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Gene: Scn1b MGI:98247

Gene Summary

Name:

sodium channel, voltage-gated, type I, beta

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Scn1b^em1(IMPC)H	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Scn1b 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 Scn1b (10 diseases)
Human diseases predicted to be associated with Scn1b (678 diseases)

The table below shows human diseases associated to Scn1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
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
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S...	ORPHA:33069
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Atrial Fibrillation, Familial, 13		OMIM:615377
Familial Progressive Cardiac Conduction Defect		ORPHA:871
Brugada Syndrome		ORPHA:130
Familial Atrial Fibrillation		ORPHA:334
Brugada Syndrome 5		OMIM:612838

The table below shows human diseases predicted to be associated to Scn1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy, Benign Occipital	EEG abnormality, Seizure	OMIM:132090
Epilepsy, Reading	EEG abnormality, Seizure	OMIM:132300
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener...	OMIM:601068
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike...	OMIM:615127
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg...	OMIM:619964
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG...	OMIM:613608
Epilepsy, Familial Temporal Lobe, 5	Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal...	OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure	OMIM:611364
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo...	OMIM:616187
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Continuous Spikes And Waves During Sleep	Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc...	ORPHA:725
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia	ORPHA:1182
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ...	OMIM:254770
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm...	OMIM:613722
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Speech apraxia, Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure wit...	OMIM:245570
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia...	OMIM:615006
Centralopathic Epilepsy	Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi...	OMIM:117100
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hypertonia	OMIM:614023
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w...	ORPHA:599373
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ...	OMIM:615369
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus	OMIM:617171
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se...	OMIM:617389
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ...	OMIM:618587
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S...	OMIM:619970
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo...	ORPHA:163721
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnorm...	OMIM:617836
Nodular Neuronal Heterotopia	EEG abnormality, Seizure	ORPHA:2149
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ...	OMIM:254800
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp...	OMIM:616139
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst...	OMIM:104290
Cortical Malformations, Occipital	EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik...	OMIM:607682
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse...	OMIM:617391
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E...	OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure	OMIM:619639
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure	OMIM:610003
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Juvenile Absence Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen...	ORPHA:1941
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclon...	OMIM:616409
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi...	OMIM:613855
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp...	OMIM:617113
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ...	ORPHA:101071
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus	ORPHA:86814
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Multifocal epileptiform ...	OMIM:617904
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence...	ORPHA:2382
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G...	OMIM:266100
Spinocerebellar Ataxia, Autosomal Recessive 12	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Limb ataxia, Gait a...	OMIM:614322
Epilepsy, Childhood Absence, Susceptibility To, 1	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:600131
Febrile Seizures, Familial, 8	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:607681
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D...	OMIM:614561
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G...	OMIM:605021
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Seizure, Ataxia, Spastic tetraparesis	OMIM:619061
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz...	ORPHA:98820
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto...	OMIM:618924
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG...	ORPHA:86909
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul...	OMIM:607876
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni...	ORPHA:140927
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ...	OMIM:607745
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, Bilateral tonic-clonic seizure, Truncal ataxia, EEG abnormality	OMIM:608636
Landau-Kleffner Syndrome	Interictal EEG abnormality, Speech apraxia, EEG with frontal focal spikes, Bilateral tonic-clonic...	ORPHA:98818
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w...	ORPHA:139431
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ...	OMIM:616230
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz...	ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure	OMIM:612621
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
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
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys...	ORPHA:53583
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti...	OMIM:619000
Ceroid Lipofuscinosis, Neuronal, 11	Retinal dystrophy, Ataxia, EEG with generalized polyspikes, Optic atrophy, Seizure, Generalized m...	OMIM:614706
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) se...	OMIM:619157
