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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Viewing: all phenotypes

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

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Limb ataxia, Generalized myoclonic seizure, A... OMIM:617350
Early Infantile Epileptic Encephalopathy
Atonic seizure, EEG abnormality, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Atrial Fibrillation, Familial, 13
OMIM:615377
Familial Progressive Cardiac Conduction Defect
ORPHA:871
Brugada Syndrome
ORPHA:130
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 photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enha... 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
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Focal aware seizure, EEG with spike-wave complexes, Visually-in... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... OMIM:617831
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... ORPHA:725
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hypertonia OMIM:614023
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure ORPHA:1182
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, E... OMIM:609446
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, S... OMIM:245570
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with focal sharp waves, Bilateral tonic-clonic ... ORPHA:163721
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca... OMIM:117100
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:613721
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Short stature, Rigidity, Tr... OMIM:617836
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... ORPHA:306
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Seizure OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... OMIM:254800
Nodular Neuronal Heterotopia
EEG abnormality, Seizure ORPHA:2149
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... OMIM:616139
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, ... OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality, Clumsiness OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Interictal epileptiform activity, EEG with focal epileptiform discharges, Bi... ORPHA:101046
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:79137
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, T... OMIM:614018
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure, Short stature OMIM:619639
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi... OMIM:266100
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... OMIM:618924
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... ORPHA:98820
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Dystonia, Abnormality o... OMIM:614561
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... ORPHA:36387
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Hemipare... ORPHA:101071
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexe... ORPHA:86909
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, EEG abnormality, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Bila... OMIM:616230
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes ... OMIM:619317
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia, Seizure OMIM:616366
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
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
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Dysmetria, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... ORPHA:53583
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Abnormal... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, EEG abnormality, Generalized myoclonic seizure, Retinal dystrophy, Optic atrophy, Seizure OMIM:614706
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Interictal epileptiform activity, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized ... OMIM:619157
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic... OMIM:601764
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Cogwheel rigidity,... OMIM:616981
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Carnosinase Deficiency
EEG abnormality, Generalized myoclonic seizure ORPHA:1361
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Seizure OMIM:616187
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Seizure OMIM:616921
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure OMIM:208700
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Bilateral tonic-clonic seizure, Short stature OMIM:608278
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Bilateral tonic-clonic sei... OMIM:617810
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Lissencephaly 10
Torticollis, Atypical absence seizure, Atonic seizure, EEG abnormality, Focal impaired awareness ... OMIM:618873
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Delayed mena... ORPHA:330050
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure... OMIM:619065
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia, Seizure ORPHA:85338
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Ab... OMIM:616645
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology, Seizure OMIM:601780
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... OMIM:607745
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, EEG abnormality, Focal impaired awareness seizure, Chorea, Bilateral tonic-cl... OMIM:613970
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Convulsive status epilepticus, Stereotypical hand wringing, Chorea, Focal-onset ... OMIM:618760
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Unilateral Focal Polymicrogyria
Focal motor seizure, EEG with frontal focal spikes, Focal impaired awareness seizure, EEG with pa... ORPHA:268947
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, EEG with focal epileptiform discharges, Myoclonus, Limb myoclonus,... ORPHA:263516
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Dystonia ORPHA:139406
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Bilateral tonic-clonic seizur... OMIM:300423
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, EE... OMIM:612164
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Bilateral ... OMIM:619911
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, E... OMIM:619605
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Ataxia, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Tonic seizure, Stereotypical hand wringing, Chorea, Febrile sei... OMIM:618917
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Postural tremor, Lower limb sp... ORPHA:100988
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Seizure OMIM:618876
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
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
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Short stature, Myoclonus, Epileptic spasm, Stereotypical h... ORPHA:289266
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, EEG abnormality, Action tremor, EEG with polyspi... OMIM:617665
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... ORPHA:726
