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Gene: Gabrg2 MGI:95623

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Gene Summary

Name:
gamma-aminobutyric acid type A receptor, subunit gamma 2
Synonyms:
GABAA-R,  Gabrg-2,  gamma2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Gabrg2em1(IMPC)Mbp HOM   Early adult 0.00
decreased bone mineral density Gabrg2em1(IMPC)Mbp HET Early adult 1.87×10-05
decreased bone mineral content Gabrg2em1(IMPC)Mbp HET   Early adult 9.37×10-05
abnormal skin morphology Gabrg2em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Gabrg2em1(IMPC)Mbp HET   Early adult 2.50×10-05
enlarged testis Gabrg2em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Gabrg2em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Gabrg2em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Gabrg2em1(IMPC)Mbp HET Early adult 2.80×10-09
decreased heart weight Gabrg2em1(IMPC)Mbp HET Early adult 8.97×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

49 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

2 Images

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Human diseases caused by Gabrg2 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 predicted to be associated to Gabrg2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizur... OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... OMIM:615369
Continuous Spikes And Waves During Sleep
Focal-onset seizure, Focal motor seizure, Atypical absence seizure, Atonic seizure, Clumsiness, E... ORPHA:725
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Infantile spasms, Impulsivity, Bilateral tonic-clonic seizure, Aty... OMIM:617113
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo... OMIM:613608
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Developmental And Epileptic Encephalopathy 56
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, EEG with polyspike wave comp... OMIM:617665
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Tremor, Bilateral tonic-... OMIM:615127
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bi... OMIM:616056
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Unilateral Focal Polymicrogyria
Simple febrile seizure, Spastic hemiparesis, EEG with parietal focal spikes, Abnormality of somat... ORPHA:268947
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, EEG wi... OMIM:614018
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Hyperactivity, EEG with focal sharp sl... ORPHA:2382
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Incoordination, Seizure, Bilateral toni... OMIM:616409
Infantile Convulsions And Choreoathetosis
Paroxysmal dyskinesia, Focal-onset seizure, Normal interictal EEG, Experiential epileptic aura, C... ORPHA:31709
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Febrile seizure (within t... OMIM:615744
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Truncal ataxia, Absence seizure... OMIM:618587
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure wi... OMIM:609446
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Spasticity, Bilateral tonic-clonic seizure, ... OMIM:617350
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Generalized Epilepsy With Febrile Seizures-Plus
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, Generalized myoclonic seizur... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalize... OMIM:616187
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Infantile Spasms Syndrome
Hypsarrhythmia, Infantile spasms, Myoclonus ORPHA:3451
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:615006
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Impulsivity, Action tremor, At... ORPHA:33069
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensor... OMIM:615400
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Involuntary movements, Motor stereotypy, Status epilep... OMIM:617171
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Attention deficit hyper... OMIM:619639
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, EEG with centrotemporal focal spike waves, Seizure, Bilateral tonic-clonic s... OMIM:245570
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Bilateral tonic-clo... ORPHA:1945
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic seizure, Focal E... ORPHA:263516
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal EEG discharges with secondar... ORPHA:1949
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, EEG with polyspike wave complexes, Intention tremor, Morning myoclonic jerks, Ataxia... ORPHA:308
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Loss of ambulation, Ataxia, Myoclonus, EEG abnormality OMIM:600143
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, EEG abnormality, Hand tremor ORPHA:86814
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, EEG with abnormally slow frequ... ORPHA:599373
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Attention deficit hy... OMIM:617935
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Restlessness, Clumsiness, EEG abnormality, Focal impaired awarene... OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Paroxysmal dyskinesia, Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure, Mu... OMIM:618596
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Inability to walk, Seizure, Gener... OMIM:617188
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, H... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:162350
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Chorea, Generalized-onset seizure... ORPHA:79137
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Bilateral tonic-clonic seizure, Action myoc... OMIM:616230
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Se... ORPHA:98811
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperact... OMIM:619191
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Tonic seizure, Atypical ... OMIM:617771
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:617904
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical h... OMIM:618917
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Myoclonic absence seizure, Increased theta frequency activity ... OMIM:619000
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Spasticity, Tonic seizure, Bilateral tonic-... OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Focal motor s... ORPHA:1935
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Motor ste... OMIM:616341
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, ... OMIM:620145
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Compulsive behaviors, Myoclonus, Limb myoclonus ORPHA:36899
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Bilatera... OMIM:617810
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Inability to walk, Hypsarrhythmia, Seizure, Tonic seizure, Myoclonic seizure, Sp... OMIM:617929
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Myoclonus OMIM:102300
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Fre... OMIM:616540
Centralopathic Epilepsy
EEG with centrotemporal focal spike waves, Focal-onset seizure, Nocturnal seizures, Bilateral ton... OMIM:117100
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Seizure, Ataxia, Myoclonus OMIM:204500
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, EEG with multifocal slow activity, Bilateral to... ORPHA:289266
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Chorea, Seizure, Athetosis, Abnormality of extrapyr... ORPHA:382
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Dystonia 11, Myoclonic
Torticollis, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Hypsarrhythmia, Myoclonus, Spastic tetraplegia, Status... OMIM:618285
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Seizure, Spasticity, Ataxia, Myoclonus, EEG abnormality OMIM:617829
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:612621
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Chorea, Seizure, Infantile spasms, Spasticity, Bilateral tonic-c... OMIM:616139
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Spinocerebellar Ataxia 20
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Generalized non-motor (absence) seizure, Generalized-on... ORPHA:35878
Obsessive-Compulsive Disorder
Depression, Skin-picking, Collectionism, Compulsive behaviors OMIM:164230
