, Myoclonus ORPHA:352596
Doors Syndrome
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Seizure OMIM:220500
Deafness, Autosomal Recessive 86
OMIM:614617
Deafness, Autosomal Dominant 65
OMIM:616044

The table below shows human diseases predicted to be associated to Tbc1d24 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:616187
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Pyknoachondrogenesis
Stillbirth OMIM:265880
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-c... OMIM:611726
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse... ORPHA:2382
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:618141
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, B... ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convulsive... OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Atonic... OMIM:620145
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Stat... ORPHA:330050
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure ORPHA:140927
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Bilateral tonic-clonic seizure, Febril... ORPHA:263516
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Generalized myoclonic-atonic seizure, Infantile spasms, Bilateral tonic-cloni... OMIM:619701
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myocl... OMIM:618497
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Tonic seizure, Myoclonic seizure,... OMIM:618559
Kohlschutter-Tonz Syndrome
Seizure, Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:226750
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617290
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic s... OMIM:618012
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:617836
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Cerebral Creatine Deficiency Syndrome 2
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612736
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the... ORPHA:289266
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:613970
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the a... OMIM:618917
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Myoclonic seizure, Atonic seizure, Bilateral tonic-cloni... OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Focal tonic seizure, Bilateral tonic-clonic seizur... OMIM:617105
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Focal tonic seizure, Bilatera... ORPHA:485350
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure OMIM:617933
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:300607
Unilateral Focal Polymicrogyria
Simple febrile seizure, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure with focal o... ORPHA:268947
Foxg1 Syndrome
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:561854
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Developmental And Epileptic Encephalopathy 47
Status epilepticus, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:617166
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617493
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Cortical myoclonus, ... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617600
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:619911
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:464282
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615716
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Dk1-Cdg
Seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:91131
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic... ORPHA:363558
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Neonatal death, Bilateral tonic-clonic ... OMIM:615501
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar... OMIM:618325
Sandhoff Disease, Infantile Form
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:309155
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:620655
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Seizure, Bilater... ORPHA:98795
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619983
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:619725
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure ORPHA:98784
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:79243
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Neonatal death, Bilateral tonic-clonic seizure OMIM:620300
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:544503
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
D-Glyceric Aciduria
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure, Status epilepticus OMIM:220120
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Pitt-Hopkins-Like Syndrome 1
Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:610042
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:364028
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Clonic seizure... OMIM:619580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616672
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Seizure,... OMIM:616973
Developmental And Epileptic Encephalopathy 49
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617281
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Infantile spasms, Generalized-onset ... ORPHA:268940
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em... ORPHA:79351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615398
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater... OMIM:300912
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilateral tonic-c... OMIM:620024
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Neonatal death, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Status epilepticus, Multifocal seiz... OMIM:618143
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620224
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure... OMIM:614231
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Bilateral tonic-clonic seizure, Myoclonus OMIM:620451
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 54
Focal impaired awareness seizure, Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:617799
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Alternating Hemiplegia Of Childhood
Seizure, Focal motor seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:2131
Melas
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure... ORPHA:369837
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Cntnap2-Related Developmental And Epileptic Encephalopathy
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163681
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:255210
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:620066
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Clonic seizure, Myoclonus OMIM:615338
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Cocaine Intoxication
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:447997
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:620371
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Multifocal seizures OMIM:301044
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:280000
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Status epilepticus, Myoclonus ORPHA:352596
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age ran... ORPHA:459070
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range... OMIM:620330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Seizure, Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure OMIM:614756
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Doors Syndrome
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Seizure OMIM:220500
Deafness, Autosomal Dominant 65
OMIM:616044
Deafness, Autosomal Recessive 86
OMIM:614617

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 Tbc1d24

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 Tbc1d24.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. Genes (September 2020) Tbc1d24tm1b(EUCOMM)Hmgu PMC7598720
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. Human molecular genetics (May 2019) Tbc1d24tm1a(EUCOMM)Hmgu PMC6466106
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Human molecular genetics (February 2019) Tbc1d24tm1a(EUCOMM)Hmgu Tbc1d24tm1b(EUCOMM)Hmgu PMC6360273

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tbc1d24tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tbc1d24tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tbc1d24tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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