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Gene: Kcnt1 MGI:1924627

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Gene Summary

Name:
potassium channel, subfamily T, member 1
Synonyms:
Slack,  C030030G16Rik,  slo2

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 System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Kcnt1em1(IMPC)Mbp HOM Early adult 1.42×10-10
decreased locomotor activity Kcnt1em1(IMPC)Mbp HOM Early adult 1.97×10-10
abnormal kidney morphology Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Kcnt1em1(IMPC)Mbp HOM Early adult 6.39×10-07
small spleen Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Kcnt1em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Kcnt1em1(IMPC)Mbp HOM Early adult 6.81×10-07
decreased anxiety-related response Kcnt1em1(IMPC)Mbp HOM Early adult 2.89×10-05

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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.

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

Disease Similarity of
phenotypes		 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 Similarity of
phenotypes		 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