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, Bilateral ton... OMIM:619701
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure, Dysmetria, Ataxia OMIM:619191
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Limb ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Gait ataxia OMIM:616291
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Short stature, Tremor, Seizure OMIM:617862
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Developmental And Epileptic Encephalopathy 106
Tonic seizure, Focal clonic seizure, Limb hypertonia, Infantile spasms, Bilateral tonic-clonic se... OMIM:620028
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic tetraple... OMIM:619301
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, EEG with focal spike w... ORPHA:352582
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Ankle clonus, Limb hypertonia, Babinski sign, EEG with burst su... OMIM:301058
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Spasticity, Seizure ORPHA:101685
Brain Small Vessel Disease 2
Hemiplegia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Focal-onset seizure, Growth delay OMIM:614483
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic seizure, G... OMIM:618093
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure OMIM:141500
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal epilep... OMIM:609056
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:208447
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Multifocal epile... ORPHA:363558
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Complex febrile seizure, A... ORPHA:31709
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Spastic... ORPHA:208441
Rasmussen Subacute Encephalitis
Focal impaired awareness seizure, Interictal epileptiform activity, EEG with focal spikes, Focal ... ORPHA:1929
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Developmental And Epileptic Encephalopathy 19
EEG with photoparoxysmal response, Status epilepticus, Atonic seizure, Focal hemiclonic seizure, ... OMIM:615744
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:178469
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic... OMIM:619616
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:618856
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic tetraple... OMIM:619302
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, EEG abnormality, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus... ORPHA:313772
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Short stature, Severe postnatal growth retardation, Myoclon... ORPHA:561854
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... OMIM:271980
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Tonic seizu... OMIM:619428
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, EEG abnormality, Dysmetria, Tremor, Bilateral tonic-clonic seizure, Gait atax... ORPHA:529665
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... ORPHA:307
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus,... OMIM:614487
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia OMIM:615924
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... OMIM:618770
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Spastic paraparesis, Complex febrile seizure, Bilateral tonic-clonic seizure... OMIM:619338
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Hemimegalencephaly
EEG with focal spikes, Status epilepticus, Focal motor seizure, Atonic seizure, EEG with polyspik... ORPHA:99802
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Ataxia, Spasticity, Seizure OMIM:300067
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, EEG abnormality, Athetosis, Tremor, Seizure OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Focal impaired awareness seizure, Generalized myoclonic seizure, EEG with gen... ORPHA:1947
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure OMIM:125370
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia OMIM:203740
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Infantile spasms, Tremor, Spasticity, Growth delay OMIM:278780
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Gait ataxia, Limb ataxia, Seizure ORPHA:404499
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
EEG with focal spikes, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Growth delay, Intrau... ORPHA:488635
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Short stature, Myoclonus, Seizure, Limb tremor, Focal tonic seizure, Interictal epile... OMIM:300699
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Retinal degeneration, Dysmetria, M... OMIM:256731
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity, Seizure OMIM:600363
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... ORPHA:2590
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Atonic se... ORPHA:168491
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset, Clumsiness ORPHA:158
Glutathionuria
Tremor OMIM:231950
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Limb ataxia, Generalized myoclonic seizure, A... OMIM:617350
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Paroxysmal dystonia, Motor stereotypy, Increased theta frequency activity ... ORPHA:98784
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... OMIM:617284
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abnormality of extrapyramidal m... OMIM:204200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Generalized myoclonic seizure, Rigidity, Tremor, Seizure OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261630
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Ataxia, Tremor, Choreoathetosis, Spasticity, Seizure, Oculomotor apraxia, Dystonia OMIM:612716
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Glut1 Deficiency Syndrome 2
Ataxia, EEG abnormality, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:612126
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Focal impaired awareness seizure, Stereotypical hand wringing, Bilateral tonic-clonic... OMIM:619854
Developmental And Epileptic Encephalopathy 79
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Migrati... OMIM:618559
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Short stature OMIM:616113
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, EEG with continuous slow activity, Bilateral tonic-clonic seizure, Fasciculatio... ORPHA:275864
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Dysmetria, Intention tremor, Babinski sign, Bilateral tonic-clonic seizure, Generalized n... OMIM:618170
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Bilateral tonic-clonic seizure, Intrauterine growth retardation, Spastic tetraplegia OMIM:618237
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, Seizure OMIM:618730
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Action tremor, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Freque... ORPHA:93952
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Generalized myoclonic seizure, Short stature, Bilateral tonic-clonic seizure, Focal myocl... ORPHA:464282
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Inability to walk, Short stature, Unsteady gait, Seizure, Oculomotor apraxia OMIM:618273
