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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

12 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
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... 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
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... 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
Bilateral Frontal Polymicrogyria
Seizure, EEG abnormality ORPHA:208444
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Angelman syndrome (Type 1)
Seizure, EEG abnormality DECIPHER:4
Angelman syndrome (Type 2)
Seizure, EEG abnormality DECIPHER:54
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Phosphoserine Phosphatase Deficiency
Seizure, Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Spastic Ataxia With Congenital Miosis
Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) s... OMIM:609446
Continuous Spikes And Waves During Sleep
Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:725
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Short stature, Continuous spike and waves during slow sleep, Foca... OMIM:245570
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Speech apraxia, Seizure, Bilateral tonic-clonic sei... ORPHA:163721
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Tremor, Ataxia, EEG abnorm... OMIM:617836
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality OMIM:617643
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure OMIM:616341
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave complexes, ... OMIM:254800
Nodular Neuronal Heterotopia
Seizure, EEG abnormality ORPHA:2149
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... ORPHA:139426
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Spastic diplegia, Photosensitive tonic-clonic seizure OMIM:226800
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, EEG wit... ORPHA:79137
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... OMIM:104290
Mental Retardation, X-Linked 82
Seizure, EEG abnormality OMIM:300518
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Developmental And Epileptic Encephalopathy 56
Poor coordination, Seizure, Ataxia, Status epilepticus, Broad-based gait, Attention deficit hyper... OMIM:617665
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:607876
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Intellectual Developmental Disorder, Autosomal Recessive 6
Seizure, Tremor, Myoclonus, Involuntary movements OMIM:611092
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... ORPHA:98820
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... ORPHA:2382
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... ORPHA:86909
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... OMIM:618924
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Seizure, Tremor, Stereotypical hand wringing, Epileptic spasm OMIM:619561
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure ORPHA:86814
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... ORPHA:98818
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
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
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor, Focal-onset seizure, Prolonged somat... OMIM:608105
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure OMIM:608278
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Seizure, Ataxia, EEG abnormality, Generalized myoclonic seizure OMIM:614706
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor, Spasticity, Hemiplegia, Ab... OMIM:614561
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... ORPHA:3006
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality ORPHA:1361
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic ... ORPHA:53583
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Atonic seizure, Apraxia, Sp... OMIM:617810
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Retinal degeneration, Growth delay, Seizure, Ataxia, Spasticity, Li... OMIM:614322
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Hemiparesis, Seizure, Bil... ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus OMIM:208700
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slurred speech, A... OMIM:300423
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia OMIM:612736
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, Spastic tetraplegia, Tremor, EEG with burst suppr... OMIM:612164
Alpha-Methylacyl-Coa Racemase Deficiency
Seizure, Ataxia, Status epilepticus, Tremor, Spasticity OMIM:614307
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spasticity, Spastic pa... ORPHA:100988
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Multifocal epileptiform discharges, S... OMIM:609056
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, EEG with polyspike wave complexes, ... ORPHA:308
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Ataxia, Spastic diplegia OMIM:619065
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Epilepsy, Progressive Myoclonic, 11
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Seizure, Ataxia OMIM:618876
Developmental And Epileptic Encephalopathy 43
Seizure, Hyperactivity, Ataxia OMIM:617113
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... ORPHA:289266
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... OMIM:619157
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Convulsive status epilepticus, Stereotypical hand wringing, EEG abnormality, Focal-onset ... OMIM:618760
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Familial Infantile Myoclonic Epilepsy
Clumsiness, EEG with focal spike waves, Limb myoclonus, Bilateral tonic-clonic seizure, Blepharos... ORPHA:352582
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Bilateral tonic-clonic seizure OMIM:616281
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Tremor, Status epilept... ORPHA:330050
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Alternating Hemiplegia Of Childhood 2
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Seizure, Status epilepticu... OMIM:614820
