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Gene: Lgi1 MGI:1861691

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

leucine-rich repeat LGI family, member 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Lgi1 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 Lgi1 (2 diseases)
Human diseases predicted to be associated with Lgi1 (638 diseases)

The table below shows human diseases associated to Lgi1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Epilepsy, Familial Temporal Lobe, 1		Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Autosomal Dominant Epilepsy With Auditory Features		Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046

The table below shows human diseases predicted to be associated to Lgi1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc...	OMIM:610003
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili...	OMIM:616346
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-...	ORPHA:725
Landau-Kleffner Syndrome	Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi...	ORPHA:98818
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy...	OMIM:619970
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S...	OMIM:245570
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno...	ORPHA:2382
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s...	OMIM:617113
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv...	ORPHA:101039
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w...	ORPHA:139431
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform dis...	OMIM:616187
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un...	OMIM:616409
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,...	OMIM:607682
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Atrophy/Dege...	OMIM:617862
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,...	OMIM:616230
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ...	OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Broad-based gait, Ataxia, Focal motor seizure, Generalized non...	OMIM:617665
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons...	OMIM:619605
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic s...	OMIM:617643
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s...	OMIM:601068
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G...	OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Abnormal ...	OMIM:162350
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, Tr...	OMIM:608636
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Seizure	OMIM:614023
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Multi...	OMIM:617904
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features...	OMIM:615400
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generaliz...	ORPHA:36387
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (abs...	OMIM:617810
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ...	OMIM:254800
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Attention ...	OMIM:619639
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic status...	OMIM:614018
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ...	OMIM:618587
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic...	OMIM:617171
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure...	ORPHA:307
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Congenital cont...	OMIM:225753
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Slender build, Ataxia, Aggressive behavior, Bilateral tonic-clonic seizure	OMIM:617709
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph...	OMIM:613608
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Aggressive behavior, Cerebral atrophy, Seizure, Neurodegeneration	OMIM:300894
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Hydrocephalus, Status...	OMIM:266100
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc...	OMIM:617711
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Short stature, Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, M...	OMIM:618596
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Hemimegalencephaly	EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su...	ORPHA:99802
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Seizure, Gliosis, Global brain atrophy	OMIM:236792
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset...	OMIM:615362
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ...	OMIM:618090
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia, Growth delay	OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, EEG abnormality, Neurodegeneration, Generalized myo...	OMIM:610951
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse...	OMIM:617391
Huntington Disease	Cerebellar atrophy, Gait ataxia, Seizure, Gliosis, Neuronal loss in central nervous system	OMIM:143100
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Developmental And Epileptic Encephalopathy 14	Focal autonomic seizure, Focal motor seizure, Status epilepticus, Gliosis, Neuronal loss in centr...	OMIM:614959
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike...	OMIM:615127
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, EEG with generalized spikes, Myo...	OMIM:613855
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, EEG wit...	ORPHA:86909
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Inability to walk, ...	ORPHA:330050
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Bilateral tonic-clonic seizure, Chiari type I malformation, EEG abnormalit...	OMIM:617836
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo...	OMIM:615744
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Inability to...	ORPHA:79243
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Brain atrophy, Myoclonic absence seizure	OMIM:612621
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S...	ORPHA:33069
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, EEG with burst ...	ORPHA:3006
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my...	OMIM:617771
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal EEG dischar...	ORPHA:263516
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Aggressive behavior, Limb...	OMIM:607136
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Episodic Ataxia, Type 9	Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ...	OMIM:618924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy...	ORPHA:168491
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Myoclonic-Atonic Epilepsy	Ataxia, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ...	OMIM:616421