Severe Canavan Disease
Decerebrate rigidity, Babinski sign, Bilateral tonic-clonic seizure, Spasticity, Seizure ORPHA:314911
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Seizure, Dystonia OMIM:612438
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... ORPHA:1945
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... OMIM:610539
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation OMIM:615361
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... ORPHA:79263
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Short stature, Abnormal pyramidal sign, Tremor, Seizure, Incoordination OMIM:614947
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypertonia, Bilateral tonic-clonic seizure, Spasticity, Generalized non-motor (absence) seizure, ... OMIM:616281
Developmental And Epileptic Encephalopathy 47
Status epilepticus, EEG abnormality, Inability to walk, Limb ataxia, Gait disturbance, Optic disc... OMIM:617166
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Dk1-Cdg
Short stature, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Multifo... ORPHA:91131
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spasticity, Seizure OMIM:617933
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar ataxia OMIM:618412
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Parkinsonism, Ri... OMIM:300894
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus, Fasciculations, Frequent falls, Tremor, Generalized-ons... OMIM:159950
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... OMIM:619877
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Infantile Cerebellar-Retinal Degeneration
Athetosis, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal epile... OMIM:272300
Atypical Rett Syndrome
EEG abnormality, Generalized myoclonic seizure, Hand apraxia, Pill-rolling tremor, Infantile spas... ORPHA:3095
Cln5 Disease
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... ORPHA:228360
Alpha-Methylacyl-Coa Racemase Deficiency
Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Focal-onset seizur... OMIM:614307
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, EEG abnormality, Focal impaired awareness seizure, Limb hypertonia, EEG with genera... ORPHA:488613
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... OMIM:617600
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Seizure OMIM:618951
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, EEG with generalized epileptiform discharges, Bilateral tonic-clonic seizure, Gener... OMIM:619827
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261640
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Rigidi... OMIM:615528
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:619983
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... ORPHA:98795
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Canavan Disease
Opisthotonus, Abnormal pyramidal sign, Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhy... OMIM:271900
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Tremor, Choreoathetosis, Seizure, Postnatal gro... ORPHA:391417
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis ORPHA:3129
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure, Dystonia ORPHA:139485
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Mitochondrial Myopathy With Lactic Acidosis
Growth delay, Focal impaired awareness seizure, Tip-toe gait, Dysmetria, Hemiparesis, Spasticity,... OMIM:251950
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Short stature, Tremor ORPHA:1368
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Short stature, Hyperkinetic movements, Tremor, Bilateral tonic-clonic seizure, ... ORPHA:457240
D-Glyceric Aciduria
Status epilepticus, Opisthotonus, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral to... OMIM:220120
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:300558
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Migraine, Familial Hemiplegic, 2
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Bilateral tonic-clonic seizure, ... OMIM:602481
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-moto... OMIM:615637
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Dys... OMIM:617435
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Cystathioninuria
Tremor, Seizure ORPHA:212
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Seizure OMIM:619470
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxi... OMIM:614831
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Seizure OMIM:309545
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Seizure, Grow... ORPHA:70594
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrauterine growth retardation, Spasticity, Seizure OMIM:617093
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... ORPHA:501
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Null Syndrome
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... ORPHA:280234
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Seizure, Dystonia ORPHA:329284
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Bilat... ORPHA:79264
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Postural tremor OMIM:254900
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Ataxia, EEG with focal spi... ORPHA:1942
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Short stature, Intention tremor, Babinski sign, Abnorm... ORPHA:397946
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor ORPHA:65684
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity, Seizure OMIM:300983
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity, Seizure ORPHA:33445
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Myoc... OMIM:619092
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Short stature, Parkinsonism, Tremor, Focal EEG discharges with secondary generali... ORPHA:3077
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Dentatorubral Pallidoluysian Atrophy
Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia,... ORPHA:101
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Truncal ataxia, Chorea ORPHA:369840
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Seizure OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Hemiplegia, Focal impaired awareness seizure, Limb hypertonia, Infantile spas... OMIM:616973
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure, Postnatal growth retardation ORPHA:79350
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:233910
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years),... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Bilateral tonic-clonic seizure... OMIM:616672
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... ORPHA:391411
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Short stature, Babinski sign, Tremor, Spasticity, Delayed puberty, Seizure, Po... OMIM:607694
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Early Infantile Epileptic Encephalopathy
Atonic seizure, EEG abnormality, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
4H Leukodystrophy