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Developmental And Epileptic Encephalopathy 90
Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:301058
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Generalized non-motor (absence) seizure OMIM:614018
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Brain Small Vessel Disease 2
Growth delay, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hemiplegia, Focal-onset seizure OMIM:614483
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Stereotypy, Seizure, Ataxia, Tremor OMIM:617862
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Paroxys... ORPHA:208447
Lichtenstein-Knorr Syndrome
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure... ORPHA:208441
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Migraine, Familial Hemiplegic, 1
Hemiparesis, Seizure, Tremor, Ataxia, Hemiplegia OMIM:141500
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Chorea, Focal emotional s... ORPHA:178469
Spinocerebellar Ataxia 48
Babinski sign, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, G... OMIM:618093
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Chorea, ... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor OMIM:615362
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Seizure, Tremor, Status epilepticus, Oculomotor apraxi... ORPHA:529665
Rasmussen Subacute Encephalitis
Involuntary movements, Increased theta frequency activity in EEG, EEG with focal epileptiform dis... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Seizure, Tremor, Spasticity, Parkinsonism OMIM:615528
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Tremor, Ataxia, Spa... ORPHA:79262
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generali... OMIM:615744
Pontocerebellar Hypoplasia, Type 14
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... OMIM:619301
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Ataxia, Status epilepticus, Hyperkinetic movements, EEG ... OMIM:271980
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure OMIM:616421
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, EEG with occipital... OMIM:619428
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ata... ORPHA:313772
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Growth delay, Bilateral tonic-clonic seizure, Seizure, EEG with ... ORPHA:488635
Rare Non-Syndromic Intellectual Disability
Seizure, Spasticity, Bilateral tonic-clonic seizure ORPHA:101685
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Foxg1 Syndrome
Severe postnatal growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Choreoathe... ORPHA:561854
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Focal-onset sei... OMIM:618770
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic hemiparesis, Spastic... OMIM:619616
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Spa... OMIM:619338
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Focal tonic seizure, Myoclonus, Hemihypsarrhythmia, Fo... ORPHA:99802
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Ataxia, Short stature OMIM:616113
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... OMIM:619302
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia,... OMIM:614487
Lissencephaly, X-Linked, 1
Seizure, Ataxia, Postnatal growth retardation, Spasticity OMIM:300067
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Bilateral tonic-clonic seizure, EEG with series of focal spikes, Focal t... ORPHA:168491
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Seizure, Tremor, Spastic paraplegia OMIM:600363
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Seizure, Limb ataxia, Gait ataxia ORPHA:404499
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, Ste... ORPHA:275864
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Seizure, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Abnormal nervous system electrophysiology... OMIM:256731
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Myoclonus, Abnormal nervous system electrophysiology OMIM:204500
Glutathionuria
Tremor OMIM:231950
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Dysmetria, Seizure, Tremor, Generalized myoclonic seizure OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Severe Canavan Disease
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Spasticity ORPHA:314911
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extrapyramidal muscular... ORPHA:93952
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia OMIM:618730
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign OMIM:612016
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Cho... ORPHA:485350
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Myoclonus, Seizure, Tremor, Hypertonia OMIM:261630
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... OMIM:610539
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure,... ORPHA:98784
Dk1-Cdg
Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Hypsarrhythmia, EEG with general... ORPHA:91131
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Seizure, Oculomotor apraxia, Inability to walk, Ataxia, Unsteady gait OMIM:618273
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Infantile Convulsions And Choreoathetosis
Athetosis, Involuntary movements, Experiential epileptic aura, Normal interictal EEG, Choreoathet... ORPHA:31709
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Seizure, Ataxia, Tremor, Incoordination, Abnormal pyramidal sign OMIM:614947
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Short stature, Lower limb spasticity, Seizure, Generalized myoclo... ORPHA:464282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Seizure, Tremor, Generalized-onset seizure, Tongue fas... OMIM:159950
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Choreoathetosis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Spasticity OMIM:612716
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Limb hypertonia, Growth delay, Bilateral tonic-clonic seizure, EEG with generalized epileptiform ... ORPHA:488613
