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Gene: Kcnt1 MGI:1924627

Gene Summary

Name:

potassium channel, subfamily T, member 1

Synonyms:

Slack, C030030G16Rik, slo2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal eye morphology	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	6.81×10^-07
decreased anxiety-related response	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	2.89×10^-05
decreased exploration in new environment	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-10
decreased locomotor activity	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	1.97×10^-10
abnormal spleen morphology	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased thigmotaxis	Kcnt1^em1(IMPC)Mbp	HOM	Early adult	6.39×10^-07

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lacZ Expression

Expression data not available

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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Kcnt1 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 Kcnt1 (4 diseases)
Human diseases predicted to be associated with Kcnt1 (579 diseases)

The table below shows human diseases associated to Kcnt1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Epilepsy, Nocturnal Frontal Lobe, 5	Status epilepticus, Aggressive behavior, Focal-onset seizure, Depression	OMIM:615005
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Focal hemiclonic seizure, C...	ORPHA:293181
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Nocturnal seizures, Cogniti...	ORPHA:98784
Developmental And Epileptic Encephalopathy 14	Focal autonomic seizure, Focal motor seizure, Generalized tonic seizure, Status epilepticus	OMIM:614959

The table below shows human diseases predicted to be associated to Kcnt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder, X-Linked 96	Seizure	OMIM:300802
Kifafa Seizure Disorder	Seizure	OMIM:245180
Intellectual Developmental Disorder, X-Linked 88	Seizure	OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3	Seizure	OMIM:612580
15q13.3 microdeletion syndrome	Seizure	DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3	Seizure	OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 10	Seizure	OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10	Seizure	OMIM:614256
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Epilepsy, Nocturnal Frontal Lobe, 2	Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Polymicrogyria, Bilateral Temporooccipital	Focal impaired awareness seizure, Polymicrogyria, Bilateral tonic-clonic seizure with focal onset...	OMIM:612691
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
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:608636
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Isolated Focal Cortical Dysplasia	Abnormal cortical gyration, Focal impaired awareness seizure, Seizure, Generalized-onset seizure,...	ORPHA:65683
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status...	OMIM:617171
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Irritability, Tonic seizure, Bilateral ...	OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 1	Focal-onset seizure, Seizure	OMIM:600513
Polymicrogyria, Bilateral Perisylvian, X-Linked	Polymicrogyria, Pseudobulbar paralysis, Cognitive impairment, Bilateral tonic-clonic seizure, Aty...	OMIM:300388
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil...	OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure	OMIM:617863
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure	OMIM:619639
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi...	ORPHA:101046
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic...	OMIM:618357
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
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-...	OMIM:616056
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Restlessness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Irritability	OMIM:610003
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior, Hyperactivity, Seizure	ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Seizure, Hyperactivity	OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Lissencephaly, Seizure, Pachygyria	OMIM:614499
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:607373
Autism	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:209850
Developmental And Epileptic Encephalopathy 98	Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo...	OMIM:619605
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Seizure, Hyperactivity	ORPHA:356996
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit ...	OMIM:245570
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se...	ORPHA:725
Intellectual Developmental Disorder, Autosomal Recessive 64	Aggressive behavior, Reduced social reciprocity, Seizure	OMIM:618103
Lennox-Gastaut Syndrome	Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Aggressive behavior, Hyp...	ORPHA:2382
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate...	OMIM:617389
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:86909
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Aggressive behavior, Bilateral tonic-clonic seizure	OMIM:617709
Dravet Syndrome	Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor ...	OMIM:607208
Developmental And Epileptic Encephalopathy 31A	Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni...	OMIM:616346
Landau-Kleffner Syndrome	Memory impairment, Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Gener...	ORPHA:98818
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Cortical Malformations, Occipital	Pachygyria, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Polymicr...	OMIM:614115