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a...	ORPHA:488635
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti...	OMIM:619000
Clcn4-Related X-Linked Intellectual Disability Syndrome	Inguinal hernia, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive beha...	ORPHA:485350
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons...	OMIM:204300
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Seizure, Shuffling gait, Myoclonus, Brain atrophy, Shor...	ORPHA:391411
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Foc...	OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,...	OMIM:226750
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Seizure, Neurodegeneration	OMIM:613068
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Generalized non-motor (absence) seizure, Obesity, Cerebral at...	OMIM:616521
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydrocephalus, Seizure, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth ret...	OMIM:225790
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz...	ORPHA:98820
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, Seizure, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Neuronal ...	OMIM:221820
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Hypoplasia of the pons, Inability to walk, Abnormal repetitive mannerisms, Gene...	ORPHA:411986
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seiz...	OMIM:618917
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ...	OMIM:616341
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oral-...	ORPHA:208447
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Intrauterine growth r...	OMIM:617082
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile...	OMIM:609056
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic...	OMIM:619913
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Cerebral atrophy, Seizure, Lateral ventricle dilatation, EE...	OMIM:221770
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Atrophy/Degeneration affect...	OMIM:617493
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ...	ORPHA:101071
Unilateral Focal Polymicrogyria	EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit...	ORPHA:268947
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Seizure, Freezing of gait	OMIM:619911
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Agenesis of corpus...	OMIM:611603
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, Growth delay, Di...	OMIM:618242
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Myoclonic seizure,...	ORPHA:168486
Rasmussen Subacute Encephalitis	Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Hyperactiv...	ORPHA:1929
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE...	OMIM:617976
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increased extrane...	OMIM:204200
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Generalized-onset seizure, Akinesia, Choreoathetosis, Truncal ataxia, Failure...	OMIM:618249
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Dysmetria, Gait ataxia, Weight loss, Seizure, EEG abnormality, ...	ORPHA:157941
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc...	OMIM:616645
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner...	OMIM:613886
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, ...	OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Ataxia, Short stature, Unsteady gait, Dysmetria, Gait ataxia, Limb atax...	OMIM:213200
Developmental And Epileptic Encephalopathy 71	Seizure, EEG with burst suppression, Gliosis	OMIM:618328
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Cerebral atrophy,...	OMIM:256600
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, My...	OMIM:619301
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:79137
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decre...	OMIM:614559
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Diffuse cerebral atrophy, Short stature, Bilateral tonic-clonic seizure, Small f...	ORPHA:289266
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co...	OMIM:619302
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Seizure, S...	ORPHA:382
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My...	OMIM:616139
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Flexion contracture, Neonatal death, Intraute...	OMIM:618237
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to...	OMIM:618012
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Foxg1 Syndrome	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset s...	ORPHA:561854
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Bilateral tonic-clonic seizure, Overweight, Seizure, Gait disturbance, Gliosis, Ab...	ORPHA:457240
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop...	OMIM:618497
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas...	OMIM:619428
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Aggressive behavior, Gait ataxia, Gait disturbance, Gait imba...	OMIM:618369
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g...	OMIM:620317
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,...	ORPHA:163721
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-...	OMIM:618170
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c...	ORPHA:1942
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Paroxysmal Exertion-Induced Dyskinesia	Ataxia, Aggressive behavior, Generalized non-motor (absence) seizure, Choreoathetosis, Seizure	ORPHA:98811
Immunodeficiency 83, Susceptibility To Viral Infections	Seizure, Gliosis, EEG abnormality	OMIM:613002
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Seizure, Gait disturbance, Myoclonus, Dysphagia, Hypokinesia	OMIM:606693
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Dysmetria, Gait ataxia, Dys...	OMIM:618093
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Agenesis of corpus callosum, Cer...	OMIM:615095
Huntington Disease	Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, C...	ORPHA:399
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ...	OMIM:300558
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Seizure, Gliosis, Myoclonus, Neuronal loss in central nervous system	OMIM:604218
Diaminopentanuria	Neurodegeneration, Seizure, Ataxia	OMIM:222350
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic...	OMIM:619191
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia,...	OMIM:607454
