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Gene: Tbc1d24 MGI:2443456

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Gene Summary

Name:
TBC1 domain family, member 24
Synonyms:
C530046L02Rik

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 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
Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, Focal motor seizure OMIM:608105
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... OMIM:605021
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Simple febrile seizu... ORPHA:352582
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Progressive Myoclonic Epilepsy With Dystonia
Myoclonus, Status epilepticus, Generalized myoclonic seizure ORPHA:352596
Developmental And Epileptic Encephalopathy 16
Myoclonus, Status epilepticus OMIM:615338
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
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... 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, At... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic se... OMIM:615006
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... 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
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... OMIM:615400
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:607745
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Developmental And Epileptic Encephalopathy 104
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... OMIM:619970
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... 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
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive status epil... OMIM:617389
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
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
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Myoclonus, Seizure, Bilateral tonic-clonic seizure OMIM:162350
Pyknoachondrogenesis
Stillbirth OMIM:265880
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, Focal motor seizure OMIM:608105
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Clonic seizure OMIM:266100
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... ORPHA:65683
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... OMIM:605021
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... OMIM:617831
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Status epilepticus... OMIM:616645
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:618924
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Act... OMIM:616540
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... OMIM:617113
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... ORPHA:363549
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Myoclonic status ... OMIM:611726
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infantile spasms, Epilepti... OMIM:616139
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... OMIM:617935
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Clonic seizure, Bilateral t... OMIM:619605
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:616409
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, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... OMIM:618587
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Focal aware seizure, Simple febrile seizure, Bilateral tonic-c... ORPHA:98820
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness sei... OMIM:617904
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... OMIM:614018
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:618141
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... OMIM:613855
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive... OMIM:617106
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... OMIM:619157
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... ORPHA:36387
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... OMIM:617711
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-... ORPHA:330050
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615362
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, Generalized myo... OMIM:617976
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... OMIM:619317
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619301
Guanidinoacetate Methyltransferase Deficiency
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Status ep... OMIM:619701
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:617290
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus OMIM:616230
Landau-Kleffner Syndrome
Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epilepticus witho... ORPHA:98818
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure with focal onset, Focal emotional seizure with laughing, Generaliz... OMIM:619881
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic s... OMIM:618497
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619302
Developmental And Epileptic Encephalopathy 23
Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awarenes... OMIM:615859
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Multifocal seizures OMIM:616981
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Myoclonus OMIM:301020
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Developmental And Epileptic Encephalopathy 79
Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Tonic seizure, Bilateral... OMIM:618559
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... OMIM:619616
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure OMIM:226750
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Developmental And Epileptic Encephalopathy 106
Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Polymicrogyria With Optic Nerve Hypoplasia
Infantile spasms, Bilateral tonic-clonic seizure, Seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized tonic seizure, Se... OMIM:618067
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired awareness seizure OMIM:613970
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus OMIM:617507
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic absence seizure OMIM:617836
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:204200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Neonatal death OMIM:618237
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Seizure OMIM:617933
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Eyelid myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:619913
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Clonic seizur... OMIM:618917
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Gener... OMIM:271980
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Simple febrile seizu... ORPHA:352582
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Myoclonus, Bilateral toni... OMIM:612736
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence... OMIM:617810
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:618090
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Generalized tonic seizure, Focal tonic seizure, Myoclonic status epilepticus, ... OMIM:617105
Rasmussen Subacute Encephalitis
Bilateral tonic-clonic seizure with focal onset, Epilepsia partialis continua, Generalized tonic ... ORPHA:1929
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure OMIM:604317
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... ORPHA:485350
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:300607
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:615476
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clo... OMIM:612164
Foxg1 Syndrome
Focal-onset seizure, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:561854
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Stillbirth OMIM:617468
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal motor seizure, Simple febrile sei... ORPHA:268947
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617493
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Tonic seizure OMIM:617166
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms OMIM:600721
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 with focal onset, Focal sensory seizure with visual features, Myoc... OMIM:254780
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... OMIM:618170