Hereditary Continuous Muscle Fiber Activity
Seizure, Ataxia, Spastic gait, Slurred speech ORPHA:972
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia, Bilateral tonic-clonic seizure with ... OMIM:619028
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Tremor OMIM:618951
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, EEG with generalized slow activity, Seizure... ORPHA:228360
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal... ORPHA:457205
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue thrusting, Seizure... ORPHA:98795
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) OMIM:618412
Developmental And Epileptic Encephalopathy 47
Gait disturbance, Optic disc pallor, Hypsarrhythmia, Seizure, Multifocal epileptiform discharges,... OMIM:617166
Developmental And Epileptic Encephalopathy 42
Athetosis, Seizure, Ataxia, Hypertonia, Tremor, EEG abnormality OMIM:617106
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Seizure, Tremor, Ataxia, Generalized-... ORPHA:79263
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, EEG with generalized epileptiform dis... ORPHA:1947
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations OMIM:618170
Leukodystrophy, Hypomyelinating, 6
Rigidity, Choreoathetosis, Short stature, Seizure, Tremor, Ataxia, Spasticity OMIM:612438
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Growth delay, Dysmetria, Focal impaired awareness seizure, Hemiparesis, Seizure, Postna... OMIM:251950
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... ORPHA:363654
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Short stature, Stereotypy, Seizure, Tremor... ORPHA:457240
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Growth delay, Infantile spasms, Tongue thrusting, Seizure,... ORPHA:3095
Cystathioninuria
Seizure, Tremor ORPHA:212
Neurodegeneration With Brain Iron Accumulation 5
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Seizure, Tremor, Parkinsoni... OMIM:300894
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Hsd10 Disease
Rigidity, Choreoathetosis, Myoclonus, Seizure, Tremor, Ataxia, Postnatal growth retardation, Spas... ORPHA:391417
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Cataract-Ataxia-Deafness Syndrome
Short stature, Decreased nerve conduction velocity, Tremor, Ataxia, Hypertonia ORPHA:1368
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Short stature, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absenc... OMIM:300558
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Bradykinesia, Seizure, Tremor, Hypertonia, Ataxia, Parkinsonism OMIM:261640
Lafora Disease
Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonus, Focal impaired ... ORPHA:501
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coordination, Stereotypy... ORPHA:79264
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Seizure, Postnatal growth retardation, Intrauterine growth retardation, Spasticity OMIM:617093
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dysmetria, Seizure, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, G... OMIM:614831
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Truncal ataxia, Bilateral tonic-clonic seizure ORPHA:369840
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Rigidity, Decreased sensory nerve conduction velocity,... OMIM:603472
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Generalized-onset seizure, Action tremor, Gait ataxia OMIM:254900
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations ORPHA:65684
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Optic neuropathy, Dyssynergia, Choreoathetosis, D... ORPHA:101
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Seizure, Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign ORPHA:139485
Neuroectodermal Melanolysosomal Disease
Rigidity, Seizure, Ataxia, Hypertonia, Tremor, Spasticity ORPHA:33445
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Mental Retardation, X-Linked, Syndromic 12
Seizure, Postnatal growth retardation OMIM:309545
Developmental And Epileptic Encephalopathy 24
Ataxia, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615871
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Crigler-Najjar Syndrome Type 1
Seizure, Tremor ORPHA:79234
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Intellectual Developmental Disorder, X-Linked 104
Seizure, Ataxia, Spasticity, Tremor OMIM:300983
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Gait ataxia... ORPHA:397946
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Focal EEG discharges with secondary generalization, Lower limb spasticity, Seizure... ORPHA:3077
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Seizure, Resting tremor, Parkinsonism, Gait ataxia ORPHA:71517
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia... ORPHA:79243
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Rigidity, Bilateral tonic-clonic seizure, Spastic ataxia, Hemiparesis, Sp... ORPHA:199354
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Seizure, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign OMIM:617435
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Tremor, Sp... ORPHA:477673
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Bilateral tonic-clonic seizure, Tonic seizure, Choreoathetosis, My... OMIM:619580
Beta-Propeller Protein-Associated Neurodegeneration
Rigidity, Bradykinesia, Seizure, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seizure, EEG wit... ORPHA:544503
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Aprax... OMIM:254780
Infantile Cerebellar-Retinal Degeneration
Athetosis, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Seizure, Tremor, EEG abnormality, Spasticity OMIM:618718
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Saccharopinuria
Short stature, Seizure, Tremor, Spastic diplegia, Gait ataxia ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Growth delay, Spasticity OMIM:278780
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Spinocerebellar Ataxia Type 10