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t...	ORPHA:208441
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure	OMIM:616187
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Mental deterioration, Myoclonus, Status epilepticus without prominent motor symptoms, Bilateral t...	OMIM:204300
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate...	OMIM:616409
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Dementia	OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Epilepsy, Progressive Myoclonic, 12	Attention deficit hyperactivity disorder, Depression, Myoclonus, Bilateral tonic-clonic seizure	OMIM:619191
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity, Seizure	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Pachygyria, Generali...	OMIM:619827
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure	ORPHA:22
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ...	OMIM:617935
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure	OMIM:309530
Familial Focal Epilepsy With Variable Foci	Polymicrogyria, Infantile spasms, Focal-onset seizure, Simple febrile seizure, Deja vu aura, Noct...	ORPHA:98820
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti...	OMIM:619157
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ...	OMIM:618873
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Seizure, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity	OMIM:620448
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Lissencephaly, Seizure, Polymicrogyria, Generalized-onset seizure, Self-mutilation, Abnormality o...	OMIM:604317
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity	OMIM:619031
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-c...	OMIM:617904
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
Myoclonic Epilepsy Of Unverricht And Lundborg	Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ...	OMIM:254800
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Generalized myoclonic seizure, Seizure, Aggressive behavior, Hyperactivi...	ORPHA:382
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:613721
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Lissencephaly 3	Seizure, Polymicrogyria, Periventricular laminar heterotopia, Generalized tonic seizure, Bilatera...	OMIM:611603
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac...	OMIM:301008
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Schizophrenia 15	Hyperactivity	OMIM:613950
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Generalized-onset seizure, Hyperactivity, Seizure, Irritability	OMIM:616657
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Mental deterioration, Seizure, Confusion, Myoclonus, Bilateral tonic-clonic seizure, Dementia, Fo...	OMIM:615362
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ...	ORPHA:36387
Stxbp1-Related Encephalopathy	Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant...	ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, Short attention span, Focal-onset seizure, Seizure	ORPHA:163721
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Epilepsy, Progressive Myoclonic, 6	Memory impairment, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei...	OMIM:614018
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc...	OMIM:616540
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Dela...	OMIM:618090
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Seizure	OMIM:615127
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
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, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic...	OMIM:618141
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H...	OMIM:620145
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure, Pachygyria	OMIM:600176
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure	OMIM:117100
Epilepsy, Progressive Myoclonic, 8	Progressive neurologic deterioration, Myoclonus, Bilateral tonic-clonic seizure, Dementia, Action...	OMIM:616230
Rolandic Epilepsy	Depression, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic...	ORPHA:1945
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Delayed early-childhood social milestone development, Bilate...	OMIM:619301
Hartnup Disorder	Seizure, Emotional lability, Generalized tonic seizure, Attention deficit hyperactivity disorder,...	OMIM:234500
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
Foxg1 Syndrome	Bruxism, Infantile spasms, Myoclonus, Reduced social reciprocity, Stereotypical hand wringing, Pa...	ORPHA:561854
Developmental Delay With Or Without Epilepsy	Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the ...	OMIM:620540
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ...	OMIM:271980
Episodic Ataxia, Type 9	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus	OMIM:618924
Glycine Encephalopathy 1	Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil...	ORPHA:139426
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Motor stereotypy, Dysphagia, Bilateral tonic-clonic seizure	OMIM:617862
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Delayed early-childhood social milestone development, Bilate...	OMIM:619302
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Unilateral Focal Polymicrogyria	Mental deterioration, Memory impairment, Focal impaired awareness seizure, Seizure, Aggressive be...	ORPHA:268947
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
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
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
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
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ...	OMIM:616139