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Scarring, Generalized non-motor (absence) seizure, Aggressive behavior	OMIM:247100
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, Cerebellar atrophy, EEG with focal spike waves, Bilateral tonic-cloni...	ORPHA:352582
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature...	OMIM:300957
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer...	OMIM:609924
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus, Atrophy/Degeneration affecting the brainstem,...	OMIM:620200
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadoc...	ORPHA:313772
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Generalized-onset seizure, Generalized non-motor (absen...	ORPHA:35878
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Seizu...	OMIM:300423
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Short stature, Dorsocervical fat pad, Generalized non-motor (absence) seizure, Seizure, Delayed t...	OMIM:616033
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Flexi...	OMIM:214150
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Dysphagia, Cerebral atrophy, Seizure, Neurodegener...	OMIM:617672
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh...	OMIM:615859
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ...	OMIM:619854
Combined Oxidative Phosphorylation Deficiency 6	Seizure, Generalized-onset seizure, Hypokinesia	OMIM:300816
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Akinesia, Growth delay, Seizure, Failure to thrive, Generalized tonic ...	OMIM:619147
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus	OMIM:617507
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra...	OMIM:618470
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia	ORPHA:98773
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Growth delay, ...	OMIM:614946
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo...	ORPHA:140927
Dpagt1-Cdg	Epileptic spasm, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Inability to walk, Abnorma...	ORPHA:86309
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral atrophy, Growth dela...	ORPHA:209370
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei...	OMIM:616281
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera...	ORPHA:363558
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Seizure, Colpocepha...	OMIM:616034
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadoch...	OMIM:614487
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Flexion contracture, Focal to...	OMIM:617105
Cln5 Disease	Generalized-onset seizure, Dysmetria, EEG with focal spikes, Hyperactivity, Ataxia, Atrophy/Degen...	ORPHA:228360
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, EEG wi...	OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Short stature, Ataxia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:619065
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Corticobasal Syndrome	Limb myoclonus, Gait disturbance, Myoclonus, Akinesia	ORPHA:454887
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in cent...	ORPHA:204
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Neuronal loss in central nervous syst...	OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Generalized non-motor (absence) sei...	OMIM:617600
Arthrogryposis, Impaired Intellectual Development, And Seizures	Camptodactyly of finger, Arthrogryposis multiplex congenita, Generalized non-motor (absence) seiz...	OMIM:615553
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Inability to walk, EEG abnormality, Self-injurious behavior, Convulsive stat...	OMIM:618760
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o...	ORPHA:240094
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Over...	OMIM:619229
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c...	OMIM:618067
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, EEG abnormal...	ORPHA:529665
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Hypoplasia of the pons, Seizure, Congenital contracture, Gliosis, Cerebellar hypopl...	OMIM:277470
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhyth...	ORPHA:1934
Gaucher Disease, Perinatal Lethal	Akinesia, Seizure, Dysphagia, Neonatal death, Intrauterine growth retardation, Decreased body wei...	OMIM:608013
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi...	OMIM:618729
Postencephalitic Parkinsonism	Diminished movement, Seizure, Akinesia, Dysphagia	ORPHA:97349
Segawa Syndrome, Autosomal Recessive	Myoclonus, Hypokinesia, Gait ataxia	OMIM:605407
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Ataxia, Cerebellar vermis hypoplasia, Infantile spasms, Hypoplasia of th...	ORPHA:467166
Lafora Disease	Giant somatosensory evoked potentials, Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-cl...	ORPHA:501
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo...	OMIM:617290
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Ataxia, Attention deficit hyperactivity disorder, Failure to thrive, Hypokinesia	OMIM:620007
Congenital Myopathy 9A	Short stature, Obesity, Akinesia	OMIM:618822
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Akinesia, Intrauterine growth retardation, ...	ORPHA:994
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Foot joint contracture, Decreased nerve conduction velocity, Inab...	ORPHA:457205
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Abnormal eating behavior, Obsessive-compulsive trait, Gait dis...	ORPHA:544254
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy...	OMIM:616973
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Short stature, Absent pubertal growth spurt, Ataxia, Bilateral tonic-clonic seizur...	ORPHA:464282
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy...	ORPHA:93952
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Short stature, Dysmetria, Gait ataxia, Cerebral atrophy, Spastic ...	OMIM:615031
Hereditary Late-Onset Parkinson Disease	Impulsivity, Akinesia, Weight loss, Agitation, Shuffling gait, Gliosis, Dysphagia, Cerebral corti...	ORPHA:411602
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Flexion contract...	OMIM:618856
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ...	OMIM:620166
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic...	OMIM:300912
Satb2-Associated Syndrome Due To A Pathogenic Variant	Postnatal growth retardation, Typical absence seizure, Growth delay, Seizure, Attention deficit h...	ORPHA:576283
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Small for gestational age, Cerebral atrophy, Seizure, Lateral ventricle dilatation...	OMIM:619847
