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Gene: Tbc1d24 MGI:2443456

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Gene Summary

Name:
TBC1 domain family, member 24
Synonyms:
C530046L02Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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 Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Seizure, Focal hemifacial clonic seizure ORPHA:163727
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Status epilepticus, Myoclonus OMIM:615338
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Status epilepticus, Myoclonus ORPHA:352596
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure 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
Focal clonic seizure, Bilateral tonic-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
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
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
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
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
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
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
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
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
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
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 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... 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
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... ORPHA:599373
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
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... OMIM:617106
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... ORPHA:263516
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 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Yoon-Bellen Neurodevelopmental Syndrome
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... OMIM:619701
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
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
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
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
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... ORPHA:268947
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus ORPHA:561854
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... OMIM:612164
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure OMIM:617493
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure OMIM:617166
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... ORPHA:168491
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Seizure, Focal hemifacial clonic seizure ORPHA:163727
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:464282
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Cln3 Disease
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure ORPHA:228346
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
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
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
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
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures 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
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:79243
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus OMIM:220120
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:544503
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... OMIM:610042
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
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
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... ORPHA:480864
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... OMIM:619580
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
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:616672
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:481152
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic 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
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:617193
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... OMIM:618143
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
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
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:496641
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Intellectual Developmental Disorder, Autosomal Dominant 54
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617799
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus ORPHA:79139
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Alternating Hemiplegia Of Childhood
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus ORPHA:2131
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163681
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:255210
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Status epilepticus, Myoclonus OMIM:615338
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
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
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure OMIM:301044
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:280000
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Status epilepticus, Myoclonus ORPHA:352596
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... ORPHA:459070
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
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
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:620330
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:614756
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... 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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