Gene Summary

Name:
sodium channel, voltage-gated, type I, beta
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Scn1bem1(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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Early Infantile Epileptic Encephalopathy
Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age ran... 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 Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Benign Occipital
EEG abnormality, Seizure OMIM:132090
Epilepsy, Reading
EEG abnormality, Seizure OMIM:132300
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... 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
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... OMIM:615400
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... OMIM:616187
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia ORPHA:1182
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... OMIM:613722
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... OMIM:245570
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera... OMIM:615006
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... OMIM:117100
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Seizure OMIM:614023
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal im... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co... OMIM:618587
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:619970
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Continuous spike and waves during slow sleep, Seizu... ORPHA:163721
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, EEG abnormality, Bilateral tonic-clonic se... OMIM:617836
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Nodular Neuronal Heterotopia
EEG abnormality, Seizure ORPHA:2149
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... OMIM:616139
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:162350
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, M... OMIM:614018
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth... OMIM:616409
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... OMIM:617106
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,... OMIM:618141
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... ORPHA:101071
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Seizure, Ataxia OMIM:619061
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... OMIM:617113
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei... OMIM:617904
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Dystonia... OMIM:618924
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... OMIM:616346
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... ORPHA:98818
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Truncal ataxia, EEG abnormality, Seizure OMIM:608636
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor 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
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Seizure, Generalized non-mo... OMIM:620540
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, B... OMIM:620453
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clon... OMIM:616230
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Progressive extrapyramidal movement disorder, Generalized myoclonic seizure, Seizure, Cho... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... OMIM:615362
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Seizure, EEG with generalized polyspikes, Ataxia, Generalized myoclonic seizure, R... OMIM:614706
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wi... OMIM:616366
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Dys... ORPHA:53583
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre... OMIM:616540
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality ORPHA:1361
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Delayed menarche, Focal-onset seizu... ORPHA:330050
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,... OMIM:611726
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... ORPHA:268947
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B... OMIM:619605
Severe Neonatal-Onset Encephalopathy With Microcephaly
Spasticity, Involuntary movements, Seizure, EEG with focal slow activity, Bilateral tonic-clonic ... ORPHA:209370
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... OMIM:617711
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Dysmetria, T... OMIM:617810
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... ORPHA:308
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Short stature, Dystonia, Spasti... OMIM:619065
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Infantile Convulsions And Choreoathetosis
Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... ORPHA:31709
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology, Seizure OMIM:601780
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tremor, EEG with poly... OMIM:617665
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, EEG abnormality, Bilateral tonic-c... OMIM:613970
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Progressive Myoclonic, 11
Seizure, Giant somatosensory evoked potentials, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Intrauterine growth retardation, Myoclonu... OMIM:620145
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bilateral ton... OMIM:300423
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Continuous spike and waves during slow sleep, Gen... OMIM:619913
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Rigidity, Dystonia, Clumsiness, Parkinsonism, Bilateral... OMIM:619911
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, EEG with... OMIM:612164
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, F... OMIM:226750
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Generalized... OMIM:619701
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Chorea, EEG abnormality, Dystonia, Focal-onset seizure OMIM:618760
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Bilateral tonic-clonic... ORPHA:100988
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, General... OMIM:617976
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Developmental And Epileptic Encephalopathy 106
Postnatal growth retardation, Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hyperto... OMIM:620028
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Intrauterine growth retardation, Appendicular spasticity, Bilateral tonic... OMIM:617082
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to... OMIM:617493
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spastic tetraplegia, Oculogyr... ORPHA:208447
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus... OMIM:609056
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Gait ataxia, Hand tremor, Bilateral tonic-clonic seizure OMIM:617862
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Ankle clonus, Babinski sign, Limb hypertonia, Hy... OMIM:301058
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu... OMIM:618093
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Bilateral tonic-clonic seizure, Generali... OMIM:618090
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:208441
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... OMIM:619301
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... ORPHA:352582
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Growth delay, Spastic tetraplegia OMIM:614483