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia ORPHA:2589
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, EEG with focal sharp waves, Bilateral tonic-clonic seizure with foc... ORPHA:163721
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Ataxia OMIM:620379
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:512260
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Hypsarrhythmia, Infantile spasms, Spastic tetraparesis, G... OMIM:618012
Developmental And Epileptic Encephalopathy 91
Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Seizure, Focal motor seizure... OMIM:617711
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Hy... ORPHA:485350
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617389
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Interictal epileptiform activity, Seizure, Focal tonic seizure, Limb tremor, Myoclonu... OMIM:300699
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Multifocal seizures, Spasticity, Gait disturbance, Bilateral toni... OMIM:616981
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Focal sensory seizure, Infantile spasms, Generalized-... OMIM:602066
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure... OMIM:266100
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus OMIM:545000
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
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dysphagia, Clumsiness, St... OMIM:620448
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Focal tonic seizure, Tremor, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkins... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 70
Attention deficit hyperactivity disorder, Severe temper tantrums, Seizure, Febrile seizure (withi... OMIM:618402
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Spastic Paraplegia 86, Autosomal Recessive
Babinski sign, Inability to walk, Spastic paraplegia, Febrile seizure (within the age range of 3 ... OMIM:619735
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Spasticity, Bilateral tonic-clonic seizure, Ga... OMIM:614322
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Tremor, Spasticity, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Seizure, Tremor, Spastic paraplegia, Febrile... ORPHA:477673
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Limb myoclonus, Bilateral tonic-clonic seizur... ORPHA:64280
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Inability to walk, Hyperactivity, Seizure, Generalized-onset seizure, Spasticity, ... OMIM:616657
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait OMIM:616921
Glut1 Deficiency Syndrome 1
Babinski sign, Seizure, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG abnormality, C... OMIM:606777
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon... OMIM:611726
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Seizure, Tremor, Spasticity, Ataxia, Abnormal pyram... ORPHA:79262
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait a... OMIM:618090
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300425
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic s... ORPHA:140927
Pyridoxine-Dependent Epilepsy
Multifocal epileptiform discharges, Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure... ORPHA:3006
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Dysdiadochokinesis, Seizure, Limb tremor, Loss of ambu... OMIM:256731
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure OMIM:104290
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Frequent ... OMIM:301020
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, EEG abnormality ORPHA:436151
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Spasticity, Bilateral tonic-clonic ... ORPHA:208441
Spermatogenic Failure 17
Male infertility OMIM:617214
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Attention deficit hyperactivity d... OMIM:619971
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy OMIM:613886
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Impulsivity... OMIM:619028
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Spasticity, Frequent falls, Gait ata... OMIM:607317
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Parkinsonism with favorable response to dopaminergi... OMIM:605407
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Glycine Encephalopathy 1
Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Dysphagia,... OMIM:619565
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis OMIM:617065
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Inability to walk, Chorea, Seizure, Spasticity, Stereoty... OMIM:614254
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Clumsiness, Hemiplegia, Difficulty walking, Decreased nerve conduction veloc... ORPHA:206443
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:309530
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Cerebral... OMIM:617600
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor, Febrile seizure ... OMIM:620208
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Myoclonus, Stereotypical han... OMIM:618497
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Infantile spasms, Tonic seizure, Unsteady gait, Focal impaired awareness seizure OMIM:617601
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Seizure, Generalized-onset seizure, Spastic tetraparesis, Impulsivity,... OMIM:604317
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Multifocal epileptiform discharges... OMIM:609056
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Myoclonus OMIM:619651
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, ... OMIM:619701
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Seizure, Spasticity, Bilateral tonic-clonic seizure,... OMIM:300423
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Seizure, Spasticity, EEG abnormality, Hemiparesis, Ataxia, Extrapyra... ORPHA:71277
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
New-Onset Refractory Status Epilepticus
Multifocal epileptiform discharges, EEG with spike-wave complexes, Seizure precipitated by febril... ORPHA:363558
Hemimegalencephaly
Epileptic spasm, EEG with polyspike wave complexes, EEG with focal spikes, Seizure, Focal motor s... ORPHA:99802
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Seizure, Gait disturbance, Disinhibition, Myoclonus, EEG abnormality OMIM:618193
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, EEG with irregular g... ORPHA:352596
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Chorea, Stereotypical hand wringing, Convulsive status ep... OMIM:618760
Dystonia 23
Head tremor, Torticollis, Gait disturbance, Myoclonus OMIM:614860
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se... ORPHA:101070
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Babinski sign, Difficulty walking, Spasticity, Ataxia OMIM:618242
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Stereotypical hand wringing, Bilate... OMIM:619854
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Poor motor coordination, Frequent fall... OMIM:500003
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Seizure, Generalized-onset seiz... OMIM:619827
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure, Aggressive behavior OMIM:247100
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Infantile spas... OMIM:619616
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia... OMIM:617862
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus OMIM:314250
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Fasciculations, Myoclonus OMIM:611721
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypertonia, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laug... ORPHA:293181
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Dysphagia, Myoclonus, Choreoathetosis OMIM:261630
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Seizur... ORPHA:330050
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, EEG with f... ORPHA:1929
L-Ferritin Deficiency
Restless legs, Generalized-onset seizure OMIM:615604
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Inability to walk, H... ORPHA:411986
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Infantile spasms, Athetosis, Spasticity, Bilateral tonic-clonic s... OMIM:617493