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity, D...	OMIM:619028
Perry Syndrome	Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait	OMIM:168605
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Cerebral atrophy, Hy...	OMIM:612164
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Sulfite Oxidase Deficiency, Isolated	Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral atrophy, Cho...	OMIM:272300
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum, Hypokinesia	OMIM:300073
Brain Small Vessel Disease 2	Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure, Hypokinesia	OMIM:249650
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ...	OMIM:620292
Cln3 Disease	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz...	ORPHA:228346
Primary Non-Essential Cutis Verticis Gyrata	Keloids, Seizure, Gliosis	ORPHA:357225
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Seizure, Ataxia, Gliosis	OMIM:612936
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu...	ORPHA:77299
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Neuronal loss in cen...	OMIM:616239
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Cerebral atrophy...	OMIM:301058
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Unsteady gait, Cerebral atrophy, Gait...	ORPHA:98762
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Cerebellar cortical...	ORPHA:247234
Manganese Poisoning	Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi...	ORPHA:306682
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmetria, Seizure, Dysdiadochokinesis, Neurodegeneration, Difficulty...	OMIM:612319
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Inguinal hernia, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awarene...	OMIM:613970
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Combined Oxidative Phosphorylation Deficiency 1	Global brain atrophy, Intrauterine growth retardation, Seizure, Hypokinesia	OMIM:609060
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia	OMIM:300857
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, I...	OMIM:617201
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha...	ORPHA:250972
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic sei...	OMIM:617193
Arthrogryposis Multiplex Congenita 6	Neonatal death, Arthrogryposis multiplex congenita, Akinesia	OMIM:619334
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Leukoencephalopathy With Vanishing White Matter 1	Seizure, Unsteady gait, Gait disturbance, Gliosis	OMIM:603896
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Seizure, Lateral ventricle dilatation, ...	OMIM:617854
Harel-Yoon Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Generalized non-motor (absence) seizure	OMIM:617183
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Severe Canavan Disease	Inability to walk, Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia	ORPHA:314911
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ...	OMIM:612736
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ...	OMIM:613839
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,...	ORPHA:79264
Dk1-Cdg	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal ...	ORPHA:91131
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Bilateral tonic-clonic seizure	OMIM:618425
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Restlessness, Inguinal hernia, Cerebellar atrophy, Bilateral tonic-cl...	ORPHA:544503
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular gener...	OMIM:607876
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Abnormal repetitive ...	OMIM:615802
Angelman Syndrome	Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, EEG abnormality, Myoclonus, Atypical a...	ORPHA:72
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Hy...	OMIM:618325
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG with generalized poly...	ORPHA:163681
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Tonic s...	OMIM:619580
Houge-Janssens Syndrome 3	Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:618354
Hyperprolinemia Type 2	Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Seiz...	ORPHA:79101
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls	OMIM:203740
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure, Late...	OMIM:615716
Parkinson Disease 1, Autosomal Dominant	Gait disturbance, Shuffling gait, Myoclonus, Dysphagia, Loss of ambulation, Gliosis, Global brain...	OMIM:168601
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,...	ORPHA:438134
Supranuclear Palsy, Progressive, 1	Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Senile plaques, Falls, Ga...	OMIM:601104
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age	OMIM:240900
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g...	ORPHA:488613
Congenital Myopathy 12	Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand	OMIM:612540
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Bilateral tonic-clonic seizure, Ankle flexion contracture, Flexion contracture, ...	OMIM:617468
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral ...	OMIM:616672
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hydrocephalus, Seizure, EEG abnorm...	OMIM:245200
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal cord, Hydrocep...	ORPHA:395
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Growth delay, Seizure, Gliosis, Ce...	ORPHA:3240
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalize...	OMIM:615398
Lissencephaly Due To Lis1 Mutation	Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,...	ORPHA:95232
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,...	OMIM:619835
Nicolaides-Baraitser Syndrome	Epileptic spasm, Severe short stature, Generalized non-motor (absence) seizure, Seizure, Status e...	ORPHA:3051
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity...	ORPHA:64280
Congenital Disorder Of Glycosylation, Type Iu	Seizure, Congenital contracture, Cerebellar hypoplasia, Hypokinesia	OMIM:615042
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Short stature, Large for gestational age, Seizure, Self-injurious behavior, Glio...	ORPHA:261652
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Developmental And Epileptic Encephalopathy 110	Bruxism, Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, F...	OMIM:620149
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,...	OMIM:617933
