Gene Summary

Name:
LIM homeobox protein 6
Synonyms:
N/A

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Lhx6tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased locomotor activity Lhx6tm1b(KOMP)Wtsi HET   Early adult 5.95×10-06
preweaning lethality, complete penetrance Lhx6tm1b(KOMP)Wtsi HOM Early adult 0.00

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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
Adrenal gland N/A heterozygote 33.33% (1 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote 0.0% (0 of 3)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote 66.67% (2 of 3)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote 100% (1 of 1)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 3)
Hypothalamus N/A heterozygote 66.67% (2 of 3)
Ileum N/A heterozygote 100% (1 of 1)
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 100% (1 of 1)
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 33.33% (1 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 33.33% (1 of 3)
Quadriceps N/A heterozygote 100% (1 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 66.67% (2 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 66.67% (2 of 3)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 100% (3 of 3)
Trachea N/A heterozygote 33.33% (1 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 100% (1 of 1)
Vascular system N/A heterozygote 0.0% (0 of 3)
Vesicular gland N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 3)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 66.67% (2 of 3)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 66.67% (2 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 66.67% (2 of 3)
Chorioallantoic placenta N/A homozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

27 Images

Embryo LacZ

LacZ images wholemount

20 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Lhx6 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lhx6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Hydrocephalus, Clonic seizure, Bilateral tonic-clonic seizure, Sta... OMIM:266100
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Abnormal lower motor... ORPHA:2590
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... OMIM:616421
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:611726
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Status ... OMIM:617665
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol... OMIM:604213
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, S... ORPHA:330050
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure OMIM:602066
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t... OMIM:617106
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Hydrocephalus, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:619301
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Hydrocephalus, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:619302
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic-atoni... OMIM:619701
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure OMIM:615362
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure ORPHA:86814
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure OMIM:301020
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Benign Familial Neonatal-Infantile Seizures
Focal clonic seizure, Tonic seizure, Neonatal seizure, Bilateral tonic-clonic seizure ORPHA:140927
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... OMIM:600348
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure OMIM:620317
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Hydrocephalus, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure OMIM:616981
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure, Seizure OMIM:226750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:613970
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:204200
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:617600
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni... OMIM:612736
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clo... ORPHA:1942
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Clonic seizure, Bil... OMIM:618917
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:352582
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Seizure ORPHA:209370
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a... ORPHA:1929
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor sei... ORPHA:268947
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617493
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure ORPHA:467166
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset seizure, Focal tonic ... ORPHA:168491
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Myoclonic seizure, Focal-onset seizure, Generalized non-motor (absence... OMIM:620166
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Foxg1 Syndrome
Infantile spasms, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:561854
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Developmental And Epileptic Encephalopathy 110
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Periventricular Nodular Heterotopia 7
Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:617201
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Developmental And Epileptic Encephalopathy 47
Tonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:617166
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Seizure, Bilateral tonic-clonic seizure OMIM:619827
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614487
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Hydrocephalus, Seizure OMIM:616034
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure ORPHA:464282
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se... ORPHA:95232
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure OMIM:600721
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Focal motor seizure, Seizure OMIM:619911
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:615716
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s... ORPHA:363558
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... ORPHA:101030
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:313772
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Seizure ORPHA:529665
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure ORPHA:91131
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awar... OMIM:618325
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Hydrocephalus, Bilateral t... ORPHA:395
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ... ORPHA:79351
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Tonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300260
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:617622
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure ORPHA:309155
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:457351
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Fatigable weakness, Bilateral tonic-clonic seizure, Febrile s... ORPHA:42
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei... OMIM:616973
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure OMIM:619725
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615802
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:300912
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset... OMIM:619229
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms ORPHA:79264
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Early Infantile Epileptic Encephalopathy
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:1934
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Dpm1-Cdg
Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo... ORPHA:79322
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:79243
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral to... ORPHA:480864
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:544503
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Seizure, Generalized non-motor (absence) seizure OMIM:617360
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:620224
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:617798
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:96147
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Bilateral tonic-clonic seizure with focal onset ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381