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Seizure, Generalized-onset seizure, Tremor, Spasticity, Poor fine motor coordination, Myo... ORPHA:79263
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Spasticity, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia OMIM:620317
Epilepsy, Hot Water, 1
Febrile seizure (within the age range of 3 months to 6 years) OMIM:613339
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc... OMIM:158580
Geniospasm 1
Chin myoclonus OMIM:190100
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within t... OMIM:618010
Abeta Amyloidosis, Arctic Type
Febrile seizure (within the age range of 3 months to 6 years) ORPHA:324723
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Bilateral tonic-clonic seizure, Gait disturbance, Spastic p... ORPHA:100988
Combined Oxidative Phosphorylation Deficiency 35
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG... OMIM:617873
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Bilateral tonic-clonic seizure, Intenti... OMIM:619725
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Hypsarrhythmia, Infantile spasms, Generalized-onset seizure, Myoclonic seizure, Spast... OMIM:618677
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Multifocal epileptiform discharges, Agitation, Focal-onset seizure, Inability to wal... OMIM:617166
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Tics, Febrile seizure (within the age range of 3 months to 6 years) OMIM:619264
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclon... OMIM:226750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Seizure, Unsteady gait, Myoclonus OMIM:610090
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Generalized-onset seizu... OMIM:159950
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Atypical Rett Syndrome
Gait ataxia, EEG abnormality, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Seizure,... ORPHA:3095
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor... ORPHA:53583
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Dysdiadochokinesis, Spasti... ORPHA:313772
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Hyperprolinemia, Type I
Hyperactivity, Seizure, Ataxia, Motor stereotypy, Status epilepticus, EEG abnormality, Aggressive... OMIM:239500
Hyperprolinemia Type 2
Seizure, Generalized-onset seizure, Early onset absence seizures, Atonic seizure, Unsteady gait, ... ORPHA:79101
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Macroorchidism OMIM:300706
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Seizure, Bilateral... OMIM:618170
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Seizure, Ga... ORPHA:248111
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Erratic myoclonus, Hypsarrhythmia... OMIM:308350
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hand tremor, Dysphagia, Ankle clonus ORPHA:280384
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Generalized tonic seizure OMIM:611603
3-Methylglutaconic Aciduria, Type I
Spasticity, Athetosis, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Spa... OMIM:250950
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Agitation, Hypertonia, Hyperkinetic movements, Falls, Abnormality of extrapyramidal... ORPHA:13
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Polyphagia, Focal impaired awareness seizure, Self-mutil... OMIM:616521
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Tremor... OMIM:612164
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Seizure, Stereotypical hand wringing, Gait disturbance, Febrile se... OMIM:614104
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus, Clonic ... OMIM:615338
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Bilateral toni... OMIM:614487
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Dysph... OMIM:607346
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Sp... OMIM:616211
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria OMIM:618384
Spastic Paraplegia 52, Autosomal Recessive
Babinski sign, Hypertonia, Focal-onset seizure, Spasticity, Cerebral palsy, Spastic paraplegia, F... OMIM:614067
Ring Chromosome 21 Syndrome
Generalized myoclonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure with genera... ORPHA:1445
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Seizure, Shuffling gait, Gait ataxia, ... ORPHA:391411
Foxg1 Syndrome
Difficulty walking, Focal-onset seizure, Inability to walk, Hyperkinetic movements, Infantile spa... ORPHA:561854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Myoclonus, Gait disturbance, Rigidity, Disinhibition, Moto... OMIM:600795
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Spasticity, Falls OMIM:619224
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ... OMIM:615859
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Seizure, Freezing of gait, Focal motor seizure, Bilateral... OMIM:619911
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Babinski sign, Progressive cerebellar ataxia, Clonus, Febrile seizure (within the age range of 3 ... OMIM:618868
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic ... OMIM:616281
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Seizure, Febrile seizure (within the age range of 3 months to ... OMIM:238700
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Babinski sign, Myoclonic status epilepticus, Inability to walk, Hypsarrhythmia, ... OMIM:617105
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Loss of am... OMIM:204200
Developmental And Epileptic Encephalopathy 90
Babinski sign, Focal-onset seizure, Limb hypertonia, Hypsarrhythmia, Bilateral tonic-clonic seizu... OMIM:301058
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure outside the age of 3 months to 6 years, Recurrent hand flapping, Fixated interest... OMIM:617788
Pontocerebellar Hypoplasia Type 2
Babinski sign, Simple febrile seizure, Generalized myoclonic seizure, Oral-pharyngeal dysphagia, ... ORPHA:2524
Dystonia 22, Juvenile-Onset
Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intention... OMIM:620453
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Apraxia, Broad-based gait, Chorea, Seizure, Gait ataxia, Intention tre... OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 1
Seizure, Spasticity, Ataxia, Myoclonus, EEG abnormality OMIM:256730
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Seizure, Spasticity, EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus,... OMIM:613970
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Spasticity, Seizure, Dysphagia, Myoclonus OMIM:225753
Congenital Disorder Of Glycosylation, Type In
Seizure, Ataxia, Spasticity, Myoclonus OMIM:612015
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Focal aware seizure, Generalized-onset seizure, Spasticity, Bilat... OMIM:610042
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Dysmetria, Myoclonus OMIM:618251
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Progressi... ORPHA:306511
Hartnup Disorder
Hypertonia, Hyperactivity, Seizure, Episodic ataxia, Attention deficit hyperactivity disorder, Ge... OMIM:234500
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Torticollis, Abnormal nerve conduction velocity, Gait ataxia, Dysphagi... OMIM:619862
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary mo... ORPHA:209370
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Gait disturbance... OMIM:254780
Thyrocerebrorenal Syndrome
Seizure, Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus ORPHA:3327
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria OMIM:203740
Huntington Disease
Chorea, Choking episodes, Rigidity, Myoclonus, Clumsiness, Aggressive behavior, Babinski sign, Ag... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Early Infantile Epileptic Encephalopathy
Focal-onset seizure, Hyperactivity, Atonic seizure, Myoclonus, EEG abnormality, Generalized non-m... ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Retinal dysplasia OMIM:615041
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Myoclonic absence seizure, Generalized-onset seizure, Recurrent hand ... ORPHA:544254
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activity, Seizure, ... ORPHA:442835
