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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
preweaning lethality, complete penetrance	Lhx6^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased locomotor activity	Lhx6^{tm1b(KOMP)Wtsi}	HET	Early adult	4.78×10^-06

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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	Section images	heterozygote	33.33% (1 of 3)
Brain	Section images	heterozygote	100% (3 of 3)
Epididymis	Section images	heterozygote	100% (1 of 1)
Ileum	Section images	heterozygote	100% (1 of 1)
Mesenteric adipose tissue	Section images	heterozygote	100% (1 of 1)
Midbrain	Section images	heterozygote	100% (1 of 1)
Quadriceps	Section images	heterozygote	100% (1 of 1)
Testis	Section images	heterozygote	66.67% (2 of 3)
Tongue	Section images	heterozygote	100% (3 of 3)
Trachea	Section images	heterozygote	33.33% (1 of 3)
Vas deferens	Section images	heterozygote	100% (1 of 1)
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)
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)
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)
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 lymph node	N/A	heterozygote	Not available
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)
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)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	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
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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

Embryo LacZ

LacZ images wholemount

20 Images

View images

Adult LacZ

LacZ Images Section

27 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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 (592 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	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my...	OMIM:266100
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure	OMIM:618596
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
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	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Myoclonic-Atonic Epilepsy	Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,...	OMIM:616421
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta...	OMIM:614018
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge...	ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:616187
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:162350
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize...	ORPHA:98818
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ...	OMIM:611726
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act...	OMIM:616540
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa...	OMIM:617904
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure	OMIM:617709
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus	OMIM:618924
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr...	OMIM:605021
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617171
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ...	OMIM:617665
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure	OMIM:619639
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Epilepsy, Familial Temporal Lobe, 4	Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features	OMIM:611631
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S...	OMIM:616645
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s...	OMIM:204300
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My...	OMIM:616139
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Chudley-Mccullough Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corp...	OMIM:604213
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Stxbp1-Related Encephalopathy	Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s...	ORPHA:599373
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, Bilateral tonic-clonic seizure	OMIM:608636
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	ORPHA:208441
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti...	OMIM:271980
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure	OMIM:613886
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:35878
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:617836
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S...	ORPHA:330050
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms	OMIM:602066
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa...	OMIM:617106
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se...	OMIM:617976
Glycosylphosphatidylinositol Biosynthesis Defect 15	Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni...	OMIM:617810
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Myoclonic s...	OMIM:619302
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Dravet Syndrome	Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,...	ORPHA:33069
Paroxysmal Exertion-Induced Dyskinesia	Seizure, Generalized non-motor (absence) seizure	ORPHA:98811
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Yoon-Bellen Neurodevelopmental Syndrome	Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep...	OMIM:619701
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ...	ORPHA:382
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General...	OMIM:619913
Pontocerebellar Hypoplasia, Type 14	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure	OMIM:619301
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619191
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615362
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus	ORPHA:86814
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Band Heterotopia	Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr...	OMIM:600348
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:301020
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus	OMIM:616230
Progressive Myoclonic Epilepsy Type 3	Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb...	ORPHA:263516
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure	ORPHA:140927
Spinocerebellar Ataxia, Autosomal Recessive 12	Bilateral tonic-clonic seizure	OMIM:614322
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:618856
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ...	ORPHA:485350
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Bilateral tonic-clonic seizure	OMIM:620317
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl...	OMIM:618497
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ...	ORPHA:3006
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:609056
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Generalized non-motor (absence) seizure	OMIM:616033
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Intellectual Developmental Disorder, X-Linked 30	Seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure	OMIM:618425
Developmental And Epileptic Encephalopathy 37	Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus	OMIM:616981
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc...	ORPHA:411986
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:618090
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Kohlschutter-Tonz Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:226750
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus	OMIM:613970
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure	OMIM:617862
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus	OMIM:617290
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:204200
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:618170
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ...	ORPHA:289266
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal...	OMIM:617600
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure	OMIM:620028
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619065
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F...	ORPHA:1942
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Cerebral Creatine Deficiency Syndrome 2	Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo...	OMIM:612736
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:301058