Classic Progressive Supranuclear Palsy Syndrome	Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance	ORPHA:240071
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Dysdiadochokinesis, Gait disturbance, Hypokinesia	OMIM:609161
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Tonic seizure, Inability to walk, Repetitive compulsive behavior, Generalized non-motor (...	OMIM:300260
Leigh Syndrome	Seizure, Failure to thrive, Ataxia, Gliosis	OMIM:256000
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei...	OMIM:619877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)...	OMIM:614207
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Gait disturbance, Gliosis	OMIM:604484
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 22	Short stature, Proportionate short stature, Generalized non-motor (absence) seizure, Growth delay...	OMIM:612337
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Inability to walk, Hypokinesia	OMIM:618184
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Infantile spasms, Aggressive behavior, Cerebral atrophy, Gait ataxia, Hypsarrhythmia, Sei...	OMIM:618321
Dpm1-Cdg	Early onset absence seizures, Cerebellar atrophy, Abnormal dentate nucleus morphology, Ataxia, Ce...	ORPHA:79322
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Frontotemporal Dementia With Motor Neuron Disease	Degeneration of the lateral corticospinal tracts, Progressive cerebellar ataxia, Disinhibition, G...	ORPHA:275872
Supranuclear Palsy, Progressive, 2	Akinesia, Granulovacuolar degeneration, Falls, Gait imbalance, Gliosis, Dysphagia, Neuronal loss ...	OMIM:609454
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Flexion contracture, Akinesia	OMIM:253290
Autosomal Dominant Spastic Paraplegia Type 6	Gait disturbance, Bilateral tonic-clonic seizure	ORPHA:100988
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Inguinal hernia, Femoral hernia, Generalized non-motor (absence) seizure, Obesit...	ORPHA:96147
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus	ORPHA:726
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Parkinson Disease 17	Akinesia	OMIM:614203
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral atrophy	OMIM:618235
Progressive Supranuclear Palsy-Corticobasal Syndrome	Diminished movement, Limb myoclonus, Dysphagia	ORPHA:240103
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ...	OMIM:619983
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Focal motor se...	ORPHA:98761
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Ataxia, Inability to walk, Dystonic gait, Gliosis, Cerebellar hypoplasia, Difficul...	ORPHA:280210
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S...	OMIM:610539
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, Generalized non-...	ORPHA:79351
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Developmental And Epileptic Encephalopathy 28	Seizure, Status epilepticus, Hypokinesia, Cerebral atrophy	OMIM:616211
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal co...	ORPHA:329308
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Inguinal hernia, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure,...	OMIM:618143
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Increased connective tissue, Focal-onset seizure, Inability to walk, Flexion contracture, General...	ORPHA:258
Gm2 Gangliosidosis, Ab Variant	Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, Se...	ORPHA:309246
Lissencephaly, X-Linked, 2	Seizure, Agenesis of corpus callosum, Gliosis	OMIM:300215
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Tongue thrusting, Hypsarrhythmia, Growth delay, Seizure, Focal cl...	OMIM:220120
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib...	OMIM:607485
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Dysphagia	OMIM:201550
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure	ORPHA:53583
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Neurodegeneratio...	OMIM:234200
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi...	OMIM:600721
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Agenesis of corpus callosum, Neonatal death, Hypokinesia	OMIM:610498
Ritscher-Schinzel Syndrome 4	Short stature, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Impulsivity, Focal-on...	OMIM:619435
Aceruloplasminemia	Ataxia, Akinesia, Limb ataxia, Gait ataxia, Abnormal dentate nucleus morphology	ORPHA:48818
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile...	ORPHA:171680
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:105550
Severe X-Linked Mitochondrial Encephalomyopathy	Hypokinesia, Increased connective tissue	ORPHA:238329
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Lateral ventricle dilatation, Ataxia, Neurodegeneration	OMIM:615889
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in...	ORPHA:98784
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Tay-Sachs Disease	Cerebellar atrophy, Inability to walk, Typical absence seizure, Dysmetria, Seizure, Gait disturba...	ORPHA:845
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Limb joint contracture, Small for gestational age, Infantile spasms, Inabilit...	ORPHA:404454
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Pseudobulbar paralysis, Gliosis	OMIM:169500
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Alg11-Cdg	Ataxia, EEG with burst suppression, Cerebral atrophy, Seizure, Abnormal adipose tissue morphology...	ORPHA:280071
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Aggressive behavior, Ps...	ORPHA:199354
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Multiple joint contractures, Ataxia, Inf...	ORPHA:506
Muscular Hypertonia, Lethal	Umbilical hernia, Hypokinesia	OMIM:254120
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxi...	OMIM:615157
Chromosome Xp11.23-P11.22 Duplication Syndrome	EEG abnormality, Generalized non-motor (absence) seizure	OMIM:300801
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Truncal ataxia, Limb ataxia, Progressive ce...	OMIM:109150
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, Cloni...	OMIM:617281
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior,...	ORPHA:364028
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Intrauterin...	ORPHA:363686
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Flexion contractu...	ORPHA:481152
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Seizure, Gliosis	OMIM:608033
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los...	OMIM:604377