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Dysphagia, Pa... OMIM:618093
Hsd10 Disease
Seizure, Tremor, Gait disturbance, Rigidity, Ataxia, Dysphagia, Myoclonus, Spastic paraparesis, C... ORPHA:391417
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Cerebral palsy, Myoclonic seizure, Atonic seizure, Dysphagia, Myoclonus, Mot... OMIM:616973
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Babinski sign, Apraxia, Seizure, Spasticity, Gait disturbance, Disinhibit... OMIM:221770
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, G... OMIM:620166
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Chorea, Spasticity, Focal impaired awareness hemiclonic ... OMIM:620149
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Hyperekplexia 4
Hypertonia, Hypsarrhythmia, Seizure, Infantile spasms, Myoclonus OMIM:618011
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Myoclonus ORPHA:324588
Peho-Like Syndrome
Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Seizure, Spasticity, Cerebral palsy, Clonus, Febrile seizure (within t... OMIM:619847
Dystonia 28, Childhood-Onset
Tip-toe gait, Torticollis, Retrocollis, Spasticity, Tremor, Gait disturbance, Myoclonus OMIM:617284
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Spasticity, Compulsive behaviors, Cerebral palsy, Phonic tics, Unsteady g... OMIM:301107
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Seizure, Tremor, Spasticity, Bilateral tonic-clonic seizu... ORPHA:529665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Tremor, G... OMIM:619092
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epileptiform discha... ORPHA:254881
Congenital Disorder Of Glycosylation, Type Iic
Febrile seizure (within the age range of 3 months to 6 years), Compulsive behaviors OMIM:266265
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk OMIM:619561
Alexander Disease
Babinski sign, Seizure, Spasticity, Ataxia, Dysmetria, Palatal tremor OMIM:203450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi... OMIM:610539
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Oculomotor apraxia, Infantile s... ORPHA:467166
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619301
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Hypertonia, Bilateral tonic-clonic seizure, Motor tics OMIM:620688
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Thyrocerebroretinal Syndrome
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:274240
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Bi... ORPHA:93952
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Gait disturbance, Gait ataxia, Frequ... ORPHA:225154
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Bilateral tonic-clonic seizure OMIM:609924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Paroxysmal Kinesigenic Dyskinesia
Focal sensory seizure, Chorea, Seizure, Athetosis, Involuntary movements ORPHA:98809
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Seizure, Athetosis, Gait disturbance, Rigidity, Loss of ambulation, Myoclonus OMIM:618241
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... OMIM:618770
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Seizure, Generalized-onset seizure, Spasticity, Febrile status epilepticus, Tonic seizure, Febril... OMIM:612949
Alzheimer Disease 3
Babinski sign, Optic ataxia, Apraxia, Abnormality of extrapyramidal motor function, Seizure, Spas... OMIM:607822
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619302
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Familial Or Sporadic Hemiplegic Migraine
Alien limb phenomenon, Focal sensory seizure, Tongue fasciculations, Focal motor seizure, EEG wit... ORPHA:569
Severe Canavan Disease
Babinski sign, Inability to walk, Oral-pharyngeal dysphagia, Decerebrate rigidity, Seizure, Spast... ORPHA:314911
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Impaired oral bolus formation, Dysphagia, Myoclonus, Clonic seizure OMIM:617235
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Truncal ataxia, Tongue fasciculat... ORPHA:276198
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Ataxia, Spasticity, Myoclonus OMIM:620094
Abeta Amyloidosis, Iowa Type
Dysphagia, Gait disturbance, Myoclonus ORPHA:324708
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Seizure, Parkinsonism with favora... OMIM:606693
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,... OMIM:606703
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, EEG with focal spikes, Seizure, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Seizure, Inte... OMIM:618356
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early childhood, Progre... ORPHA:401866
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... OMIM:309548
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy, Short stature DECIPHER:8
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Posttransplant Acute Limbic Encephalitis
Seizure, EEG with focal epileptiform discharges, Ataxia, Myoclonus, EEG with abnormally slow freq... ORPHA:163921
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Slurred speech, Gait distu... ORPHA:1349
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... ORPHA:100973
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Abnormal peripheral action potential ampl... ORPHA:457205
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Inability to walk, Hypsarrhythmia, Infantile spasms, Dysphagia OMIM:618374
Nipah Virus Disease
Anorexia, Seizure, Tremor, Myoclonus ORPHA:99825
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, Dysmetria OMIM:615031
Brain Small Vessel Disease 2
Spastic tetraplegia, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 61
Seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Loss of ambulation, Focal c... OMIM:617933
Fragile X Syndrome
Joint hypermobility, Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism OMIM:300624
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking OMIM:615048
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Seizure, Spasticity, Gait disturbance, Rigidity, Ataxia, Myoclonus ORPHA:3197
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mo... ORPHA:42
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Aggressive behavior OMIM:620270
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention ... OMIM:301069
Partington Syndrome
Macroorchidism ORPHA:94083
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, EEG with spike-wave complexes, Hypsarrhythmia, Seizure, Focal moto... ORPHA:95232
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Satb2-Associated Syndrome Due To A Pathogenic Variant
Attention deficit hyperactivity disorder, Typical absence seizure, Seizure, Dysphagia ORPHA:576283
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Spasticity, Myoclonic seizure, Ataxia, Myoclonus OMIM:618225
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... ORPHA:97355
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Hypertonia, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, M... OMIM:619877
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Gait disturbance, Abnormal sens... ORPHA:276435
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Seizure, Tremor, Spasticity, Poor motor coordination, Gait ataxia, Ataxia, Myoclon... ORPHA:363400
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Lower limb spasticity, Hy... OMIM:300912
Alexander Disease Type I
Seizure, Spasticity, Ataxia, Dysphagia, Abnormal pyramidal sign, Palatal tremor ORPHA:363717
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Lower limb spasticity... ORPHA:464282
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Limb h... ORPHA:457351
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity, Gait disturbance ORPHA:101075
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Chorea, Seizure, Abnormality of extrapyramidal... ORPHA:500180
Mitochondrial Dna Depletion Syndrome 19
Focal-onset seizure, Infantile spasms, Spasticity, Myoclonus, Multifocal epileptiform discharges,... OMIM:618972
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:604218
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok... ORPHA:98761
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus, Ataxia OMIM:618729
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure OMIM:614559