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Stereotyp...	OMIM:618917
Benign Familial Neonatal-Infantile Seizures	Mental deterioration, Neonatal seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clon...	ORPHA:140927
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Epileptic spasm, Bruxism, Myoclonus, Stereotypical hand wringing, Ton...	OMIM:618497
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:611726
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613608
Developmental And Epileptic Encephalopathy 34	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s...	OMIM:616645
Hyperprolinemia, Type I	Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus	OMIM:239500
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
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
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Epilepsy, Nocturnal Frontal Lobe, 5	Status epilepticus, Aggressive behavior, Focal-onset seizure, Depression	OMIM:615005
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte...	OMIM:620292
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:619317
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Pitt-Hopkins-Like Syndrome 1	Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r...	OMIM:610042
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Dementia, Generalized myoclonic seizure	OMIM:301020
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Irritability	OMIM:609056
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei...	ORPHA:101071
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hereditary Geniospasm	Chin myoclonus, Abnormal social behavior	ORPHA:53372
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ...	ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,...	OMIM:618587
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Seizure, Simplified gyral pattern	OMIM:613402
Systemic Primary Carnitine Deficiency	Confusion, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Depression, Seizure, Generalized non-motor (absence) seizure, Infantile ...	ORPHA:485350
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila...	OMIM:605021
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Focal hemiclonic seizure, C...	ORPHA:293181
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Dementia, Focal-onset seizure	OMIM:226750
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus...	ORPHA:2590
Congenital Disorder Of Glycosylation, Type Iaa	Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:617082
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,...	OMIM:617350
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
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Dementia, Psychomotor deterioration	OMIM:204200
Intellectual Developmental Disorder, X-Linked 30	Seizure, Generalized non-motor (absence) seizure, Short attention span, Aggressive behavior, Hype...	OMIM:300558
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a...	ORPHA:1929
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:300454
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Reduced social reciprocity, Seizure, Stereotypical hand wringing	ORPHA:397933
Childhood Disintegrative Disorder	Mental deterioration, Seizure, Reduced social reciprocity, Social and occupational deterioration,...	ORPHA:168782
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Peho-Like Syndrome	Polymicrogyria, Myoclonus, Bilateral tonic-clonic seizure, Pachygyria, Status epilepticus, Lissen...	OMIM:617507
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure, Pachygyria	ORPHA:329329
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Hyperactivity, Seizure	OMIM:609924
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Convulsive status epilepticus, Focal-onset seizure, Stereotypical hand w...	OMIM:618760
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Irritability, Tonic seizure, Bilateral tonic-clonic seizure, Clonic...	OMIM:617290
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
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic ...	OMIM:615538
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi...	OMIM:617711
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure...	OMIM:617976
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:301107
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Brain Small Vessel Disease 2	Subcortical heterotopia, Focal-onset seizure, Bilateral tonic-clonic seizure, Polymicrogyria	OMIM:614483
Cerebral Creatine Deficiency Syndrome 2	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Aggressive beh...	OMIM:612736
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
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure	OMIM:612621
Yoon-Bellen Neurodevelopmental Syndrome	Infantile spasms, Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic-atoni...	OMIM:619701
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Recurrent hand flapping, A...	OMIM:617600
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Hyper...	OMIM:619913
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
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, Stereo...	ORPHA:289266
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl...	OMIM:619854
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Seizure	OMIM:300928
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t...	OMIM:617106
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure, Myoclo...	ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Aggressive behavior, Reduced social reciprocity, Bilateral tonic-clonic seizure	OMIM:616083
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress...	OMIM:618010