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Neonatal death...	OMIM:615501
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Short stature, Ataxia, Limb joint contracture, Flexion contracture, Seizure, ...	OMIM:301072
Bilateral Polymicrogyria	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ...	ORPHA:268940
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Gait imbalance, Ankle flexion contracture, Bilateral tonic-clonic seizure	OMIM:618120
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen...	OMIM:620224
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Akinesia, Flexion contracture, Elbow flexion contracture, Growth delay, Umbilica...	OMIM:618947
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythm...	OMIM:271900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Seizure, Short stature, Neurodegeneration	OMIM:620210
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity di...	OMIM:619725
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Falls, Gliosis, Dysphagia, Neuronal loss in central nervous system, C...	ORPHA:683
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal motor seizure, Dysmetria, Gait ataxia, ...	OMIM:602481
Neurodegeneration With Brain Iron Accumulation 6	Tip-toe gait, Gait disturbance, Neurodegeneration, Compulsive behaviors, Motor tics	OMIM:615643
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse...	ORPHA:478029
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Dysmetria, Gait ataxia, Progressive cerebellar a...	ORPHA:254881
3P25.3 Microdeletion Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Knee flexion con...	ORPHA:435638
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo...	OMIM:620024
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short stature, Pica, Generalized non-motor (absence) seizure, Seizure, Camptodactyly, Intrauterin...	OMIM:617360
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Akinesia	OMIM:616840
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Ataxia, Abnormal auditory evoked pot...	ORPHA:909
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Frontotempora...	ORPHA:391428
Hyperekplexia 1	Inguinal hernia, Hypokinesia, Seizure, Myoclonus, Umbilical hernia, Nocturnal seizures	OMIM:149400
Jaberi-Elahi Syndrome	Broad-based gait, Dandy-Walker malformation, Bilateral tonic-clonic seizure, Inability to walk, D...	OMIM:617988
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Myoclonus, Hypokinesia, Gait ataxia	ORPHA:101150
Intermediate Nemaline Myopathy	Flexion contracture, Difficulty walking, Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia	ORPHA:171433
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Growth delay, Seizure...	OMIM:252160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Focal-onset seizure, Hydrocephalus, Chiari type I malformation, Seizure, Neurodegeneratio...	OMIM:618476
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio...	ORPHA:488627
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Self-mutilation, Bilateral tonic-clonic seizure, Multifocal epileptifo...	ORPHA:453510
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Growth de...	OMIM:617798
Familial Acute Necrotizing Encephalopathy	Seizure, Gait disturbance, Gliosis	ORPHA:88619
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Cerebral atrophy, Seizure...	OMIM:610217
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizu...	ORPHA:480864
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Short stature, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, S...	OMIM:617799
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Dysphagia, Hypokinesia, Aggressive behavior	OMIM:614707
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ...	OMIM:615538
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure, Umbilical hernia, Mild short stature, Failure to thrive	OMIM:169400
Weaver Syndrome	Inguinal hernia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure...	OMIM:277590
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Corpus c...	OMIM:261515
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Dysphagia, Arthrogrypos...	ORPHA:496641
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure, B...	OMIM:620070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Bilateral tonic-clonic seizure	ORPHA:79350
Kinsship Syndrome	Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc...	OMIM:619297
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Mult...	ORPHA:369837
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,...	OMIM:615919
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni...	ORPHA:42
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Inguinal hernia, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Growth de...	OMIM:248500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Inguinal hernia, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggress...	ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism	OMIM:616351
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Limb joint contracture, Inability to walk, Achilles tendon contracture, Sciss...	OMIM:617013
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:616083
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to walk, Flexion contract...	OMIM:614222
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Seizure, Gliosis, Dysphagia	ORPHA:26791
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Postnatal growth retard...	OMIM:257300
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus, Cerebral cortical atrophy	ORPHA:309155
Congenital Disorder Of Deglycosylation 1	Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Myoclonic seizure, Athetosis, Seizure, Gliosi...	OMIM:615273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Large for gestational age, Flexion contracture, Elbow flexion contracture, Knee ...	OMIM:300868
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non...	ORPHA:513456
Glass Syndrome	Restlessness, Broad-based gait, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, H...	OMIM:612313
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Scissor gait, ...	OMIM:278800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure, Head-banging	OMIM:619356
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Bilateral tonic-clonic seizure, Athetosis, Seizure, Focal impaired awareness seizure, Polydipsia,...	ORPHA:369929
German Syndrome	Short stature, Camptodactyly of finger, Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia	ORPHA:2077