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Seizure, Tremor, Spas... OMIM:618877
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Lower limb spasticity, Broad-based gait, Oromotor apraxia, Clums... OMIM:617854
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Hypertonia, Oculomotor apraxia, Apraxia, Seizure, Ataxia, Disinhibition, Parkinsonism,... ORPHA:1020
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, EEG abnormality, Rigidity, Myoclonus OMIM:300673
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Sarcosinemia
Tetraparesis, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Hypsarrhythmia, Seizure, Tremor, Generalized-onset seizure, Dysphagia OMIM:617162
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Seizure, Tremor, Spasticity, Motor stereotypy, Self-injurious b... OMIM:618718
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... OMIM:620028
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Limb hypertonia, E... OMIM:614498
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Multifocal epileptiform discharges, Inability to walk, Limb hypertonia, Seizure, Bilateral tonic-... ORPHA:488613
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Macroorchidism OMIM:300143
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Spasticity, Upper mo... ORPHA:204
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Spasticity, Tonic seizure, Myoclo... OMIM:618559
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Chorea, Febrile seizure (within the age range of 3 months to 6 years) OMIM:620535
Den Hoed-De Boer-Voisin Syndrome
Focal-onset seizure, Ataxia, Dysphagia, Myoclonus, EEG abnormality, Generalized non-motor (absenc... OMIM:619229
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Seizure, Spasticity, Ataxia, Spasti... OMIM:616640
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Seizure, Infantile spasms, Gene... OMIM:300672
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tongue thrusting, Limb hypertonia, Recurrent hand flapping, I... OMIM:619580
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Bilateral tonic-clonic seizure, Impulsivity, Attention deficit hyperactivity disorder... OMIM:615538
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Seizure, Head titubation, Ataxia, Myoclonus, Dysmetria OMIM:250620
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... ORPHA:101150
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Spasticity, Ataxia, Inability to walk OMIM:617183
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Seizure, Infa... OMIM:619777
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Focal aware seizure, Interictal EEG abnormality, EEG with temporal ... ORPHA:101030
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance ORPHA:101078
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Narp Syndrome
Babinski sign, Seizure, Myoclonic spasms, Ataxia, Progressive gait ataxia ORPHA:644
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Seizure, Tremor, Recurrent han... ORPHA:98794
Angelman Syndrome
Generalized myoclonic seizure, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivi... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Lower limb spasticity, Chorea, Seizur... OMIM:300260
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Clonus, Myoclonus, Status epilepticus OMIM:618201
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Hypsarrhythmia, Seizure, Infantile spasms, Involuntary movements, Chokin... OMIM:620352
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... ORPHA:91348
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Generalized myoclonic seizure, Abnormality of pattern visual evoked potentials, Inability to walk... ORPHA:1947
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure, Infantile spasms, Ataxia OMIM:617201
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Gait ataxia, Myoclonus, A... OMIM:605259
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:614207
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Febrile seizure (within the age range of 3 months to 6 years) OMIM:619989
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, Dysdiadochokinesis, Seiz... ORPHA:101
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:300607
Gaucher Disease, Type Iii
Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:231000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Low... ORPHA:3077
Lujan-Fryns Syndrome
Joint hypermobility, Camptodactyly of finger, Atrial septal defect, Macroorchidism ORPHA:776
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Seizure, Unsteady gait, Myoclonus, Status epilepticus, EEG with burst suppression ORPHA:79096
Spinocerebellar Ataxia 2
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Monomelic Amyotrophy
Fasciculations, Tremor, Abnormality of peripheral nerve conduction ORPHA:65684
Early-Onset Lafora Body Disease
Spastic tetraparesis, Seizure, Ataxia, Myoclonus ORPHA:324290
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, At... ORPHA:251347
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Sulfite Oxidase Deficiency, Isolated
Agitation, Hypertonia, Bilateral tonic-clonic seizure, Ataxia, Hemiplegia, Multifocal epileptifor... OMIM:272300
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Poor fine motor coordination, Poor motor coordination, Bilateral tonic-clonic seizure, M... ORPHA:79264
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Seizure, Myoclonic absence seizure, Tetraplegia, Spasticity, Clonus, Ataxia, Chor... OMIM:616034
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Lower limb spasticity, Hyperactivity, EEG with foc... ORPHA:163681
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dystonia 34, Myoclonic
Torticollis, Head tremor, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seiz... OMIM:615716
Developmental And Epileptic Encephalopathy 49
Facial-lingual fasciculations, Hyperactivity, Spasticity, Tonic seizure, Bilateral tonic-clonic s... OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Involuntary movements, F... OMIM:617798
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Seizure, Spasticity, Gait ataxia, Inappropriate laughter, Opist... OMIM:103050
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor ORPHA:1368
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Truncal ataxia, Seizure, Spasticity, Ataxia, Myoclonus OMIM:252011
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Upper ... ORPHA:457240
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypsarrhythmia, Spasticity, EEG with focal sharp slow waves, Tonic seizure, Bilateral tonic-cloni... OMIM:619983
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Gait disturba... OMIM:617282
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Seizure, Tremor, Spasticity, Unsteady gait, Dysphagia, Motor... OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction... ORPHA:101077
Gm1-Gangliosidosis, Type Iii
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:230650
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
D-Glyceric Aciduria
Tongue thrusting, Focal clonic seizure, Appendicular spasticity, Hypsarrhythmia, Seizure, Spastic... OMIM:220120
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Oromotor apraxia ORPHA:466934
Riboflavin Transporter Deficiency
Seizure, Tremor, Ataxia, Dysphagia, Myoclonus, Aggressive behavior ORPHA:97229
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Torticollis, Blepharospasm, Upper limb postural tremor, Myoclonus, Vocal tremor ORPHA:420485
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Seizure, Tremor, Ataxia, Abnormal pyramidal... OMIM:618060
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Joint hypermobility, Abnormality of the ovary, Hypogonadism ORPHA:1875
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Fragile X Syndrome
Joint hypermobility, Macroorchidism, Mitral valve prolapse ORPHA:908
Dk1-Cdg
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, M... ORPHA:91131
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Aggressive behavior, Spasticity, Bilateral tonic-clonic seizure, Gait disturbance, Rigidity, Hemi... ORPHA:199354
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, Lower limb spasticity, Hyper... ORPHA:363686