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Bilateral tonic-clonic seizure, Irritability	OMIM:618237
Developmental And Epileptic Encephalopathy 66	Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,...	OMIM:618067
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hyperactivity, Seizure	OMIM:248510
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Seizure	ORPHA:85288
Severe Canavan Disease	Bilateral tonic-clonic seizure, Irritability, Seizure, Oral-pharyngeal dysphagia	ORPHA:314911
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 67	Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors	OMIM:619927
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Myoclonus, Hyperactivity, Seizure	OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila...	OMIM:615637
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal...	OMIM:615859
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	ORPHA:79137
Spinocerebellar Ataxia 48	Depression, Dysphagia, Bilateral tonic-clonic seizure, Irritability	OMIM:618093
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Dystonia 22, Juvenile-Onset	Mental deterioration, Bilateral tonic-clonic seizure	OMIM:620453
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Seizure	OMIM:620317
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:608049
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Polymicrogyria	ORPHA:250972
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Motor stereotypy, Hyperactivity, Seizure	OMIM:619470
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Intellectual Developmental Disorder, Autosomal Dominant 74	Diminished ability to concentrate, Motor tics, Typical absence seizure, Bilateral tonic-clonic se...	OMIM:620688
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Seizure, Irritability, Aggressive behavior, Hyperactivity, Anorex...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ...	OMIM:615516
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure	OMIM:616981
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Abnorm...	ORPHA:2470
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Epileptic spasm, Irritability, Status epilepticus without prominent motor symp...	OMIM:617105
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Focal impai...	OMIM:617493
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:618856
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Nocturnal seizures, Cogniti...	ORPHA:98784
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Seizure, Polymicrogyria	ORPHA:209370
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Motor stereotypy, Anophthalmia	ORPHA:411986
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Bruxism, Hyperactivity, Seizure	OMIM:300434
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure	OMIM:618425
Phenylketonuria	Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera...	OMIM:261600
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Spastic Ataxia 5, Autosomal Recessive	Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure, Dysphagia, Generalized myoclonic...	OMIM:614487
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizures, Bilateral to...	OMIM:619725
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Anophthalmia, Microphthalmia	OMIM:613885
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Short attention span, Recur...	OMIM:619580
Developmental And Epileptic Encephalopathy 47	Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Agitation	OMIM:617166
Sarcosinemia	Emotional lability, Bilateral tonic-clonic seizure	ORPHA:3129
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity, Seizure	OMIM:617182
Intellectual Developmental Disorder, X-Linked 104	Aggressive behavior, Hyperactivity, Seizure	OMIM:300983
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Motor stereotypy, Cognitive impairment, Myoclonic spasms, Motor deterioration, Dementia,...	ORPHA:79264
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of ...	OMIM:618718
Cntnap2-Related Developmental And Epileptic Encephalopathy	Mental deterioration, Abnormal temper tantrums, Seizure, Focal-onset seizure, Self-mutilation, St...	ORPHA:163681
Spinocerebellar Ataxia, Autosomal Recessive 12	Bilateral tonic-clonic seizure	OMIM:614322
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Mental deterioration, Pseudobulbar paralysis, Aggressive behavior, Cognitive impairment, Bilatera...	ORPHA:199354
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm...	OMIM:618012
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Dementia, Semantic dementia, Abn...	ORPHA:1020
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Seizure, Periventricular nodular heterotopia, Focal-onset seizure, Bilateral toni...	ORPHA:352582
Xq25 Microduplication Syndrome	Hyperactivity, Seizure	ORPHA:521258
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:620028
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity, Seizure	OMIM:617169
Epilepsy, Familial Adult Myoclonic, 2	Dementia, Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure	OMIM:607876
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni...	OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Bilateral tonic-clonic seizure	OMIM:619065
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Motor stereotypy, Simplified ...	OMIM:619877
Coffin-Siris Syndrome 8	Self-injurious behavior, Aggressive behavior, Hyperactivity, Seizure	OMIM:618362
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni...	OMIM:619428
Usmani-Riazuddin Syndrome, Autosomal Dominant	Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha...	OMIM:619467
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure	OMIM:613970