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Rasmussen Subacute Encephalitis
Hemidystonia, Hemiparesis, Bilateral tonic-clonic seizure with generalized onset, Focal motor sei... ORPHA:1929
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Hyperkinetic movements, Tonic seizure, Bi... OMIM:618497
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic mov... OMIM:271980
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Frequent falls, Generalized myoclonic... OMIM:301020
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... OMIM:619302
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz... OMIM:619616
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Spasti... OMIM:618770
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia OMIM:276880
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia OMIM:611603
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Nocturnal seizures,... OMIM:619725
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... OMIM:618856
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Chorea, Gait ataxia, T... OMIM:618917
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... ORPHA:313772
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Spasticity, Seizure, Ataxia OMIM:620317
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Status epilepticus without prominen... OMIM:617105
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic... OMIM:617166
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Spasticity, Seizure, Ataxia OMIM:300067
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s... OMIM:617290
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality, Bilater... ORPHA:529665
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia, Short stature, Interictal epile... OMIM:300699
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni... OMIM:615859
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Growth delay OMIM:278780
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor OMIM:312910
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Clumsiness, ... ORPHA:2590
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Hemiparesis, EEG abnormality, Bilateral tonic-clonic seizure,... OMIM:604317
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low... ORPHA:98811
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Intrauterine growth retardation, Gait ataxia, Bilateral tonic-clonic seizure, EEG with f... ORPHA:488635
Foxg1 Syndrome
Spasticity, Infantile spasms, Myoclonus, Focal-onset seizure, Hyperkinetic movements, Severe post... ORPHA:561854
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Dystonia OMIM:203740
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Spastic gait, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Short s... OMIM:615031
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Par... ORPHA:98784
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Peho-Like Syndrome
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Glut1 Deficiency Syndrome 2
Seizure, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slo... ORPHA:168491
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms... ORPHA:485350
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sig... OMIM:213600
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Clumsiness, Limb tremor... OMIM:256731
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w... OMIM:618559
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Seizure, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Tortico... ORPHA:71517
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Intra... OMIM:620379
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c... OMIM:204200
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Phenylketonuria
Seizure, Tremor, Lower limb spasticity, EEG abnormality, Ataxia ORPHA:716
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Intrauterine growth retardation, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:618237
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Dysmetria, Babinski sign... OMIM:618170
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal... ORPHA:457205
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myoclonus, Dy... ORPHA:79263
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Seizure, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal si... OMIM:615528
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor OMIM:158580
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apraxia, Bilateral ton... ORPHA:93952
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exag... OMIM:300607
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Focal myoclonic seizure, Seizure, Progressive spastic p... ORPHA:464282
Dk1-Cdg
Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s... ORPHA:91131
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Developmental And Epileptic Encephalopathy 28
Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile... OMIM:616211
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Babins... ORPHA:363654
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Spinocerebellar Ataxia With Epilepsy
Dysdiadochokinesis, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG with occipital epileptiform di... ORPHA:254881
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp... OMIM:616281
Severe Canavan Disease
Spasticity, Seizure, Babinski sign, Bilateral tonic-clonic seizure, Decerebrate rigidity ORPHA:314911
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Developmental And Epileptic Encephalopathy 46
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Infantile Cerebellar-Retinal Degeneration
Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:614559
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized onset, Lower limb s... OMIM:619028
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, Tremor, Ataxia, Status e... OMIM:614307
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
EEG with generalized epileptiform discharges, Seizure, Generalized-onset seizure, Bilateral tonic... OMIM:619827
Hsd10 Disease
Spastic paraparesis, Seizure, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Ataxia, ... ORPHA:391417
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Seizure, Limb hypertonia, EEG abnormality, Bilatera... ORPHA:488613
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bi... OMIM:619983
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Seizure, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g... OMIM:618451
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Leukodystrophy, Hypomyelinating, 6
Spasticity, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Chore... OMIM:612438
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin... ORPHA:70594
Sulfite Oxidase Deficiency, Isolated
Ataxia, Generalized dystonia, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Multifocal ... OMIM:272300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hypertonia, Foc... OMIM:619854
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis ORPHA:3129
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, Dysdiado... OMIM:614831
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Growth delay OMIM:615716
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Seizure, Ataxia OMIM:300983
Cystathioninuria
Tremor, Seizure ORPHA:212