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus, Inability to walk, Broad-based gait OMIM:616158
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Lowe... ORPHA:395
47,Xyy Syndrome
Congenital stationary night blindness, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Inc... ORPHA:8
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Bilateral tonic-cloni... ORPHA:496641
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Spinocerebellar Ataxia Type 13
Limb ataxia, Bradykinesia, Difficulty walking, Torticollis, Seizure, Titubation, Gait ataxia, Dys... ORPHA:98768
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Clark-Baraitser syndrome
Joint hypermobility, Macroorchidism OMIM:300602
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Hypertonia, EEG with polyspike wave complexes, Seizure, EEG with focal sharp wav... ORPHA:284417
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Steppage gait, Spasticity... OMIM:609260
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Tremor, Dysphagia, Dystonia OMIM:304700
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Gait disturbance, Spastic paraplegia... OMIM:620538
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Aggressive behavior OMIM:300983
Hyperlysinemia
Tip-toe gait, Simple febrile seizure, EEG with spike-wave complexes, Neck hypertonia, Hyperactivi... ORPHA:2203
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Chorea, Seizure... OMIM:618451
Canavan Disease
Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Opisthotonus, Abnormal pyramidal... OMIM:271900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Epileptic spasm, Appendicular spasticity, Hypsarrhythmia, Seizure, Dysphagia, Myoclonus OMIM:617669
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Gerstmann-Straussler Disease
Limb ataxia, Bradykinesia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Babinski sign, Hypertonia, Seizure, Spasticity, Bilatera... OMIM:615802
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
19P13.3 Microduplication Syndrome
Hyperactivity, Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:447980
Glass Syndrome
Broad-based gait, Hyperactivity, Seizure, Frequent temper tantrums, Bilateral tonic-clonic seizur... OMIM:612313
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:618237
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Cog4-Cdg
Ataxia, Complex febrile seizure, Limb hypertonia ORPHA:263501
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Episodic ataxia, Myoclonus, Choreoathetosis OMIM:312170
Hyperekplexia 1
Hypertonia, Nocturnal seizures, Seizure, Exaggerated startle response, Frequent falls, Myoclonus OMIM:149400
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Dysphagia, Myoclonus, Abnormal pyramidal sign, Dysmetria OMIM:619780
Mepan Syndrome
Chorea, Spasticity, Gait disturbance, Abnormality of visual evoked potentials, Ataxia, Dysphagia,... ORPHA:508093
Alfadhel Syndrome
Spastic paraplegia, Seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:620655
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Mccune-Albright Syndrome
Aneurysmal bone cyst, Recurrent fractures, Polyostotic fibrous dysplasia, Abnormal testis morphol... ORPHA:562
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements, Myo... OMIM:618325
Paganini-Miozzo Syndrome
Febrile seizure (within the age range of 3 months to 6 years) OMIM:301025
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within the age range of 3 mon... OMIM:620073
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Hypsarrhythmia, Epileptic spasm, Myoclonus OMIM:619060
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Hypertonia, Myoclonus OMIM:618240
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Sialidosis Type 1
Decreased nerve conduction velocity, Seizure, Tremor, Gait disturbance, Ataxia, Myoclonus, EEG ab... ORPHA:812
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Involuntary movements, Ataxia... OMIM:618218
Alexander Disease Type Ii
Babinski sign, Spasticity, Rigidity, Ataxia, Dysphagia, Spastic paraparesis, Palatal tremor ORPHA:363722
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Hyperton... ORPHA:79351
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within the age range of 3 mon... ORPHA:404440
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Seizure, Infantile spasms, Tonic seizure, EEG with burst suppression OMIM:619239
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:602481
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response, EEG with temporal focal spikes, Generalized tonic seizu... ORPHA:163985
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Sandhoff Disease, Infantile Form
Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz... ORPHA:309155
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Babinski sign, Seizure, Bilateral tonic-clonic seizure, ... OMIM:615398
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Steppage gait, Hypertonia, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonu... OMIM:616505
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism ORPHA:397685
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Febrile seizure (within the age range of 3 months to 6 years) OMIM:609438
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Seizure, Spasticity, Hemiplegia/hemiparesis, Myoclo... ORPHA:79279
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enlarged polycystic ov... ORPHA:91
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Ste... OMIM:619179
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypertonia, Seizure, Infantile spasms, Spasticity, EEG with focal epileptiform discharges, Bilate... ORPHA:544503
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Ankle clonus, Fasciculations, Incoordination, Seizure... ORPHA:845
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Chromosome 5Q12 Deletion Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615668
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Head tremor, Limb tremor, Unsteady gait, Myoclonus ORPHA:420492
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
White-Sutton Syndrome
Hyperactivity, Incoordination, Seizure, Compulsive behaviors, Febrile seizure (within the age ran... ORPHA:468678
Leukodystrophy, Hypomyelinating, 2
Babinski sign, Seizure, Focal aware seizure, Progressive spasticity, Intention tremor, Rigidity, ... OMIM:608804
Developmental And Epileptic Encephalopathy 101
Seizure, Opisthotonus, Myoclonus OMIM:619814
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:600721
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Spasticity, ... OMIM:615851
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Seizure, Neuromuscular dysphagi... ORPHA:466722
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Wrist flexion contracture, Male hypogonadism, Macroorchidism OMIM:300055
Juvenile Sialidosis Type 2
Generalized myoclonic seizure, Lower limb spasticity, Seizure, Spasticity, Loss of ambulation, At... ORPHA:93399
Microphthalmia-Brain Atrophy Syndrome
Focal hyperkinetic seizure, Generalized myoclonic seizure, Tongue thrusting, Spasticity, Generali... ORPHA:77299
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Fasciculations, Truncal ataxia, General... ORPHA:284289
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Hypsarrhythmia, Spasticity, Seizure, Vocal cord paralysis, Dysphagia, Myoclonus ORPHA:500144
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Torticollis,... OMIM:620224
Intellectual Developmental Disorder, Autosomal Dominant 29
Hypertonia, Hyperactivity, Seizure, Generalized-onset seizure, Frequent temper tantrums, Febrile ... OMIM:616078
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Combined Oxidative Phosphorylation Deficiency 27
Multifocal epileptiform discharges, Chorea, Bilateral tonic-clonic seizure, Opisthotonus, Myoclon... OMIM:616672
Unilateral Polymicrogyria
Focal-onset seizure, Generalized tonic seizure, Seizure, Infantile spasms, Poor fine motor coordi... ORPHA:268943
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Tremor... OMIM:128100
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ... ORPHA:139396