Houge-Janssens Syndrome 3	Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ...	OMIM:618354
Developmental And Epileptic Encephalopathy 28	Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali...	OMIM:616211
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Seizure, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity	ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 13	Focal motor seizure, Bilateral tonic-clonic seizure, Irritability	OMIM:618235
Myoclonic-Astatic Epilepsy	Atonic seizure, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, R...	ORPHA:1942
Trisomy 13	Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasia of the iris, Displacement of the uret...	ORPHA:3378
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Bruxism, Myoclonic seizure, Seizure	OMIM:615716
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Focal sensory seizure with visual features, Generalized non-motor ...	OMIM:254780
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, Infantile ...	OMIM:300912
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s...	ORPHA:363558
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Frontal polymicrogyria, Focal impaired awareness seizure, Bilateral tonic-clonic s...	OMIM:300607
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Lissencephaly 9 With Complex Brainstem Malformation	Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Pachygyria, Dysphag...	OMIM:618325
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure	OMIM:620655
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Seizure, Self-mutilation, Bilateral tonic-clonic seizure, Motor stereotypy	ORPHA:457240
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Irritability	ORPHA:457205
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Autosomal Dominant Spastic Paraplegia Type 6	Bilateral tonic-clonic seizure	ORPHA:100988
Lafora Disease	Mental deterioration, Generalized myoclonic seizure, Focal impaired awareness seizure, Focal sens...	ORPHA:501
Alpers-Huttenlocher Syndrome	Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:726
Juvenile Huntington Disease	Depression, Seizure, Myoclonus, Irritability, Hyperactivity	ORPHA:248111
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Dementia, Bilateral tonic-clonic seizure	OMIM:540000
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, Seizure	ORPHA:488635
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile...	OMIM:610539
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Tongue thrusting, Bilateral tonic...	ORPHA:98795
Developmental And Epileptic Encephalopathy 90	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:301058
Lissencephaly Due To Tuba1A Mutation	Polymicrogyria, Infantile spasms, Bilateral tonic-clonic seizure, Pachygyria, Agyria, Focal-onset...	ORPHA:171680
Bilateral Polymicrogyria	Mental deterioration, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasm...	ORPHA:268940
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ...	ORPHA:449291
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614559
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Chromosome Xq25 Duplication Syndrome	Hyperactivity, Seizure	OMIM:300979
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Seizure	OMIM:300423
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Seizure	OMIM:301013
Developmental And Epileptic Encephalopathy 61	Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Seizure, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity	OMIM:620445
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dysphagia, Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:313772
Sulfite Oxidase Deficiency, Isolated	Agitation, Bilateral tonic-clonic seizure	OMIM:272300
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Seizure	ORPHA:309246
Developmental And Epileptic Encephalopathy 4	Generalized myoclonic seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic...	OMIM:612164
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Hyperlysinemia, Type I	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Hyp...	OMIM:238700
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure	OMIM:615031
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Difficulty walking, Confu...	ORPHA:100924
Microphthalmia, Syndromic 9	Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia...	OMIM:601186
Cockayne Syndrome Type 2	Difficulty walking, Anophthalmia, Gait disturbance, Ataxia, Hepatomegaly	ORPHA:90322
Anencephaly 2	Anophthalmia	OMIM:619452
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus	OMIM:618314
Intellectual Developmental Disorder, Autosomal Recessive 13	Bruxism, Recurrent hand flapping, Hyperactivity, Seizure	OMIM:613192
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Infantile spasms, Irritability, Bilateral tonic-clonic seizure, Restlessness	ORPHA:544503
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure	ORPHA:464282
Intellectual Developmental Disorder, X-Linked 21	Impulsivity, Hyperactivity, Seizure	OMIM:300143
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:600721
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei...	OMIM:618170
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth	OMIM:617468
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Tonic seizure, Infantile spasms, Hyperactivity, Seizure	OMIM:619239
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Seizure, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity	ORPHA:500180
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Intellectual Developmental Disorder, Autosomal Dominant 7	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S...	OMIM:614104