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Bilateral tonic-clonic seizure	ORPHA:209370
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni...	OMIM:617105
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu...	OMIM:618917
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Autosomal Dominant Spastic Paraplegia Type 6	Bilateral tonic-clonic seizure	ORPHA:100988
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei...	ORPHA:268947
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:726
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur...	OMIM:612164
Severe Canavan Disease	Seizure, Bilateral tonic-clonic seizure	ORPHA:314911
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure	OMIM:618729
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure	OMIM:617493
Developmental And Epileptic Encephalopathy 61	Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure	ORPHA:544254
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure...	ORPHA:168491
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms	ORPHA:467166
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Convulsive status epilepticus	OMIM:618760
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure	ORPHA:576283
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure	OMIM:618237
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Bilateral tonic-clonic seizure	ORPHA:488635
Muscular Dystrophy, Congenital, With Or Without Seizures	Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni...	OMIM:620166
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Seizure, Bilateral tonic-clonic seizure	OMIM:300423
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus	ORPHA:561854
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra...	OMIM:616212
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Developmental And Epileptic Encephalopathy 110	Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure	OMIM:620149
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater...	ORPHA:98795
Sarcosinemia	Bilateral tonic-clonic seizure	ORPHA:3129
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus	OMIM:613839
Periventricular Nodular Heterotopia 7	Seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:617201
Developmental And Epileptic Encephalopathy 47	Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:617166
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:619827
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure	OMIM:615031
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
2,4-Dienoyl-Coa Reductase Deficiency	Seizure, Hydrocephalus, Myoclonic absence seizure	OMIM:616034
Hyperprolinemia Type 2	Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei...	ORPHA:79101
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614487
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc...	ORPHA:95232
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure	OMIM:600721
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure	ORPHA:464282
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure	OMIM:618093
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:619911
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615716
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:313772
Subependymal Nodular Heterotopia	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ...	ORPHA:101030
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:619877
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Dk1-Cdg	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:91131
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus, Generalized non-motor (absenc...	ORPHA:395
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar...	OMIM:618325
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure	ORPHA:457205
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:529665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619983
Cln3 Disease	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	ORPHA:228346
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis...	ORPHA:89844
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General...	ORPHA:79351
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Myoclonus	OMIM:607876
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni...	ORPHA:42
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Sulfite Oxidase Deficiency, Isolated	Bilateral tonic-clonic seizure	OMIM:272300
Sandhoff Disease, Infantile Form	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	ORPHA:309155
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure	OMIM:615398
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure	OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 42	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-...	OMIM:616973
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ...	OMIM:300912
Den Hoed-De Boer-Voisin Syndrome	Generalized clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Nocturn...	OMIM:619229
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:615501
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures	OMIM:619725
X-Linked Intellectual Disability, Hedera Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:93952
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F...	OMIM:610042
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure	OMIM:612337
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	ORPHA:488613
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure	OMIM:271900
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure	ORPHA:275864
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Bilateral tonic-clonic seizure	ORPHA:457240
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure	ORPHA:98784
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure...	ORPHA:1934
Dpm1-Cdg	Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized...	ORPHA:79322
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:79243
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Spina bifida occulta, Generalized non-motor (absence) seizure	OMIM:617360
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus	OMIM:220120
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei...	ORPHA:480864
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:620224
Intellectual Developmental Disorder, Autosomal Dominant 53	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:617798
Kleefstra Syndrome Due To 9Q34 Microdeletion	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:96147
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:544503
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus	ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Bilateral tonic-clonic seizure	ORPHA:199354
Developmental And Epileptic Encephalopathy 49	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hydrocephalus, Myoclonic seizure, ...	OMIM:617281
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure	ORPHA:369929
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure...	OMIM:619580
Pelger-Huet Anomaly	Seizure, Bilateral tonic-clonic seizure	OMIM:169400
Angelman Syndrome	Infantile spasms, Seizure, Status epilepticus, Myoclonus, Atypical absence seizure, Generalized m...	ORPHA:72
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:268940
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	ORPHA:364028
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:616672
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure	ORPHA:453510
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:602481
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:620070
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia...	OMIM:614643
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Focal motor seizure, Seizure, Gener...	ORPHA:79241
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure	ORPHA:481152
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Spina bifida	ORPHA:99742
Weaver Syndrome	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:277590
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure	ORPHA:369840
1Q44 Microdeletion Syndrome	Hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:238769
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Genera...	ORPHA:404454