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Seizure, D... ORPHA:289494
Saccharopinuria
Short stature, Spastic diplegia, Tremor, Gait ataxia, Seizure ORPHA:3124
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Abnormal pyramidal sign, Rigidity, Hemiparesis, Bilateral tonic-clonic se... ORPHA:199354
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypertonia, Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized ... ORPHA:480864
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Clonic seizure, Recurrent hand flapping, Focal impaired awareness seizu... OMIM:619580
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypertonia, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:544503
Spinocerebellar Ataxia Type 10
Status epilepticus, Focal motor seizure, Progressive cerebellar ataxia, Focal impaired awareness ... ORPHA:98761
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Tremor, Seizure, Growth delay, Dystonia OMIM:617248
Pyruvate Dehydrogenase E1-Alpha Deficiency
EEG with focal spikes, Ataxia, EEG with focal sharp waves, Infantile spasms, Bilateral tonic-clon... ORPHA:79243
Leukodystrophy, Hypomyelinating, 11
Tremor, Myoclonus, Spasticity, Ataxia OMIM:616494
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Abnormal pyramidal sign, Progressive spastic quadrip... ORPHA:309246
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Ataxia, Short stature, Myoclonus, Limb hypertonia, Rigidity, Tremor, EEG with... ORPHA:442835
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Motor stereotypy, Ataxia, Atonic seizure, Recurrent hand flapping, Tonic seiz... OMIM:300912
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizu... ORPHA:457351
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Bilateral tonic-clonic seizure with focal onset, Cerebral palsy, S... ORPHA:163681
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Sneddon Syndrome
Tremor, Hemiparesis, Chorea, Seizure ORPHA:820
Urocanase Deficiency
Tremor, Ataxia, Short stature OMIM:276880
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Seizure, Growth delay, Dystonia OMIM:619422
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Postnatal growth retardation, Speech apraxia, Seizure ORPHA:529965
Ring Chromosome 21 Syndrome
Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Generalized myoclonic sei... ORPHA:1445
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Dopa-Responsive Dystonia
Leg dystonia, Generalized tonic seizure, Poor coordination, Abnormality of extrapyramidal motor f... ORPHA:255
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity ORPHA:276435
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Short stature OMIM:618120
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Inherited Creutzfeldt-Jakob Disease
EEG with persistent abnormal rhythmic activity, Progressive extrapyramidal muscular rigidity, Clu... ORPHA:282166
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... ORPHA:363400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Cerebral palsy, Athetosis, Spastic paraplegia, Bilateral tonic-... ORPHA:369929
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Spasticity,... OMIM:619076
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic quadriplegia, Progressive extrapyramidal movement disorder, Progressive spast... ORPHA:329308
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Generalized-onset seizure, Eating-ind... ORPHA:544254
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypertonia, Intrauterine growth retardation, Atonic seizure, Generalized myoclonic seizure, Short... ORPHA:79351
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Tremor, Choreoathetosis, Spasticity, Seizure, Gr... ORPHA:765
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Ataxia, Atonic seizure, EEG abnormality, Recurrent ... ORPHA:72
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Limb hypertonia, Babinski sign, Bilateral tonic-clonic seizure, Clonus, Spastic te... ORPHA:423479
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Bilateral Polymicrogyria
Pseudobulbar paralysis, Cerebellar ataxia associated with quadrupedal gait, Generalized myoclonic... ORPHA:268940
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Seizure, Oculomotor apraxia, Eyelid myoc... OMIM:618060
Leukoencephalopathy With Ataxia
Optic neuropathy, Gait ataxia, Abnormal chorioretinal morphology, Limb ataxia OMIM:615651
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Growth d... OMIM:619738
X-Linked Non-Syndromic Intellectual Disability
Babinski sign, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Hypertonia, EEG abnormality, Opisthotonus, Respiratory p... ORPHA:79139
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Pelger-Huet Anomaly
Mild short stature, Bilateral tonic-clonic seizure, Lower limb hypertonia, Seizure OMIM:169400
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... ORPHA:225147
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertonia, Generalized myoclonic seizure, Limb hypertonia, Bilateral tonic-clonic seizure, Gener... OMIM:615501
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Short stature, Chorea, Athetosis, Bilateral tonic-clonic seizure, Focal... OMIM:619435
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Trisomy X
Tremor, Seizure ORPHA:3375
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Spastic diplegia, Tremor, Seizure, Postnatal growth retardation, Dystonia ORPHA:480907
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Seizure OMIM:311510
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Short stature, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Spas... ORPHA:364028
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling... OMIM:612953
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Jaberi-Elahi Syndrome
Dysmetria, Appendicular spasticity, Tremor, Choreoathetosis, Bilateral tonic-clonic seizure, Gait... OMIM:617988
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, EEG with photoparoxysmal response, Motor stereotypy, Tonic seizure, Myoc... OMIM:619777
Classic Phenylketonuria
Hemiplegia, Hypertonia, Tremor, Paraplegia, Seizure, Growth delay ORPHA:79254
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Seizure ORPHA:29822
Epilepsy, Progressive Myoclonic, 10
Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Spas... OMIM:616640
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Intention tremor, Abnormal pyramidal sign, Progressive spastic quadriplegi... OMIM:312080
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Upper motor neuron dysfunction, Generalized myoclonic seizure, Spastic paraparesis, Hemip... ORPHA:395
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Generalized tonic seizure, Progressive spasticity, Febrile s... ORPHA:496641
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Athetosis OMIM:615474
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Growth delay, Ataxia, Cataplexy, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clon... OMIM:617193
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Seizure, ... OMIM:617710
Sialidosis Type 2