Babinski sign, Kinetic tremor, Dysmetria, EEG with generalized epileptiform discharges, Focal imp... ORPHA:98761
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Babinski sign, Clonus, Bilateral tonic-clonic seizure, Infantile spasms, F... ORPHA:480864
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Lower limb spasticity, Hypsarrhy... OMIM:300912
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Febrile seizure (within the age range... ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Seizure, Tremor, Hyperkinetic movements OMIM:233910
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Seizure, Tremor, Hypertonia,... OMIM:618877
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Interictal epileptiform activity, EEG with generalized epileptiform discharges, L... ORPHA:163681
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Short stature, EEG with multifocal slow activit... ORPHA:442835
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Growth delay, Rigidity, Cerebral palsy, Bradykinesia, Seizure, Tremor ORPHA:70594
Atypical Juvenile Parkinsonism
Involuntary movements, Rigidity, Myoclonus, Bradykinesia, Seizure, Resting tremor, Abnormal pyram... ORPHA:391411
Ring Chromosome 21 Syndrome
Short stature, Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, S... ORPHA:1445
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Choreoathetosis, Spastic gait, Bradykinesia, Spastic tetraplegia, EEG with general... OMIM:300055
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Limb hypertonia, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:457351
4H Leukodystrophy
Short stature, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, ... ORPHA:289494
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Urocanase Deficiency
Tremor, Ataxia, Short stature OMIM:276880
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Bilateral tonic-clonic seizure, Cerebral palsy, Focal impaired awareness seizure, Seiz... ORPHA:369929
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Hypertonia, Focal-onset... OMIM:619091
Molybdenum Cofactor Deficiency, Complementation Group C
Opisthotonus, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Generalized-onset seizure OMIM:615501
Sneddon Syndrome
Seizure, Chorea, Hemiparesis, Tremor ORPHA:820
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... ORPHA:216873
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve conduction velo... OMIM:609260
3-Methylglutaconic Aciduria, Type Viii
Seizure, Hypertonia, Growth delay, Tremor OMIM:617248
Bilateral Polymicrogyria
Infantile spasms, Bilateral tonic-clonic seizure, Cerebellar ataxia associated with quadrupedal g... ORPHA:268940
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Clonus, Limb hypertonia, Intrauterine growth retardation, Bilateral tonic-clonic s... ORPHA:423479
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Seizure, Tremor, Hype... OMIM:606693
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Myoclonic seizure, Hypsarrhythmia, Seizure, Hypertonia, Bilateral tonic-clonic seizure with gener... OMIM:619076
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Fasciculations, Tongue fasciculations ORPHA:276435
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:600116
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Short stature, Focal ... ORPHA:79351
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Familial Dyskinesia And Facial Myokymia
Chorea, Resting tremor, Myoclonus, Limb hypertonia ORPHA:324588
Gm2 Gangliosidosis, Ab Variant
Short stature, Chorea, Exaggerated startle response, Seizure, Postnatal growth retardation, Progr... ORPHA:309246
Angelman Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Tongue thrusting, Seizure, Tremor, S... ORPHA:72
Sneddon Syndrome
Seizure, Hemiplegia, Tremor OMIM:182410
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Postnatal growth retardation, Speech apraxia, Stereotypy ORPHA:529965
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Pelger-Huet Anomaly
Seizure, Mild short stature, Lower limb hypertonia, Bilateral tonic-clonic seizure OMIM:169400
Pelizaeus-Merzbacher Disease
Head titubation, Short stature, Choreoathetosis, Seizure, Tremor, Ataxia, Progressive spastic qua... OMIM:312080
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
X-Linked Non-Syndromic Intellectual Disability
Seizure, Babinski sign, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Eating-induced seizure, Tremor, Ataxia, Generalized-onset seizure, Recurrent h... ORPHA:544254
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
Nipah Virus Disease
Seizure, Myoclonus, Tremor ORPHA:99825
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Japanese Encephalitis
Paralysis, Decreased motor nerve conduction velocity, Opisthotonus, Weakness due to upper motor n... ORPHA:79139
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Seizure, Status epilepti... ORPHA:364028
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Stereotypy OMIM:616351
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... OMIM:619059
Waisman Syndrome
Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Parkinsonism OMIM:311510
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 31
Growth delay, Choreoathetosis, Seizure, Tremor, Ataxia OMIM:619422
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Seizure, Tremor, Status epilepticus, Ataxia, Tetraparesis, Sp... ORPHA:363400
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Eyelid myoclonus, Tremor, Oculomotor apraxia, Incoordination, Ataxia, Abnormal pyramidal... OMIM:618060
Leukoencephalopathy With Ataxia
Optic neuropathy, Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia OMIM:615651
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Lower limb spasticity, Hemiparesis, Seizure, Ataxia, Upper motor ... ORPHA:395
Trisomy X
Seizure, Tremor ORPHA:3375
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Seizure, Tongue fasciculations, Abnormal pyramidal sign... ORPHA:99
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Progressive gait at... ORPHA:329308