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia	OMIM:616341
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Carnosinase Deficiency	Generalized myoclonic seizure, EEG abnormality	ORPHA:1361
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Seizure, Ataxia, Apraxia	ORPHA:85338
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Unilateral Focal Polymicrogyria	EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit...	ORPHA:268947
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, A...	OMIM:616645
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure...	OMIM:611726
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e...	ORPHA:330050
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Growth...	ORPHA:209370
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 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm, Hypsarrhythmia	OMIM:619561
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 6A	Seizure, Abnormal nervous system electrophysiology	OMIM:601780
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizur...	OMIM:617711
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl...	OMIM:617810
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus...	OMIM:619065
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten...	ORPHA:308
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
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
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur...	OMIM:613970
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei...	ORPHA:31709
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g...	ORPHA:263516
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Ataxia, Poor coordination, Generalized non-motor (absence) sei...	OMIM:617665
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor	OMIM:618876
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria	OMIM:619191
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines...	OMIM:300423
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic...	OMIM:619913
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619301
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo...	OMIM:619911
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait ataxia, Generali...	OMIM:618090
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para...	OMIM:612164
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, S...	OMIM:226750
Hereditary Geniospasm	EEG abnormality, Chin myoclonus, Intention tremor	ORPHA:53372
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Autosomal Dominant Spastic Paraplegia Type 6	Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Babinski sign, Spastic pa...	ORPHA:100988
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Chorea, EEG abnormality, Convulsive status epilepticus, Dystonia	OMIM:618760
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
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, H...	OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile...	OMIM:617493
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic...	OMIM:617082
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile...	OMIM:609056
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo...	ORPHA:208447
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Short stature, Hand tremor, Bilateral tonic-clonic seizure	OMIM:617862
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H...	OMIM:301058
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, EEG w...	OMIM:617976
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure...	ORPHA:208441
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo...	OMIM:615744
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener...	ORPHA:352582
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619302
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Brain Small Vessel Disease 2	Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Growth delay, Hemiplegia	OMIM:614483
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi...	OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure...	ORPHA:307
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Rasmussen Subacute Encephalitis	EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene...	ORPHA:1929
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Mitochondrial Complex I Deficiency, Nuclear Type 12	Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni...	OMIM:301020
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, EEG abn...	OMIM:271980
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with mul...	ORPHA:289266
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener...	OMIM:619616
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure	ORPHA:98809
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spastic Paraplegia 82, Autosomal Recessive	Focal-onset seizure, Spasticity, Babinski sign, Bilateral tonic-clonic seizure with generalized o...	OMIM:618770
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Urocanase Deficiency	Broad-based gait, Ataxia, Short stature, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Lissencephaly 3	Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizure, Generalized tonic seizure	OMIM:611603
Diabetes Mellitus, Permanent Neonatal, 2	Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ...	OMIM:618856
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthr...	ORPHA:313772
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S...	ORPHA:33069
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Babinski sign, Focal tonic seizure, Myoclonic se...	OMIM:617105
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Spasticity, Bilateral tonic-clonic seizure, Ataxia	OMIM:620317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Growth delay, Seizure, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Spast...	OMIM:618917
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo...	OMIM:617290
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Multifocal epileptifo...	OMIM:617166
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic...	OMIM:619428
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Seizure, Spasticity, Ataxia	OMIM:300067
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a...	OMIM:615859
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Interictal epile...	OMIM:300699
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com...	OMIM:619338