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Focal-onset seizure, Hypertonia, Ankle clonus, Hyperactivity, EEG with burst suppressi... OMIM:620423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Phenylketonuria
EEG abnormality, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Hypertonia, Babinski sign, Abnormality of e... ORPHA:480864
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Hypsarrhythmia, EEG with focal spikes, Infantile spasms, Seizure, EEG with foc... ORPHA:79243
Peho Syndrome
Hypsarrhythmia, Undetectable visual evoked potentials, Seizure, Myoclonus OMIM:260565
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure, Bruxism, Stereotypical hand wringing OMIM:612337
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Tatton-Brown-Rahman Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615879
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Loss of ambulation, Dys... OMIM:168601
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare... OMIM:302800
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Progressive spastic paraparesis, Falls, Upper motor neuron dysfunction, Bila... ORPHA:329308
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Intellectual Developmental Disorder, Autosomal Dominant 1
Seizure, Recurrent hand flapping, Polyphagia, Febrile seizure (within the age range of 3 months t... OMIM:156200
D-Glyceric Aciduria
Chorea, Seizure, Spasticity, Myoclonus ORPHA:941
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Intention tremor, Rigidity, Dysphagia, P... ORPHA:171695
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Spasticity, Bilateral tonic-clonic seizure OMIM:618235
Dystonia-Aphonia Syndrome
Seizure, Gait disturbance, Unsteady gait, Dysphagia, Myoclonus ORPHA:412217
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Tremor, Polyminimyoclonus, Vocal cord paresis, Dysphagia, Impaired tandem gait OMIM:619574
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Abnormality of visual evoked potentials... ORPHA:96
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Hair-pulling, Lower limb spasticity, Hyperactivity, Hypsarrhythmia, Infantile spasms,... ORPHA:447997
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigidity, Dysphagia, Choreoathetosis OMIM:233910
Cog8-Cdg
Seizure, Ataxia, Myoclonus ORPHA:95428
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:466943
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse, Iris coloboma OMIM:618874
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus... ORPHA:364028
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting OMIM:618314
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait, Tremor, Gait disturbance OMIM:118300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Seizure, Spasticity, Ataxia, Myoclonus OMIM:614299
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Hyperactivity, Seizure, Athe... OMIM:617302
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal myoclonic seizure, Seizure, Athetosis, Cerebral palsy, Bilateral tonic-clonic s... ORPHA:369929
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Seizure, Focal tonic seiz... ORPHA:314655
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Seizure, Tremor, Frequent falls, Gait ataxia, Febrile seizure (within the age range of 3 months t... OMIM:300998
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Bilateral tonic-clonic seizure, Motor stereotypy, Broad-based gait OMIM:616351
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Motor stereotypy, Aggressive behavior OMIM:609425
Shashi-Pena Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb hypertonia OMIM:617190
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Flexion contracture, Joint hypermobility, Atrial septal ... OMIM:309520
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr... OMIM:612953
Neuraminidase Deficiency
Seizure, Slurred speech, Dysmetria, Myoclonus OMIM:256550
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Opisthotonus, Dysphagia, Attention deficit hyperactivit... ORPHA:216866
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Gait ataxia, Action tremor, Intention tremor, Unsteady gait, Dysphagia... OMIM:254900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hyperkinetic movements, Hypertonia, Gait disturbance OMIM:236270
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Self-mutilation, Bilateral tonic-clonic seizure ORPHA:453510
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Unsteady gait, Abnormal pyramidal sign OMIM:616795
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Spastic hemiparesis, Cerebellar ataxia associ... ORPHA:268940
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, I... ORPHA:404454
Microcephaly, Amish Type
Limb hypertonia, Myoclonus OMIM:607196
Dihydropyrimidine Dehydrogenase Deficiency
Multifocal epileptiform discharges, Hypertonia, Inability to walk, Seizure, Focal motor seizure, ... ORPHA:1675
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Dysdiadochokinesis, Seizure, Gait disturbance, Intention tremor, Clonus, Intericta... OMIM:301310
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Seizure, Spasticity, Spastic paraplegia, A... OMIM:614969
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Inability to walk, Abnormal peripheral action potential amplitude ORPHA:90117
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Seizure, Tremor, Loss of ambulation, Ataxia, Dysphagia, Myoclonus, Status epile... OMIM:607426
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Focal-onset seizure, Hyperactivity, Cerebral palsy, Impulsivity, Head titubation, Ataxia, EEG abn... OMIM:619475
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Seizure, Parkinsonism with favorable response to dopaminergic medication, Tremor, S... ORPHA:199351
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Seizure, Spasticity, Progressive extrap... ORPHA:445038
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Bilateral tonic-clonic seizure OMIM:619356
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Hypsarrhythmia, Chorea, Seizure, Infantile spasms, Gait ataxia, Ataxia, Myoclonus, Spastic tetrap... OMIM:618321
Prolidase Deficiency
Febrile seizure (within the age range of 3 months to 6 years) OMIM:170100
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Hyperkinetic movements, Truncal ataxia, Seizure, Chorea ORPHA:369847
Peroxisome Biogenesis Disorder 5B
Death in childhood, Oculomotor apraxia, Tremor, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Generalized-onset seizure, Bilateral ... OMIM:615501
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Bilateral tonic-clonic seizure OMIM:540000
Serotonin Syndrome
Agitation, Hypertonia, Seizure, Tremor, Clonus, Rigidity, Restlessness, Myoclonus ORPHA:43116
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Trisomy 20P
Reduced bone mineral density, Hypospadias, Camptodactyly of finger, Joint hypermobility, Cryptorc... ORPHA:261318
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Death in early adulthood, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation... OMIM:607694
Infantile Krabbe Disease
Generalized myoclonic seizure, Decreased nerve conduction velocity, Delayed brainstem auditory ev... ORPHA:206436
Dpm1-Cdg
Generalized myoclonic seizure, Seizure, Spasticity, Early onset absence seizures, Atonic seizure,... ORPHA:79322
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Waddling gait, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal burst... OMIM:620445
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Japanese Encephalitis
Anorexia, Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extra... ORPHA:79139
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Chorea, Athetosis, Impulsivity, Bilateral tonic-clonic seizure, Ataxia, Dysp... OMIM:619435
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Hypsarrhythmia, Seizure, Infantile spasms, Sp... OMIM:618076
Fatal Familial Insomnia
Ataxia, Dysphagia, Myoclonus OMIM:600072
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Dysphagia, Atten... ORPHA:466950
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Opisthot... OMIM:605711
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Head-b... OMIM:620455
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Tongue thrusting, Limb hypertonia, Athetosis, Blepharospasm, Exaggera... OMIM:608643