Null Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased n... ORPHA:280234
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Seizure, Tremor, Rigidity, Ataxia, Decreased sensory n... OMIM:603472
Canavan Disease
Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:271900
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations ORPHA:65684
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Seizure OMIM:309545
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... ORPHA:1942
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Epileptic spasm, Hypsarrhythmia, Hypertonia, Bilateral tonic-clonic seizure OMIM:619877
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Lissencephaly 9 With Complex Brainstem Malformation
Spasticity, Myoclonic seizure, Involuntary movements, Seizure, Infantile spasms, Bilateral tonic-... OMIM:618325
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Fasciculations, Abnormality of extrapyramidal motor function, ... ORPHA:275864
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremo... ORPHA:477673
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Neuroectodermal Melanolysosomal Disease
Spasticity, Seizure, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Lafora Disease
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... ORPHA:501
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Bi... OMIM:617600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Seizure, Focal EEG discharges with secondary generalization, Tremor, Parkinsonism... ORPHA:3077
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Short stature, Upper lim... ORPHA:457240
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Frequent falls, Generalized ... OMIM:159950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Seizure OMIM:619470
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Clumsiness, Bilateral tonic-clonic seizure, Sho... OMIM:300558
Hyperekplexia 3
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Focal motor seizure, Generalized dystonia, Bilateral tonic-clonic seizure OMIM:618235
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine... OMIM:261640
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... ORPHA:64280
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Bradyki... OMIM:617435
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, EEG with generalized sharp slow waves, EEG with focal sharp waves, Intrauterine growth r... ORPHA:79243
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Dysdiadochokinesi... ORPHA:98761
Saccharopinuria
Seizure, Gait ataxia, Tremor, Short stature, Spastic diplegia ORPHA:3124
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnor... ORPHA:391411
Gm2 Gangliosidosis, Ab Variant
Seizure, Postnatal growth retardation, Chorea, Progressive spastic quadriplegia, Abnormal pyramid... ORPHA:309246
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit... OMIM:220120
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Spastic paraplegia, Short stature, Seizure OMIM:620655
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Seizure, Abnormality of coordination, Myoclonus, Tremor, Rigid... ORPHA:442835
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Seizure, Febrile... ORPHA:206443
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Seizure, Postural tremor, Dysmetria, Tremor, Babinski sign, Delayed puberty, Ataxia, ... OMIM:607694
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Pitt-Hopkins-Like Syndrome 1
Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo... OMIM:610042
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, Focal motor seizure ORPHA:542310
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:618010
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinson... OMIM:618877
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon... OMIM:600721
4H Leukodystrophy
Seizure, Upper motor neuron dysfunction, Dysmetria, Tremor, Abnormality of extrapyramidal motor f... ORPHA:289494
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
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Interictal EEG abnormality, Clumsiness, Parkinsonism, Bilateral... ORPHA:79264
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Sandhoff Disease, Infantile Form
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st... ORPHA:309155
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Hand tremor, Progressive extrapyramidal muscular rigidity, Torsion... ORPHA:53351
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea, Bilateral tonic-clonic seizure ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Multifocal epilept... OMIM:616672
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Generalized myoclonic seizure, Seizure, Incoordination, Infantile spasms, ... ORPHA:480864
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-... ORPHA:98795
Early Infantile Epileptic Encephalopathy
Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age ran... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discha... OMIM:616973
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Pa... OMIM:606693
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Pseudobulbar paralysis, Hemiparesis, Rigidity, Spastic ataxia, Abnormal pyramidal sig... ORPHA:199354
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Seizure, EEG with generalized slow activ... OMIM:300055
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Myoclonic seizure, Tetraparesis, Tremor, Tonic seizure OMIM:620546
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, EEG with generalized slow activity, Interictal EEG abnormality, Infantile sp... ORPHA:544503
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Sneddon Syndrome
Tremor, Chorea, Seizure, Hemiparesis ORPHA:820
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor, Ret... OMIM:615651
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Intrauterine growth retardation, Babinski sign, Clonus, Li... ORPHA:423479
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton... OMIM:617281
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Spasticity, EEG abnormality, Seizure OMIM:618718
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature OMIM:213200
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Seizure, Tremor, Babinski sign, Limb hypertonia, EEG abnormality, Short statur... ORPHA:35708
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor, Ataxia ORPHA:101075
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia... OMIM:619738
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Tremor, Ataxia, Dystonia, Growth delay, Choreoathetosis OMIM:619422
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Limb dystonia, Gait ataxia... ORPHA:363400
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Short stature, Truncal ataxia, Dysdiado... OMIM:610185
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Spasticity, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Limb dystonia, EE... ORPHA:457351
Waisman Syndrome
Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable r... OMIM:311510
Pyruvate Dehydrogenase Deficiency
Spasticity, Seizure, Cerebral palsy, Intrauterine growth retardation, Tremor, Abnormal pyramidal ... ORPHA:765
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... OMIM:618060
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Bilateral tonic-clonic seizure OMIM:618120
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia,... OMIM:607483