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Aggressive behavior, Hyperactivity, Seizure	ORPHA:457260
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Seizure, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Motor...	ORPHA:228402
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Head-banging, Bilateral tonic-clonic seizure	OMIM:619356
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Seizure, Hyperactivity, Motor stereotypy, Abnormal social behavior	ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 42	Phonic tics, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)...	OMIM:616973
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure	OMIM:616351
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Myoclonus, Bilateral tonic-clonic seizure with focal onset	ORPHA:254881
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Status epilepticus, Seizure	ORPHA:529665
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Fragile X Syndrome	Seizure, Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting	OMIM:300624
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity...	OMIM:620242
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bilateral tonic-clonic seizure, Focal motor seizure, Seizure	OMIM:619911
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia	ORPHA:77298
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Anophthalmia	ORPHA:261344
Joubert Syndrome 21	Splenomegaly, Anophthalmia, Renal cyst, Ataxia, Dysphagia	OMIM:615636
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Myoclonus, Self-mutilation, Aggressive behavior, Bilateral tonic-clonic seizure, Status ...	ORPHA:364028
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness of neck muscles, Fatigable weakness, Bilateral tonic-clonic seizure, Febrile s...	ORPHA:42
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure	ORPHA:369840
D-Glyceric Aciduria	Seizure, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral tonic-clonic seizure, Statu...	OMIM:220120
Cockayne Syndrome Type 1	Difficulty walking, Renal insufficiency, Anophthalmia, Proteinuria, Anemia, Gait disturbance, Ata...	ORPHA:90321
Migraine, Familial Hemiplegic, 2	Confusion, Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:602481
Combined Oxidative Phosphorylation Deficiency 27	Mental deterioration, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:616672
Developmental And Epileptic Encephalopathy 49	Myoclonic seizure, Myoclonus, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Cloni...	OMIM:617281
Ritscher-Schinzel Syndrome 4	Motor stereotypy, Aggressive behavior, Bilateral tonic-clonic seizure, Dysphagia, Focal-onset sei...	OMIM:619435
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Polymicrogyria	ORPHA:79243
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Polymicrogyria	ORPHA:488613
Congenital Insensitivity To Pain With Severe Intellectual Disability	Self-mutilation, Bilateral tonic-clonic seizure	ORPHA:453510
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bilateral tonic-clonic ...	OMIM:615802
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Microphthalmia, Syndromic 5	Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal impaired awar...	ORPHA:369929
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure	ORPHA:309155
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure	OMIM:618120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Focal myoclonic seizure, Seizure, Irritability, Aggressive behavior, Bilateral tonic-clonic seizure	ORPHA:481152
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Polymicrogyria, Infantile spasms, Bilateral tonic-clonic seizure, ...	OMIM:620504
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Polymic...	OMIM:615501
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Hyperactivity, Bilateral tonic-cl...	ORPHA:447997
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Anophthalmia, Congenital hepati...	ORPHA:564
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:619983
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
X-Linked Intellectual Disability, Hedera Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:93952
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni...	ORPHA:435638
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral to...	ORPHA:480864
Fatty Acid Hydroxylase-Associated Neurodegeneration	Mental deterioration, Dysphagia, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Microphthalmia	ORPHA:899
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bila...	ORPHA:457351
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Mental deterioration, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Cogn...	ORPHA:395
Hyperekplexia 3	Myoclonus, Bilateral tonic-clonic seizure	OMIM:614618
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Seizure, Inappropriate laughter, Abnormal eating behavior, Myoclonus, Short attention span, Recur...	ORPHA:98794
Mucopolysaccharidosis, Type Iiib	Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Seizure	OMIM:252920
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:1934
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequent temper tantrums,...	OMIM:612313
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the spleen, Crossed fused renal ec...	ORPHA:2538
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure	OMIM:271900
Adenylosuccinase Deficiency	Seizure, Inappropriate laughter, Myoclonus, Self-mutilation, Aggressive behavior, Hyperactivity	OMIM:103050
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Irritability, Bilateral tonic-clonic se...	ORPHA:79351
47,Xyy Syndrome	Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Imp...	ORPHA:8
