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Gene: Lhx6 MGI:1306803

Gene Summary

Name:

LIM homeobox protein 6

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Lhx6^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased locomotor activity	Lhx6^{tm1b(KOMP)Wtsi}	HET	Early adult	5.95×10^-06
preweaning lethality, complete penetrance	Lhx6^{tm1b(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

View images

Embryo LacZ

LacZ images wholemount

20 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View 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.

Human diseases associated with Lhx6 (0 diseases)
Human diseases predicted to be associated with Lhx6 (608 diseases)

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	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
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
Developmental And Epileptic Encephalopathy 49	Myoclonic seizure, Myoclonus, Tonic seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Cloni...	OMIM:617281
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu...	OMIM:620504
D-Glyceric Aciduria	Seizure, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:220120
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure	OMIM:169400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Epileptic spasm, Tonic seizure, Clonic seizure, Bilateral tonic-clonic seizure...	OMIM:619580
Angelman Syndrome	Seizure, Infantile spasms, Myoclonus, Atonic seizure, Atypical absence seizure, Status epilepticu...	ORPHA:72
Bilateral Polymicrogyria	Seizure, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic...	ORPHA:268940
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
X-Linked Intellectual Disability Due To Gria3 Mutations	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Seizure	ORPHA:364028
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Combined Oxidative Phosphorylation Deficiency 27	Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:616672
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure	ORPHA:453510
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Migraine, Familial Hemiplegic, 2	Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:602481
Amish Lethal Microcephaly	Spina bifida, Bilateral tonic-clonic seizure	ORPHA:99742
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Biotinidase Deficiency	Myelopathy, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Gener...	ORPHA:79241
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:620070
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Pachygyria, Partial agenesis of t...	OMIM:614643
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset...	ORPHA:163681
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure	ORPHA:481152
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:899
Weaver Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:277590
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Seizure	OMIM:620300
1Q44 Microdeletion Syndrome	Hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:238769
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized non-motor (absence) seizure, Fatigable weakness of speech muscles, Infantile spasms, ...	ORPHA:404454
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Bilateral tonic-clonic seizure, Epileptic spasm, Generalized tonic seizure, Seizure	OMIM:617193
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr...	OMIM:615219
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General...	ORPHA:369837
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619435
Kinsship Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s...	OMIM:619297
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:370959
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:466943
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s...	OMIM:620455
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Tay-Sachs Disease	Myoclonus, Typical absence seizure, Focal impaired awareness seizure, Seizure	ORPHA:845
Warburg Micro Syndrome 3	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:614222
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure	ORPHA:258
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t...	OMIM:614231
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Chiari Malformation Type Ii	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:207950
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Seizure	OMIM:618343
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:35107
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
Developmental And Epileptic Encephalopathy 95	Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Multifocal seizures, Status epilept...	OMIM:618143
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:615474
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Hermansky-Pudlak Syndrome 10	Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure	ORPHA:423479
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Polymic...	OMIM:619775
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Japanese Encephalitis	Myoclonus, Bilateral tonic-clonic seizure, Paucity of anterior horn motor neurons, Focal motor se...	ORPHA:79139
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Sandhoff Disease	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:268800
Hyperphosphatasia-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Seizure	ORPHA:247262
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Generalized tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range ...	ORPHA:496641
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure wit...	OMIM:620024
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Hydrocephalus, Generalized myoclonic seizure, Seizure	OMIM:257300
Glass Syndrome	Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:612313
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Myoclonus, Bilateral tonic-clonic seizure	OMIM:620451
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618733
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum	ORPHA:157
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Molybdenum Cofactor Deficiency, Type B	Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms	OMIM:252160
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Intellectual Developmental Disorder, Autosomal Dominant 54	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Atonic seizure	OMIM:617799
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:1493
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:513456
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:620066
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Holoprosencephaly 14	Alobar holoprosencephaly, Hydrocephalus, Bilateral tonic-clonic seizure, Aqueductal stenosis, Hol...	OMIM:619895
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Periventricular heterotopia	OMIM:619833
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic seizure, Seizure	ORPHA:255210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus callosum	OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum	ORPHA:228308
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ...	ORPHA:268261
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus, Seizure	ORPHA:2131
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Melas	Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure	ORPHA:550
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Myoclonic seizure, Tonic seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Aqueductal stenosis	OMIM:619512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Seizure	OMIM:301040
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Neonatal death	OMIM:187600
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2671
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Lujo Hemorrhagic Fever	Bilateral tonic-clonic seizure, Seizure	ORPHA:319213
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Agenesis of corpus callosum	ORPHA:261236
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Myoclonus, Seizure	OMIM:618426
Joubert Syndrome	Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Seizure	OMIM:610505
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms	ORPHA:447997
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620371
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria	ORPHA:2065
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:261515
Hartsfield Syndrome	Alobar holoprosencephaly, Lobar holoprosencephaly, Bilateral tonic-clonic seizure, Semilobar holo...	OMIM:615465
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra...	ORPHA:75857
Cocaine Intoxication	Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus...	ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri...	OMIM:620330
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Hallermann-Streiff Syndrome	Spina bifida, Bilateral tonic-clonic seizure	OMIM:234100
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:99885
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:2636
Helsmoortel-Van Der Aa Syndrome	Tonic seizure, Typical absence seizure, Seizure	OMIM:615873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Typical absence seizure, Seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Typical absence seizure, Seizure	ORPHA:352665
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifoca...	OMIM:301044
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:612474
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure	OMIM:278800
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618476
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Typical absence seizure, Focal-onset seizure, Atonic seizure	OMIM:617157
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure...	ORPHA:459070
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia	ORPHA:261250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure	OMIM:280000
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:457359
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencepha...	ORPHA:468631
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure	OMIM:252010
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Aicardi Syndrome	Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Partial agenesis of the corpus callosum...	OMIM:304050
Combined Oxidative Phosphorylation Deficiency 15	Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:614947
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Pachygyria	OMIM:251300
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte...	OMIM:618820
Ogden Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:300855
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration, Hypothalamic hamartoma, Agenesis of corpus c...	OMIM:311200
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-...	ORPHA:821
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Agenesis of...	OMIM:210710
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Gaucher Disease	Hydrocephalus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:355
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure	OMIM:614756
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Doors Syndrome	Spina bifida occulta, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Holoprosencephaly	Abnormality of neuronal migration	ORPHA:2162
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum	OMIM:603671
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Stillbirth, Agenesis of corpus callosum	OMIM:236680
Choreoacanthocytosis	Bilateral tonic-clonic seizure, Seizure	ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myoclonus, Generalized ton...	ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:615287
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Kabuki Syndrome 1	Hydrocephalus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:147920
Mowat-Wilson Syndrome	Atypical absence seizure, Status epilepticus, Seizure, Focal-onset seizure	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Atypical absence seizure, Focal-onset seizure, Seizure	ORPHA:261537
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Neonatal death	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia, P...	OMIM:615948
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Atypical absence seizure, Focal-onset seizure, Seizure	ORPHA:261552
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Smith-Lemli-Opitz Syndrome	Colpocephaly, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:270400
Genitopatellar Syndrome	Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:606170
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Periventricular heterotopia	ORPHA:434179
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Alström Syndrome	Typical absence seizure	ORPHA:64

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 Lhx6

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 Lhx6.

No publications found that use IMPC mice or data for Lhx6.

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MGI Allele	Allele Type	Produced
Lhx6^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Lhx6^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Lhx6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lhx6 MGI:1306803

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Embryo LacZ

MicroCT E14.5-E15.5

X-ray

X-ray

Human diseases caused by Lhx6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data