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Abnormal re...	OMIM:619512
African Trypanosomiasis	Akinesia, Aggressive behavior, Myelopathy, Weight loss, Choreoathetosis, Seizure, Gait disturbanc...	ORPHA:3385
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g...	OMIM:618733
Mitochondrial Complex I Deficiency, Nuclear Type 2	Seizure, Falls, Gliosis, Difficulty walking	OMIM:618222
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Myoclonus,...	OMIM:618426
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, EEG abnormality, Gliosis, Neonatal death, ...	OMIM:124000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Focal-onset seizure, Bilateral tonic-clonic seizure, Chiari type I malformation	OMIM:618316
1Q44 Microdeletion Syndrome	Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Growth delay, Agenesis of corpus ca...	ORPHA:238769
Holoprosencephaly 14	Cerebellar atrophy, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis...	OMIM:619895
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,...	ORPHA:2131
Adrenoleukodystrophy	Limb ataxia, Seizure, Neurodegeneration, Attention deficit hyperactivity disorder, Truncal ataxia	OMIM:300100
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Short stature, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seiz...	OMIM:615873
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Atypical scarring of skin, Seizure, Atrophic scars, Cerebellar hypoplasi...	OMIM:618343
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure, Infantile spasms, Hai...	ORPHA:447997
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe...	ORPHA:466943
Bone Marrow Failure Syndrome 5	Growth delay, Short stature, Bilateral tonic-clonic seizure	OMIM:618165
Amish Lethal Microcephaly	Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina ...	ORPHA:99742
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Cerebellar atrophy, Severe short stature, Ataxia, Cachexia, ...	ORPHA:191
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Ataxia, Flexion contracture, Dysmetria, Cerebral atrophy, Neurodegeneration, ...	OMIM:615491
Nivelon-Nivelon-Mabille Syndrome	Cerebellar vermis hypoplasia, Focal-onset seizure, Severe short stature, Bilateral tonic-clonic s...	OMIM:600092
Diets-Jongmans Syndrome	Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Seizure, Gl...	OMIM:618846
Papillorenal Syndrome	Chiari type I malformation, Seizure, Short stature, Gliosis	OMIM:120330
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hypokinesia	OMIM:619063
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Growth delay, Seizure, Gliosis, Myoclonic spasms	OMIM:252150
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Difficulty walking, Truncal ataxia	ORPHA:369840
Melas	Ataxia, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, EEG abnormal...	ORPHA:550
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short stature, Hypokinesia, Small for gestational age	OMIM:613320
Japanese Encephalitis	Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Anorexia, EEG with bur...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggr...	OMIM:620330
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Seizure,...	ORPHA:247262
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, Intrauterine growth retardation, Short stature, Bilateral tonic-clonic ...	ORPHA:423479
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Short stature, Bilateral tonic-clonic seizure, Hiatus he...	OMIM:614756
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz...	ORPHA:466950
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,...	OMIM:620066
Cerebral Visual Impairment	Hydrocephalus, Central nervous system degeneration, Seizure, Neurodegeneration, Attention deficit...	ORPHA:447788
Aromatic L-Amino Acid Decarboxylase Deficiency	Diminished movement, Tongue thrusting, Choreoathetosis, Athetosis, Myoclonus	OMIM:608643
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Generalized-onset seizure, Ataxia, Small for gestational age, Cerebellar vermis ...	OMIM:220111
Myopathy, Centronuclear, X-Linked	Dandy-Walker malformation, Flexion contracture, Hydrocephalus, Hypokinesia	OMIM:310400
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Severe short stature, Short stature, Hydrocephalus, Flexion contracture, Seizure...	OMIM:309900
Hermansky-Pudlak Syndrome 10	EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Cerebral atrophy	OMIM:617050
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Spastic gait	OMIM:207800
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, ...	ORPHA:459070
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Gait ataxia, Seizure, Gait disturbance, Dysphagia, Failure to thrive,...	ORPHA:254892
Choreoacanthocytosis	Caudate atrophy, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action ...	ORPHA:2388
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Aggressive behavior	OMIM:606688
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Oral-pharyngeal dysphagia, Cerebral atrophy, Gait ataxia, Seizure, Gait disturbance, Neur...	OMIM:616878
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Focal motor seizure, Seizur...	ORPHA:79241
Severe Congenital Nemaline Myopathy	Increased connective tissue, Flexion contracture, Dysphagia, Arthrogryposis multiplex congenita, ...	ORPHA:171430
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Gm2-Gangliosidosis, Ab Variant	Seizure, Neurodegeneration, Cerebral atrophy, Myoclonic seizure	OMIM:272750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Cerebral atrophy, Growth delay, Sei...	OMIM:301040
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Weight loss, Lower-limb joint contracture, Generalized my...	ORPHA:99885
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Seizure, Gliosis, Camptodactyly, Joint cont...	OMIM:617403
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Poliomyelitis	Abnormal motor nerve conduction velocity, Anorexia, Diminished movement, Inability to walk, Agita...	ORPHA:2912
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,...	OMIM:619475
Infantile Dystonia-Parkinsonism	Hypokinesia	ORPHA:238455
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Gait ataxia, Seizure, Dysphagia, Genera...	ORPHA:255210
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Congenital diaphragmatic h...	OMIM:301044
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Seizure	ORPHA:217260
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic...	ORPHA:3044