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Irritability	ORPHA:99742
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Angelman Syndrome	Self-injurious behavior, Seizure, Inappropriate laughter, Infantile spasms, Myoclonus, Recurrent ...	ORPHA:72
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure	OMIM:169400
Developmental And Epileptic Encephalopathy 95	Seizure, Inappropriate laughter, Focal-onset seizure, Bilateral tonic-clonic seizure, Multifocal ...	OMIM:618143
Alternating Hemiplegia Of Childhood	Seizure, Oral-pharyngeal dysphagia, Aggressive behavior, Bilateral tonic-clonic seizure, Anorexia...	ORPHA:2131
Holoprosencephaly	Abnormality of the spleen, Anophthalmia, Proteinuria, Cognitive impairment, Microphthalmia, Hypop...	ORPHA:2162
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Stormorken Syndrome	Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Seizure, Emotional lability, Reduced social reciprocity, Low frustration tolerance, Aggressive be...	OMIM:309520
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:620070
Sandhoff Disease	Myoclonic seizure, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration	OMIM:268800
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Diminishment of social interactions, Myoclonic seizure, Head-banging, Generalized non-motor (abse...	OMIM:620455
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
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
Fibular Hemimelia	Difficulty walking, Anophthalmia, Thrombocytopenia	ORPHA:93323
Warburg Micro Syndrome 3	Myoclonic seizure, Bilateral tonic-clonic seizure, Polymicrogyria	OMIM:614222
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Irritability, Bilateral tonic-clonic seizure, Myoclonic spasms	OMIM:252160
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Seizure, Neonatal death	OMIM:620300
Intellectual Developmental Disorder, Autosomal Dominant 54	Seizure, Bruxism, Irritability, Aggressive behavior, Bilateral tonic-clonic seizure, Atonic seizu...	OMIM:617799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:615398
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microphthalmia, Micropenis, Hypospadias, Optic nerve hypoplasia	OMIM:206900
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Irritability, Generalized non-motor (absence) seizure, Febrile se...	OMIM:617798
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:466943
Japanese Encephalitis	Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure, Anorexia, Paucity of anterior ho...	ORPHA:79139
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dysphag...	ORPHA:496641
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Irritability, Impulsivity, Hyperactivity...	OMIM:620423
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact...	ORPHA:466950
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure wit...	OMIM:620024
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Choreoacanthocytosis	Self-injurious behavior, Mental deterioration, Phonic tics, Head-banging, Seizure, Bruxism, Short...	ORPHA:2388
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Bilateral tonic-clonic seizure, Epileptic spasm, Generalized tonic seizure, Seizure	OMIM:617193
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Renal hypoplasia, Anophthalmia	ORPHA:264200
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Microphthalmia	ORPHA:2250
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t...	OMIM:614231
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Mirage Syndrome	Microphallus, Lymphopenia, Leukopenia, Hypoplastic spleen, Thrombocytopenia, Anemia, Hypospadias	OMIM:617053
Lujo Hemorrhagic Fever	Mental deterioration, Seizure, Confusion, Bilateral tonic-clonic seizure, Dysphagia	ORPHA:319213
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Periventricular heterotopia, Bilateral tonic-clonic seizure	OMIM:618733
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hepatomegaly, Dysphagia, Hypoplastic spleen...	ORPHA:699
Charge Syndrome	Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Attention deficit hyperact...	ORPHA:138
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Seizure, Short attention span, Hyperactivity, Dysphagia, Impulsivity	OMIM:610217
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit...	OMIM:619512
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Biotinidase Deficiency	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized myocl...	ORPHA:79241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Seizure	OMIM:620047
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
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
Melas	Memory impairment, Seizure, Myoclonus, Short attention span, Bilateral tonic-clonic seizure, Deme...	ORPHA:550
Fraser Syndrome 1	Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Abnormal thymus morphology, Micropenis,...	OMIM:219000
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Hyperphosphatasia-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Seizure	ORPHA:247262
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure	ORPHA:423479
Cocaine Intoxication	Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Delirium, Atypical absence status e...	ORPHA:90068
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Kinsship Syndrome	Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto...	OMIM:619297
Argininemia	Irritability, Hyperactivity, Seizure, Anorexia	OMIM:207800
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 14	Focal autonomic seizure, Focal motor seizure, Generalized tonic seizure, Status epilepticus	OMIM:614959
Hermansky-Pudlak Syndrome 10	Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:615474