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Infantile spasms, Tremor, Growth delay, Spasticity	OMIM:278780
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ...	OMIM:614487
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis	OMIM:312910
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status ...	ORPHA:529665
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei...	OMIM:604317
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei...	OMIM:618012
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, EEG with focal spikes, Intrau...	ORPHA:488635
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Seizure, Spastic gait	OMIM:600363
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa...	OMIM:617284
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei...	ORPHA:98811
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Dysmetria, Gait ataxia, Dystonia	OMIM:203740
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spasti...	OMIM:615031
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Foxg1 Syndrome	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathet...	ORPHA:561854
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary move...	ORPHA:98784
Peho-Like Syndrome	Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia	OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi...	OMIM:204200
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis...	OMIM:213600
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D...	OMIM:256731
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra...	ORPHA:71517
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-...	ORPHA:485350
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ...	ORPHA:2590
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor...	OMIM:618170
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Spastic Paraplegia 89, Autosomal Recessive	Ataxia, Spastic paraplegia, Seizure, Intrauterine growth retardation, Febrile seizure (within the...	OMIM:620379
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Bilateral tonic-clonic seizure, Spastic tetraplegia, Dystonia	OMIM:618237
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei...	ORPHA:363558
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, EEG abnormality, Dystonia, A...	ORPHA:457205
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Short stature, Absent pubertal growth spurt, Bilateral tonic-clonic seizur...	ORPHA:464282
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Babinski sign, Slurred speech, ...	ORPHA:93952
Late Infantile Neuronal Ceroid Lipofuscinosis	EEG with generalized slow activity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, ...	ORPHA:168491
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsin...	ORPHA:79263
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Dyst...	OMIM:615528
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Cln5 Disease	Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, Focal-onset seizure, ...	ORPHA:228360
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Severe Canavan Disease	Bilateral tonic-clonic seizure, Babinski sign, Seizure, Decerebrate rigidity, Spasticity	ORPHA:314911
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Dk1-Cdg	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal ...	ORPHA:91131
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent...	OMIM:614307
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa...	OMIM:616281
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon...	ORPHA:363654
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia	OMIM:618951
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Limb hypertonia	OMIM:617162
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc...	OMIM:619827
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Cataract-Ataxia-Deafness Syndrome	Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Hypertonia	ORPHA:1368
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges,...	OMIM:272300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ...	OMIM:619983
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spas...	ORPHA:391417
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Leukodystrophy, Hypomyelinating, 6	Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, ...	OMIM:612438
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc...	OMIM:619854
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Seizure, Bradykinesia, Dystoni...	ORPHA:70594
Developmental And Epileptic Encephalopathy 61	Seizure, Spasticity, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform...	OMIM:271900
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti...	ORPHA:488613
Sarcosinemia	Bilateral tonic-clonic seizure, Tetraparesis, Ataxia	ORPHA:3129
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Growth delay, Seizure	OMIM:615716
Spinocerebellar Ataxia, Autosomal Recessive 13	Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysdiado...	OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho...	OMIM:618451
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Atypical Rett Syndrome	Dystonia, Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Growth delay, Seizure, EE...	ORPHA:3095
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c...	ORPHA:1942
Cystathioninuria	Tremor, Seizure	ORPHA:212
Intellectual Developmental Disorder, X-Linked 104	Tremor, Seizure, Spasticity, Ataxia	OMIM:300983
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Paresthesia	OMIM:615361
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Seizure, Decreased sensory n...	OMIM:603472
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	ORPHA:329284
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Monomelic Amyotrophy	Tremor, Fasciculations, Abnormality of peripheral nerve conduction	ORPHA:65684
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram...	ORPHA:397946
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Seizure	OMIM:309545
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Crigler-Najjar Syndrome Type 1	Tremor, Seizure	ORPHA:79234
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclonic seizure, Hypertonia	OMIM:619877
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi...	OMIM:620292
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, EEG...	ORPHA:275864
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Involuntary movements, Myoclonic...	OMIM:618325
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity	ORPHA:33445
