Gene Summary

Name:
TBC1 domain family, member 24
Synonyms:
C530046L02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (3 of 443)
aorta 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cecum 4.84% (14 of 289)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
esophagus 1.63% (5 of 307)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
mesenteric lymph node 0.42% (1 of 240)
olfactory lobe 0.22% (1 of 446)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.44% (2 of 459)
vas deferens 4.66% (13 of 279)
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 Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Tbc1d24 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Limb myoclo... ORPHA:352582
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Focal-onset seizure, Focal hemifacial clonic seizure, Seizure OMIM:608105
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Myoclonus, Generalized myoclonic seizure ORPHA:352596
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Myoclonus OMIM:615338
Doors Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:79500
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, 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, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
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, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
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
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... 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 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
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, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
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)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure,... OMIM:611726
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:101071
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus OMIM:616230
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure OMIM:619000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral to... ORPHA:330050
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Progressive Myoclonic Epilepsy Type 3
Myoclonus, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:263516
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Bilateral... OMIM:619317
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-... ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Developmental And Epileptic Encephalopathy 37
Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Multifocal seizures OMIM:616981
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atoni... OMIM:619701
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 79
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Migrati... OMIM:618559
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Generalized myoclonic seizure OMIM:617836
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:613970
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:204200
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... OMIM:612736
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Myoclo... OMIM:619913
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... ORPHA:289266
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Neonatal death OMIM:618237
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Limb myoclo... ORPHA:352582
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Clonic seizure, Tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:618917
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Bilateral tonic-... ORPHA:363558
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bi... OMIM:612164
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, S... OMIM:610539
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Focal motor seizure, Bilateral tonic-clonic se... ORPHA:1929
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Ge... ORPHA:485350
Foxg1 Syndrome
Status epilepticus, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:561854
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Stillbirth, Focal impaired awareness seizure OMIM:617468
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Unilateral Focal Polymicrogyria
Focal motor seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:268947
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:619428
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, ... ORPHA:1947
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei... OMIM:618170
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Myocl... 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
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure ORPHA:464282
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bilateral tonic-clonic seizure, Generalized-onset seizure, Seizure OMIM:619827
Dentici-Novelli Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Epileptic spasm OMIM:619877
Intellectual Developmental Disorder, Autosomal Dominant 45
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... OMIM:617600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Seizure ORPHA:529665
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure ORPHA:163727
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... ORPHA:501
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Focal-onset seizure ORPHA:91131
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Generalized-onset seizure, Neonatal death, Generalized myoclonic ... OMIM:615501
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... ORPHA:98795
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Focal-onset seizure, Focal hemifacial clonic seizure, Seizure OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:619983
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Myoclonic spasms, Seizure ORPHA:79264
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
D-Glyceric Aciduria
Status epilepticus, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:220120
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Canavan Disease
Bilateral tonic-clonic seizure, Epileptic spasm OMIM:271900
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus OMIM:619725
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:544503
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan... ORPHA:480864
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Epileptic spa... OMIM:619580
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:364028
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Bilateral Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:268940
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:79243
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, T... OMIM:616973
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoc... ORPHA:72
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, G... ORPHA:79351
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... OMIM:300912
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Tonic seizure, Myoclonus, Infantile spasms, Myoclonic seizure, Myoclonic... OMIM:619777
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure ORPHA:481152
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:435638
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:395
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized non-... ORPHA:457351
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure OMIM:617193
Developmental And Epileptic Encephalopathy 95
Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seiz... OMIM:618143
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized tonic seizure, Myoclonus, Infantile spasms, Febrile seizure (within t... ORPHA:1934
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:620024
Biotinidase Deficiency
Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:79241
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Hyperphosphatasia-Intellectual Disability Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:247262
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
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
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
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
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
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
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:617799
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:79139
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:277590
Melas
Myoclonus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure ORPHA:550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:369837
Alternating Hemiplegia Of Childhood
Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure ORPHA:2131
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Kinsship Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s... OMIM:619297
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic seizure, Seizure ORPHA:255210
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bilateral tonic-clonic seizure, Generalized-onset seizure, Atonic seizure OMIM:620066
Cocaine Intoxication
Status epilepticus, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Focal-on... ORPHA:90068
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:163681
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, Ge... ORPHA:466943
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Seizure ORPHA:319213
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:261515
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
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, Myoclonic seizure, Tonic seizure OMIM:619512
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
Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seizures OMIM:301044
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Atonic seizure, Generalized myoclonic seizure, Febrile seizure (within t... ORPHA:268261
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:257300
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Generalized tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... 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, Ge... ORPHA:513456
Ogden Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:300855
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Myoclonus, Generalized myoclonic seizure ORPHA:352596
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Myoclonus OMIM:615338
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:614756
Doors Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Myoclonus, Epileptic spasm, Bilateral tonic-clonic seizure on awakenin... ORPHA:438213
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Sotos Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Seizure OMIM:147920
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Seizure OMIM:220500
Deafness, Autosomal Recessive 86
OMIM:614617
Deafness, Autosomal Dominant 65
OMIM:616044

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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