Weaver Syndrome	Bilateral tonic-clonic seizure, Polyphagia, Seizure, Generalized non-motor (absence) seizure	OMIM:277590
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Myoclonus, Bilateral tonic-clonic seizure	OMIM:620451
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Cognitive impairment, Seizure	OMIM:610505
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Anophthalmia, Microphthalmia	ORPHA:2526
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Myoclonic seizure, Fixated interests, Generalized non-motor (absence) se...	OMIM:620330
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Charge Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the thymus, Horseshoe kidney, Lymphopenia, Unilateral mic...	OMIM:214800
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Microphthalmia, Hypospadias, Epispadias	ORPHA:2556
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Motor stereotypy, Seizure	OMIM:301040
Tuberous Sclerosis Complex	Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Focal-onset seiz...	ORPHA:805
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Micropht...	ORPHA:141099
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Mitochondrial Dna-Associated Leigh Syndrome	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Generalized myoclonic seizure	ORPHA:255210
De Sanctis-Cacchione Syndrome	Mental deterioration, Bilateral tonic-clonic seizure	OMIM:278800
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis	OMIM:219090
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Combined Oxidative Phosphorylation Deficiency 15	Progressive neurologic deterioration, Bilateral tonic-clonic seizure with focal onset, Cognitive ...	OMIM:614947
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure	OMIM:257300
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:513456
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Aniridia, Anophthalmia, Hydronephrosis, Microphthalmia, Ureteral ...	OMIM:305600
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Seizure, Polymicrogyria	OMIM:261515
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Hallermann-Streiff Syndrome	Hyperactivity, Bilateral tonic-clonic seizure	OMIM:234100
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Bilateral ...	OMIM:614756
Holoprosencephaly 9	Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General...	ORPHA:369837
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Aggressive behavior, Depression, Hyperactivity, Seizure	OMIM:612716
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
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:620066
Microphthalmia, Syndromic 2	Hypospadias, Anophthalmia, Microphthalmia	OMIM:300166
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Motor stereotypy,...	OMIM:301044
Microphthalmia With Limb Anomalies	Horseshoe kidney, True anophthalmia, Microphthalmia	ORPHA:1106
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Polymicrogyria	OMIM:620371
Fraser Syndrome	Anophthalmia, Urethral atresia, Microphthalmia, Hypoplasia of penis, Hypospadias	ORPHA:2052
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Violent behavior, Myoclonic seizure, Seizure	OMIM:280000
Branchiooculofacial Syndrome	Ectopic thymus tissue, Anophthalmia, Renal cyst, Microphthalmia, Hypospadias	OMIM:113620
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Myoclonus, Seizure	OMIM:618426
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia, Bilateral tonic-clonic seizure	OMIM:619895
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353281
Microphthalmia, Syndromic 6	Renal hypoplasia, Anophthalmia, Microphthalmia	OMIM:607932
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Reduced social reciprocity, Bilateral tonic-clonic seizure	ORPHA:457359
Ogden Syndrome	Generalized-onset seizure, Irritability, Dysphagia, Bilateral tonic-clonic seizure, Motor stereotypy	OMIM:300855
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:99885
Microphthalmia, Syndromic 1	Renal hypoplasia, Hydroureter, Anophthalmia, Self-mutilation, Aggressive behavior, Microphthalmia...	OMIM:309800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
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
Histidinemia	Hyperactivity	ORPHA:2157
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure	OMIM:252010
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic...	OMIM:612474
Gaucher Disease	Depression, Dysphagia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:355
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353277
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Vesicoureteral reflux, Anophthalmia, Ureteropelvic junction obstruc...	OMIM:164210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myoclonus, Stereotypical h...	ORPHA:438213
Doors Syndrome	Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Polymicrogyria	ORPHA:79500
Hartsfield Syndrome	Bilateral tonic-clonic seizure	OMIM:615465
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behav...	ORPHA:821
Kabuki Syndrome 1	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:147920

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 Kcnt1

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 Kcnt1.

No publications found that use IMPC mice or data for Kcnt1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kcnt1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Kcnt1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Kcnt1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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: Kcnt1 MGI:1924627

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Kcnt1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data