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Lafora Disease	Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei...	ORPHA:501
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur...	OMIM:159950
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 mo...	ORPHA:477673
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper lim...	ORPHA:457240
Intellectual Developmental Disorder, X-Linked 30	Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsines...	OMIM:300558
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Short stature, Parkinsonism, Focal EEG discharges with sec...	ORPHA:3077
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, Focal impaired ...	OMIM:617435
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Seizure, Spastic tetraparesis	OMIM:619470
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, EEG with focal sharp waves, Hypsarrhyth...	ORPHA:79243
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto...	OMIM:261640
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypsarrhythmia, Growth delay, Seizure, Opist...	OMIM:220120
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi...	OMIM:600721
Spinocerebellar Ataxia Type 10	Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski sign, Focal motor seiz...	ORPHA:98761
Saccharopinuria	Short stature, Tremor, Spastic diplegia, Gait ataxia, Seizure	ORPHA:3124
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali...	OMIM:610042
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram...	ORPHA:309246
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Hyps...	ORPHA:442835
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dela...	OMIM:607694
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure,...	OMIM:618877
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination...	ORPHA:79264
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
4H Leukodystrophy	Dystonia, Short stature, Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadocho...	ORPHA:289494
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ...	OMIM:616672
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f...	ORPHA:98795
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ...	ORPHA:276435
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina...	ORPHA:480864
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dystonia, Spasticity	ORPHA:542310
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres...	OMIM:616973
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Cln3 Disease	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, My...	ORPHA:228346
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Bilateral tonic-clonic seizure, Rigidity, Abnormal pyramidal sign, Hemiparesis, P...	ORPHA:199354
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil...	ORPHA:544503
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Sneddon Syndrome	Tremor, Seizure, Chorea, Hemiparesis	ORPHA:820
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni...	OMIM:617281
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Seizure, Spasticity, EEG abnormality	OMIM:618718
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ...	OMIM:615651
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Ataxia, Tremor	ORPHA:101075
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth...	OMIM:607483
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Parkinsonism wi...	OMIM:311510
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Growth delay, Seizure, Choreoathetosis, Dystonia	OMIM:619422
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit...	ORPHA:282166
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Bilateral tonic-clonic seizure	OMIM:540000
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep...	ORPHA:363400
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	OMIM:300894
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, EEG wi...	ORPHA:457351
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intent...	OMIM:610185
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap...	OMIM:618060
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Seizure, Choreoathetosis, ...	ORPHA:765
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Bilateral tonic-clonic seizure	OMIM:618120
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Ataxia, Tremor	ORPHA:101078
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa...	ORPHA:329308
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Trisomy X	Tremor, Seizure	ORPHA:3375
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, E...	ORPHA:163681
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:79351
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic seizure, Myoclonic...	OMIM:619580
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebral palsy, Short stature, Bilateral tonic-clonic seizure, Spastic t...	OMIM:620070
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Clonus, Bilateral tonic-clonic seizure, Spastic tetraparesis, Babinski sign, Intra...	ORPHA:423479
Nipah Virus Disease	Tremor, Seizure, Myoclonus	ORPHA:99825
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz...	OMIM:615501
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Hyperton...	OMIM:617710
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G...	OMIM:616640
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Classic Phenylketonuria	Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemiplegia	ORPHA:79254
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp...	ORPHA:369929
Pelizaeus-Merzbacher Disease	Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par...	OMIM:312080
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,...	ORPHA:268940
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Japanese Encephalitis	Decreased motor nerve conduction velocity, Dystonia, Bilateral tonic-clonic seizure, Weakness due...	ORPHA:79139
Spontaneous Periodic Hypothermia	Tremor, Seizure, Ataxia	ORPHA:29822
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclo...	ORPHA:364028
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Eating-induced seizure, Myoclonic a...	ORPHA:544254
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Pelger-Huet Anomaly	Mild short stature, Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure	OMIM:169400
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Growth delay, Seizure, Choreoathetosis, Status epilep...	OMIM:615673