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Choreoathetosis, Neurodegeneration, Disinhibition, Dysphagia	OMIM:606159
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Gliosis	OMIM:231680
Typical Nemaline Myopathy	Waddling gait, Flexion contracture, Gait disturbance, Arthrogryposis multiplex congenita, Hypokin...	ORPHA:171436
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Ataxia, Impulsivity, Gait disturbance, Neurodegeneration, Loss of ambulation	OMIM:614298
W Syndrome	Bilateral tonic-clonic seizure, Camptodactyly	ORPHA:2804
Sandhoff Disease	Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:268800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Bilateral tonic-clonic seizure, Large for gestational age, Gait atax...	ORPHA:457359
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615474
Webb-Dattani Syndrome	Short stature, Obesity, Bilateral tonic-clonic seizure	OMIM:615926
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Failure to thrive in infancy, Proportionate short stature, Dysplastic ...	ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Unsteady...	OMIM:614947
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation, Neurodegeneration	ORPHA:803
Chediak-Higashi Syndrome	Ataxia, Decreased nerve conduction velocity, Seizure, Gait disturbance, Neurodegeneration	OMIM:214500
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Inguinal hernia, Bilateral tonic-clonic seizure, Large for gestational age, Cer...	OMIM:280000
Hallermann-Streiff Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age, Proportionate short sta...	OMIM:234100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Gabriele-De Vries Syndrome	Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Distal arthrogryposis, Glios...	ORPHA:506358
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Failure to thrive	OMIM:252010
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Growth delay, Bilateral tonic-clonic seizure	ORPHA:436159
Oliver Syndrome	Bilateral tonic-clonic seizure, Camptodactyly of finger, Elbow flexion contracture, Knee flexion ...	ORPHA:2920
Chronic Visceral Acid Sphingomyelinase Deficiency	Short stature, Ataxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, A...	ORPHA:77293
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inability to walk, Typical absence seizure, Growth delay, Seizure, Bruxism, Agenesis of corpus ca...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inability to walk, Typical absence seizure, Growth delay, Seizure, Bruxism, Agenesis of corpus ca...	ORPHA:352665
Pseudoleprechaunism Syndrome, Patterson Type	Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Generalized non-motor (absence) seizure	ORPHA:293978
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Diffic...	ORPHA:268810
Hartsfield Syndrome	Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Lobar holoprosencephaly, Growth delay, ...	OMIM:615465
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ...	OMIM:612474
Wilson Disease	Hypokinesia, Decreased nerve conduction velocity, Seizure, Dysphagia, Chondrocalcinosis	OMIM:277900
Sotos Syndrome	Hip contracture, Inguinal hernia, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, A...	ORPHA:821
Combined Oxidative Phosphorylation Deficiency 3	Intrauterine growth retardation, Seizure, Ataxia, Bilateral tonic-clonic seizure	OMIM:610505
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Flexion contrac...	OMIM:253220
X Small Rings	Growth delay, Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short stature, Focal-onset seizure, Typical absence seizure, Obesity, Intrauterine growth retarda...	OMIM:617157
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure, Failure to thrive in infancy	ORPHA:79124
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Broad-based gait, Gait disturbance, Difficulty walking	ORPHA:79244
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure, Dysphagia	ORPHA:319213
Gaucher Disease	Short stature, Bilateral tonic-clonic seizure, Ataxia, Hydrocephalus, Dysphagia, Delayed puberty,...	ORPHA:355
Hurler Syndrome	Inguinal hernia, Short stature, Hydrocephalus, Flexion contracture, Neurodegeneration, Hernia, Um...	OMIM:607014
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Ina...	ORPHA:261537
Ogden Syndrome	Inguinal hernia, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postna...	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Epileptic spasm, Severe short stature, Generalized non-motor (absence) seizure, Seizure, Status e...	ORPHA:2636
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Flexion contracture, Abnormal repetitive mannerisms, Agenesis of co...	ORPHA:2152
Cocaine Intoxication	Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure...	ORPHA:90068
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Ina...	ORPHA:261552
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Ataxia, Olivopontocerebellar atrophy	OMIM:146500
Carpenter Syndrome 2	Obesity, Generalized non-motor (absence) seizure, Knee flexion contracture, Camptodactyly, Umbili...	OMIM:614976
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Epileptic spasm, Short stature, Inability to walk, Seizure, Myoclonus, Dysphagi...	ORPHA:438213
Nijmegen Breakage Syndrome	Hyperactivity, Short stature, Glioma, Neurodegeneration, Intrauterine growth retardation	OMIM:251260
Rat-Bite Fever	Diminished movement, Weight loss	ORPHA:31205
Doors Syndrome	Small cerebellar cortex, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awarenes...	ORPHA:79500
Primrose Syndrome	Hip contracture, Restlessness, Short stature, Ataxia, Aggressive behavior, Flexion contracture, K...	OMIM:259050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Danon Disease	Hypokinesia	OMIM:300257
Kabuki Syndrome 1	Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Hyd...	OMIM:147920
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Alström Syndrome	Dorsocervical fat pad, Short stature, Ataxia, Typical absence seizure, Obesity, Truncal obesity, ...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lgi1

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 Lgi1.

No publications found that use IMPC mice or data for Lgi1.

Order Mouse and ES Cells

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
Lgi1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lgi1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lgi1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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