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:619877
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, G... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure OMIM:619827
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
New-Onset Refractory Status Epilepticus
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Status ep... ORPHA:363558
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Typical absence seizure, Seizure, Focal-onset seizure, Myo... ORPHA:168491
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Bilateral tonic-clonic seizure, Seizure OMIM:619911
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Focal myoclonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure ORPHA:464282
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:615716
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... ORPHA:501
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonatal death, Generalized myoclonic ... OMIM:615501
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus ORPHA:313772
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Dk1-Cdg
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Seizure ORPHA:91131
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Seizure ORPHA:529665
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Cln3 Disease
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure ORPHA:228346
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Inf... OMIM:618325
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
Sandhoff Disease, Infantile Form
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:309155
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... OMIM:618354
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:619983
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Bilateral tonic-clonic seizure, Seizure ORPHA:79264
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:171680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
D-Glyceric Aciduria
Seizure, Myoclonus, Focal clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure OMIM:220120
Pyruvate Dehydrogenase E1-Alpha Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Seizure ORPHA:79243
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus OMIM:619725
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Infantile spasms, Bilateral tonic-clonic seizure, Seizure ORPHA:544503
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:301091
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal aware seizure, ... OMIM:610042
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Generalized tonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... ORPHA:480864
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures ORPHA:98784
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Myoclonus ORPHA:364028
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal myoclonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus OMIM:616672
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired ... OMIM:619580
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Bilateral tonic-clonic seizure, Seizure ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... OMIM:616973
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Bilateral Polymicrogyria
Generalized-onset seizure, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral... ORPHA:268940
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Typical absence... OMIM:619777
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Generalized myoclonic seizure, Bilateral tonic-clonic seiz... ORPHA:79351
Intellectual Developmental Disorder, X-Linked 98
Generalized myoclonic seizure, Status epilepticus, Tonic seizure, Bilateral tonic-clonic seizure,... OMIM:300912
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, General... ORPHA:457351
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gene... ORPHA:395
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:617193
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Fo... OMIM:620024
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Bilateral tonic-clonic seizure, Neonatal death, Seizure OMIM:252160
Developmental And Epileptic Encephalopathy 95
Seizure, Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Multifocal seiz... OMIM:618143
Biotinidase Deficiency
Focal motor seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Infa... ORPHA:79241
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:247262
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
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
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
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
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Se... OMIM:614231
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
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
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Glass Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:612313
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
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
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Japanese Encephalitis
Bilateral tonic-clonic seizure, Status epilepticus, Focal motor seizure, Myoclonus ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 54
Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awareness seizure, Seizure OMIM:617799
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:257300
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Melas
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure ORPHA:550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Alternating Hemiplegia Of Childhood
Focal motor seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure ORPHA:2131
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:620066
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Seizure ORPHA:319213
Cocaine Intoxication
Seizure, Focal-onset seizure, Atypical absence status epilepticus, Status epilepticus, Bilateral ... ORPHA:90068
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:163681
Mitochondrial Dna-Associated Leigh Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure ORPHA:255210
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... ORPHA:466943
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:261515
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:618426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Typical absence seizure, Simple febrile seizure ORPHA:466950
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Seizure OMIM:610505
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:619512
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Multifocal seizures, Infantile spasms OMIM:301044
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Seizure, ... ORPHA:268261
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Progressive Myoclonic Epilepsy With Dystonia
Myoclonus, Status epilepticus, Generalized myoclonic seizure ORPHA:352596
Developmental And Epileptic Encephalopathy 16
Myoclonus, Status epilepticus OMIM:615338
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Seizure... ORPHA:459070
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:99885
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, 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
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Combined Oxidative Phosphorylation Deficiency 15
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:614947
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:612474
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure OMIM:614756
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
Generalized tonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Epile... ORPHA:438213
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Sotos Syndrome
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... ORPHA:821
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Seizure 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 2 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 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

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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, Tissue

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