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:369837
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619435
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure	OMIM:617193
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Kinsship Syndrome	Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo...	OMIM:619297
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Cntnap2-Related Developmental And Epileptic Encephalopathy	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron mo...	ORPHA:163681
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu...	OMIM:615219
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:466943
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly	ORPHA:370959
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:614222
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Tay-Sachs Disease	Seizure, Typical absence seizure, Focal impaired awareness seizure, Myoclonus	ORPHA:845
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure	ORPHA:258
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure	OMIM:618343
Chiari Malformation Type Ii	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:207950
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept...	OMIM:618143
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615474
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure	ORPHA:423479
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha...	OMIM:619775
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Hermansky-Pudlak Syndrome 10	Bilateral tonic-clonic seizure, Focal myoclonic seizure	OMIM:617050
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Sandhoff Disease	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:268800
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:247262
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni...	OMIM:620024
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	ORPHA:496641
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:612313
Mosaic Variegated Aneuploidy Syndrome 1	Generalized myoclonic seizure, Seizure, Hydrocephalus, Bilateral tonic-clonic seizure	OMIM:257300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Japanese Encephalitis	Bilateral tonic-clonic seizure, Paucity of anterior horn motor neurons, Focal motor seizure, Stat...	ORPHA:79139
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618733
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:157
Intellectual Developmental Disorder, Autosomal Dominant 54	Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617799
Molybdenum Cofactor Deficiency, Complementation Group B	Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	OMIM:252160
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:1493
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:513456
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure	OMIM:620066
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Holoprosencephaly 14	Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Hol...	OMIM:619895
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Periventricular heterotopia	OMIM:619833
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:228308
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ...	ORPHA:268261
Mitochondrial Dna-Associated Leigh Syndrome	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:255210
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Melas	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:550
Alternating Hemiplegia Of Childhood	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus	ORPHA:2131
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Seizure, Bilateral tonic-clonic seizure	OMIM:301040
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hydrocephalus, Myoclonic seizure	OMIM:619512
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia	OMIM:187600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:261236
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:618426
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure	ORPHA:319213
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:488627
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
D-Bifunctional Protein Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Hartsfield Syndrome	Semilobar holoprosencephaly, Bilateral tonic-clonic seizure, Lobar holoprosencephaly, Alobar holo...	OMIM:615465
Combined Oxidative Phosphorylation Deficiency 3	Seizure, Bilateral tonic-clonic seizure	OMIM:610505
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Cocaine Intoxication	Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure...	ORPHA:90068
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms	ORPHA:447997
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Seizure, Typical absence seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Seizure, Typical absence seizure	ORPHA:352665
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Spina bifida	OMIM:234100
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:620330
Helsmoortel-Van Der Aa Syndrome	Seizure, Typical absence seizure, Tonic seizure	OMIM:615873
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu...	OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:99885
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure	OMIM:278800
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618476
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Focal-onset seizure, Typical absence seizure, Atonic seizure	OMIM:617157
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran...	ORPHA:459070
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia	ORPHA:261250
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:280000
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum	OMIM:603671
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:457359
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,...	ORPHA:468631
Aicardi Syndrome	Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle dilatation, P...	OMIM:304050
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:614947
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure	OMIM:252010
Gaucher Disease	Generalized myoclonic seizure, Hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:355
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co...	OMIM:618820
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Sotos Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ...	ORPHA:821
Ogden Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microlissencephaly, Gray mat...	OMIM:210710
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Orofaciodigital Syndrome I	Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha...	OMIM:311200
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:614756
Doors Syndrome	Spina bifida occulta, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
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
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly	OMIM:615287
Hydrolethalus Syndrome 1	Gray matter heterotopia, Stillbirth, Agenesis of corpus callosum, Abnormal cortical gyration	OMIM:236680
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton...	ORPHA:438213
Choreoacanthocytosis	Seizure, Bilateral tonic-clonic seizure	ORPHA:2388
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Mowat-Wilson Syndrome	Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261537
Fontaine Progeroid Syndrome	Neonatal death, Gray matter heterotopia, Periventricular heterotopia	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Kabuki Syndrome 1	Seizure, Hydrocephalus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foc...	OMIM:147920
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula...	OMIM:615948
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261552
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Smith-Lemli-Opitz Syndrome	Partial agenesis of the corpus callosum, Colpocephaly, Periventricular heterotopia	OMIM:270400
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	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

X-ray

Embryo LacZ

Adult LacZ

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Lhx6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data