Sialidosis Type 2	Tremor, Seizure, Short stature, Ataxia	ORPHA:87876
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor...	ORPHA:206594
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Clumsiness, Poor fine motor coordination, ...	ORPHA:137898
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, P...	OMIM:300912
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Optic disc pallor, Generalized-onset seizure, Akinesia, Optic neuropathy, ...	OMIM:618249
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Short stature, Photosensitive myoclonic seizure	ORPHA:1192
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Seizure, Vocal cord paralysis, Tremor	ORPHA:397744
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Postnatal growth retardation, Spastic tetr...	OMIM:614222
Jaberi-Elahi Syndrome	Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Choreoat...	OMIM:617988
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Paraparesis, Ataxia, Tremor	ORPHA:99014
Ddost-Cdg	Tremor, Seizure, Oromotor apraxia, Short stature	ORPHA:300536
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi...	ORPHA:1170
Sialidosis Type 1	Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Seizure, EEG ...	ORPHA:812
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized n...	ORPHA:395
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Multifocal epileptiform discharges, Genera...	OMIM:615398
Ritscher-Schinzel Syndrome 4	Short stature, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis	OMIM:619435
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Growth delay, Sei...	OMIM:617193
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Ataxia-Telangiectasia	Short stature, Ataxia, Tremor, Seizure, Delayed puberty, Spasticity	ORPHA:100
Bone Marrow Failure Syndrome 5	Growth delay, Short stature, Bilateral tonic-clonic seizure	OMIM:618165
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Limb trem...	OMIM:218000
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Bilateral tonic-clonic seizure, Truncal ataxia	ORPHA:369840
Sandhoff Disease	Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Fascicul...	OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Involuntary movements, Generalized non-motor (absence) seizure, G...	OMIM:617798
Intellectual Developmental Disorder, X-Linked 12	Short stature, Tremor, Seizure, Hyperkinetic movements, Spasticity	OMIM:300957
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo...	OMIM:620024
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert...	OMIM:618056
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Growth delay, Fasciculations, Pr...	ORPHA:496641
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Hermansky-Pudlak Syndrome 10	EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia	OMIM:617050
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges	ORPHA:453510
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	ORPHA:42
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Seizure	ORPHA:276608
Sneddon Syndrome	Tremor, Seizure, Hemiplegia	OMIM:182410
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro...	OMIM:535000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se...	OMIM:620224
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Intention tremor	OMIM:616505
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:614207
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Seizure, Spasticity, Focal myoclonic seizure, Limb hypert...	ORPHA:481152
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnor...	ORPHA:52368
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Growth delay, Seizure,...	ORPHA:247262
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) sei...	OMIM:615802
Congenital Disorder Of Glycosylation, Type Ij	Infantile spasms, Tremor, Hypsarrhythmia, Seizure, Hypertonia	OMIM:608093
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Ataxia, Vocal cord paralysi...	OMIM:617799
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, EEG with focal spike waves, Ataxia, Generalized clonic seizure, Tremor, Fo...	OMIM:619229
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys...	OMIM:614381
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure	OMIM:600092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Dystonia, Short stature, Ataxia, Tremor, Chorea, Seizure, EEG abnormality, Atheto...	OMIM:615356
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Growth delay, Pseudobulbar...	OMIM:616586
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
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
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Intrauterine growth reta...	OMIM:620327
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Growth delay, Seizure, Hyperto...	OMIM:252160
De Sanctis-Cacchione Syndrome	Severe short stature, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreo...	OMIM:278800
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Seizure, Choreoathetosis, Hyperkinetic mo...	OMIM:616271
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypsarrhythmia, ...	ORPHA:447997
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, EEG with burst ...	OMIM:618143
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Spastic p...	ORPHA:79241
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Truncal a...	OMIM:105210
1Q44 Microdeletion Syndrome	Growth delay, Short stature, Bilateral tonic-clonic seizure	ORPHA:238769
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Seizure, A...	ORPHA:25
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Infantile spasms, Decreased ...	OMIM:618733
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Typical absence seizure, Dysmetri...	ORPHA:845
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni...	ORPHA:255210
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Ataxia, Tremor, Seizure, Dystonia, Intrauterine growth retardation	OMIM:610505
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Bilateral tonic-clonic seizure, Postnatal growth retardation, Tetraplegia, Seizure...	OMIM:257300
Adult-Onset Autosomal Dominant Leukodystrophy	EEG with generalized slow activity, Ataxia, Clonus, Abnormal auditory evoked potentials, Upper li...	ORPHA:99027
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Limb hypertonia	ORPHA:99742
Webb-Dattani Syndrome	Spasticity, Short stature, Bilateral tonic-clonic seizure	OMIM:615926