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Upper limb spasticity, Bilateral tonic-clonic seizure, Cataplexy, Growth delay, Lower limb spasti... OMIM:617193
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Seizure, Tremor, ... ORPHA:765
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Spastic tetraplegia, Cerebral palsy, Bilateral tonic-clonic seizure OMIM:615474
Spontaneous Periodic Hypothermia
Seizure, Ataxia, Tremor ORPHA:29822
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Classic Phenylketonuria
Growth delay, Paraplegia, Seizure, Tremor, Hypertonia, Hemiplegia ORPHA:79254
Epilepsy, Progressive Myoclonic, 10
Myoclonus, Spastic tetraplegia, Spastic ataxia, Seizure, Ataxia, Progressive cerebellar ataxia, S... OMIM:616640
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure ORPHA:99742
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Febrile seizure (within the age range of 3 months to 6 years), Growth del... ORPHA:496641
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked potentials, Motor ... ORPHA:206594
Sialidosis Type 2
Seizure, Ataxia, Short stature, Tremor ORPHA:87876
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... ORPHA:53351
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure ORPHA:453510
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Tremor, Tetraplegia, Spastici... OMIM:616586
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure, Exaggerated startle response, Fasciculations, ... OMIM:268800
Ritscher-Schinzel Syndrome 4
Athetosis, Bilateral tonic-clonic seizure, Short stature, Chorea, Stereotypy, Ataxia, Focal-onset... OMIM:619435
Pontocerebellar Hypoplasia Type 2
Babinski sign, Infantile spasms, Choreoathetosis, Upper limb hypertonia, Seizure, Bilateral tonic... ORPHA:2524
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Chorea, Bradykinesia, Seizure, Atypical absence status epilepticus, Resting tremor... ORPHA:225147
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Seizure, Spastic diplegia, Postnatal growth retardation, Tremor ORPHA:480907
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... ORPHA:42
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Seizure, Tremor, Hypertonia, S... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Short stature, Dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia OMIM:610185
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Choreoathetosis, Rigidity, Paroxysmal dyskinesia, Chorea, Focal m... ORPHA:2131
Leber Optic Atrophy
Leber optic atrophy, Optic atrophy, Optic neuropathy, Dystonia, Postural tremor, Ataxia, Central ... OMIM:535000
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Abnormal nerve conduction velocity, Paraparesis ORPHA:99014
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Photosensitive myoclonic seizure, Hypertonia, Short stature ORPHA:1192
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... ORPHA:1170
Sialidosis Type 1
Short stature, Myoclonus, Decreased nerve conduction velocity, Seizure, Ataxia, Tremor, Slurred s... ORPHA:812
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Seizure, Decreased nerve conduction velocity, Tremor ORPHA:397744
Ddost-Cdg
Seizure, Oromotor apraxia, Short stature, Tremor ORPHA:300536
Pontocerebellar Hypoplasia, Type 2E
Opisthotonus, Infantile spasms, Tonic seizure, Short stature, Myoclonic seizure, Myoclonus, Spast... OMIM:615851
Jaberi-Elahi Syndrome
Choreoathetosis, Dysmetria, Seizure, Tremor, Spasticity, Gait ataxia OMIM:617988
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Gait ataxia, Tremor OMIM:618387
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations ORPHA:90117
Ataxia-Telangiectasia
Short stature, Seizure, Ataxia, Tremor, Spasticity, Delayed puberty ORPHA:100
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... OMIM:213600
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Gait disturbance, Optic neuropathy, Optic disc pallor,... ORPHA:101076
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Ataxia, Hypertonia, Tremor OMIM:619556
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogwheel rigid... OMIM:607483
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Oculomotor apraxia, Ataxia, EEG... ORPHA:247262
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Bilateral tonic-clonic seizure, Short stature, Stereotypy, Hypertonia, Spasticity,... OMIM:615802
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Limb trem... OMIM:218000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure, Lower limb spasticity... ORPHA:447997
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Spastic tetraparesis, Bilateral tonic-clonic seizure OMIM:608809
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Tremor ORPHA:276608
Myopathy With Extrapyramidal Signs
Clumsiness, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapy... OMIM:615673
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Stereotypy, Ataxia, Generalized myoclonic seizure, Generalized no... ORPHA:435638
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... OMIM:617145
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... OMIM:615157
Kohlschutter-Tonz Syndrome-Like
Stereotypy, Seizure, Focal-onset seizure, Generalized tonic seizure, Intrauterine growth retardat... OMIM:619229
Dopa-Responsive Dystonia
Rigidity, Poor coordination, Abnormality of extrapyramidal motor function, Seizure, Tremor, Slurr... ORPHA:255
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Limb hypertonia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Spasticity, Focal myoclonic sei... ORPHA:481152
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617050
Riboflavin Transporter Deficiency
Seizure, Ataxia, Myoclonus, Tremor ORPHA:97229
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Truncal titubation, Seizure, Tremor, Hypertonia, Gait ataxia OMIM:618056
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus, Growth delay, Short stature OMIM:616716
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Babinski sign, Frequent falls, Dysmetria, Hand tremor,...