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Tremor, A...	OMIM:614947
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Ataxia, EEG with abnormally slow frequencies, Tremor, Seizure, EEG abnormality, Myoclonus	ORPHA:98794
Melas	Abnormal central motor function, Short stature, Bilateral tonic-clonic seizure, Ataxia, Focal-ons...	ORPHA:550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis	OMIM:617186
Wolfram Syndrome 1	Growth delay, Seizure, Ataxia, Tremor	OMIM:222300
Hyperlysinemia	Neck hypertonia, Short stature, Poor motor coordination, Simple febrile seizure, Spastic tetrapar...	ORPHA:2203
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Tremor, EEG with burst suppression, Clonic seizure, Spastic...	OMIM:615574
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Seizure, Ab...	OMIM:612199
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Short stature, Ataxia, Growth delay, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity	OMIM:608885
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Wars2-Related Combined Oxidative Phosphorylation Defect	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Limb dys...	ORPHA:572798
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short stature, Bilateral ...	OMIM:612313
Choreoacanthocytosis	Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Bilateral tonic-...	ORPHA:2388
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Spasticity	OMIM:301040
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seizure, Lower limb hypertoni...	ORPHA:447753
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca...	OMIM:301044
Pseudoleprechaunism Syndrome, Patterson Type	Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Growth delay, Bilateral tonic-clonic seizure	ORPHA:436159
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Seizure, Ataxia	ORPHA:79095
Weaver Syndrome	Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin...	OMIM:277590
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Ataxia-Telangiectasia	Dystonia, Short stature, Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive ce...	OMIM:208900
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus	ORPHA:43116
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ...	OMIM:606002
Mercury Poisoning	Tremor, Seizure, Dystonia	ORPHA:330021
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ...	ORPHA:369837
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia	ORPHA:79124
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Metachromatic Leukodystrophy	Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Seizure, Decerebrate rigidit...	ORPHA:512
Kinsship Syndrome	Short stature, Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, General...	OMIM:619297
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral tonic-clonic seizure, Ataxia, Apraxia, Generalized myoclonic seizure, Intrauterine grow...	ORPHA:99885
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
X Small Rings	Growth delay, Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:2920
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure	OMIM:620066
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Increased theta frequency activity i...	ORPHA:459070
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure, Resting tremor	ORPHA:319213
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Generalized-onset seizure, Ataxia, Dystoni...	ORPHA:646
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu...	ORPHA:466943
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Growth delay, Tongue fasciculations, Spast...	OMIM:252010
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Gaucher Disease	Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor...	ORPHA:355
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short stature, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atonic seizure, Poor...	OMIM:614756
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Proportionate short stature	OMIM:234100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short stature, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Hyperton...	ORPHA:268261
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:488627
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Holoprosencephaly 14	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:619895
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619512
Ogden Syndrome	Torticollis, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal ...	OMIM:300855
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Growth delay, Seizure, Hypertonia, Dystonia	OMIM:617248
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Gait ataxia, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:280000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Seizure, Fe...	ORPHA:513456
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C...	OMIM:234200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Hartsfield Syndrome	Growth delay, Bilateral tonic-clonic seizure	OMIM:615465
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Gait ataxia	ORPHA:457359
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Exaggerated startle response, Short stature, Involuntary movements, Seizure, Myo...	ORPHA:438213
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Dysto...	OMIM:620330
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Doors Syndrome	EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Sotos Syndrome	Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generalized non-motor (absence) seizur...	ORPHA:821
Kabuki Syndrome 1	Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro...	OMIM:147920
Atrial Fibrillation, Familial, 13		OMIM:615377
Brugada Syndrome		ORPHA:130
Familial Atrial Fibrillation		ORPHA:334
Brugada Syndrome 5		OMIM:612838
Familial Progressive Cardiac Conduction Defect		ORPHA:871

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 Scn1b

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 Scn1b.

No publications found that use IMPC mice or data for Scn1b.

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MGI Allele	Allele Type	Produced
Scn1b^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells
Scn1b^em1(IMPC)H	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Scn1b MGI:98247

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Scn1b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data