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Blepharospasm, Involunta... ORPHA:157846
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Intellectual Developmental Disorder, Autosomal Recessive 78
Febrile seizure (within the age range of 3 months to 6 years) OMIM:620237
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Difficulty walking, Inability to walk, Limb hypertonia, Seizure, Spastic... ORPHA:481152
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Moyamoya Disease 6 With Or Without Achalasia
Hemiparesis, Generalized-onset seizure, Dysphagia OMIM:615750
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Seizure, Tremor, Gait disturbance OMIM:300957
Pelizaeus-Merzbacher Disease In Female Carriers
Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Generalized-onset se... ORPHA:280229
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Seizure, Tremor, Spasticity, Ataxia, Opisthotonus, Myoclonus, Choreoathet... OMIM:616271
Alternating Hemiplegia Of Childhood
Anorexia, Paroxysmal dyskinesia, Oral-pharyngeal dysphagia, Oculomotor apraxia, Chorea, Focal mot... ORPHA:2131
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic... OMIM:615474
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Seizure, Pica OMIM:617360
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Inability to walk, Lower limb spasticity, Tongue fasciculations, Seizure, Catapl... OMIM:617193
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia ORPHA:411515
Hatipoglu Immunodeficiency Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Slurred speech OMIM:620331
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Truncal ataxia, Poo... ORPHA:137898
Glucocorticoid Deficiency 2
Focal motor seizure, Myoclonic seizure, Spastic tetraparesis, Myoclonus OMIM:607398
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur... ORPHA:513456
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Chorea, Titubation, Gait ataxia, Dystonia, Dysphagia ORPHA:225147
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Appendicular spasticity, Tremor, Bilateral tonic-clonic seiz... OMIM:617988
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure ORPHA:171680
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Hypertonia, Spasticity, Myoclonus ORPHA:3078
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Loss of ambulation, Dystonia OMIM:615010
Combined Oxidative Phosphorylation Deficiency 14
Seizure, Myoclonic seizure, EEG abnormality, Myoclonus OMIM:614946
Huntington Disease-Like 1
Abnormal posturing, Chorea, Gait ataxia, Restlessness, Dysmetria ORPHA:157941
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia OMIM:616719
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Bilateral tonic-clonic... OMIM:620451
Sandhoff Disease
Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated startle response, Bilater... OMIM:268800
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Weaver Syndrome
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Poor fine motor coordin... OMIM:277590
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Myoclonic seizure, Hyperkinetic movements, Gait disturbance OMIM:620469
Microcephaly-Capillary Malformation Syndrome
Seizure, Spastic tetraparesis, Infantile spasms, Myoclonus OMIM:614261
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agitation, Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Generalized-onset seiz... ORPHA:2148
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus OMIM:619167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Increased susceptibility to fractures, Carpal osteolysis, Osteolysis involving bones ... ORPHA:371428
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic tetraparesis, Bilateral ton... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Broad-based gait, Polyphagia,... OMIM:620330
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Seizure, Spastic tetraparesis, Loss of ambulation, Dysphagia, Restlessnes... ORPHA:391428
Brain-Lung-Thyroid Syndrome
Apraxia, Falls, Hyperactivity, Chorea, Incoordination, Compulsive behaviors, Intention tremor, Ab... ORPHA:209905
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with spike-wave complexes, Oculomotor apraxia, EEG with polyspike wave complexes, Seizure, Bi... ORPHA:247262
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Hyperkinetic movements, Interictal epileptiform activity, Truncal ataxia, Seizure, Loss of abilit... OMIM:300243
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Chromosome 19Q13.11 Deletion Syndrome, Distal
Febrile seizure (within the age range of 3 months to 6 years) OMIM:613026
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, G... ORPHA:90674
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:96147
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Seizure, Abnorma... ORPHA:258
Nmda Receptor Encephalitis
Agitation, Focal-onset seizure, EEG with temporal sharp slow waves, Chorea, Seizure, Generalized-... ORPHA:217253
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Babinski sign, Hyperkinetic movements, Seizure, Spasticity, Gait ataxia, Loss of ambulation, Ataxia OMIM:620089
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Limb hypertonia, Undetectable visual evoked potentials, Spastic tetraparesis, Bila... ORPHA:423479
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Hypertonia, Broad-based gait, Seizure, St... ORPHA:268261
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Inability to walk, Seizure, Increased theta frequency activity in EEG, Bilat... ORPHA:459070
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, L... OMIM:208920
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Inability to walk, Loss of ability to walk in early childhood, Infantile ... OMIM:612073
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Lower limb spasticity, Seizur... OMIM:617799
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Limb hypertonia, Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclon... OMIM:620070
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Inability to walk, EEG with burst suppression, Seizure, Gait disturbance, Bi... OMIM:618143
Keppen-Lubinsky Syndrome
Hypertonia, Seizure, Spastic tetraparesis, Febrile seizure (within the age range of 3 months to 6... OMIM:614098
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Warburg Micro Syndrome 3
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Myoclonic seizure, Ankl... OMIM:614222
9P13 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Hand tremor, Bruxism, Myoclonus ORPHA:324313
Congenital Sialidosis Type 2
Seizure, Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Myoclonus, Gait ataxia ORPHA:70595
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Infantile spasms, Bilateral tonic-clonic seizure, Decreased ... OMIM:618733
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor OMIM:607734
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus OMIM:620167
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Pelger-Huet Anomaly
Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure OMIM:169400
Niemann-Pick Disease Type C
Focal-onset seizure, Chorea, Ataxia, Dysphagia, Myoclonus, Clumsiness, Aggressive behavior, Seizu... ORPHA:646
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... ORPHA:369837
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Eiken Syndrome
Febrile seizure (within the age range of 3 months to 6 years) OMIM:600002
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Hyperkinetic movements, Inability to walk, Spasticity, Seizure OMIM:616420
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Tremor, Intention tremor, Spastic paraplegia... OMIM:312080
Valinemia
Hyperkinetic movements OMIM:277100
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 73
Tip-toe gait, Apraxia, Pica, Seizure, Self hugging, Recurrent hand flapping, Spasticity, Febrile ... OMIM:620450
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure, Broad-based gait OMIM:616716
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Head titubati... ORPHA:2388
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Polyphagia, Myoclonus ORPHA:251004
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:618426
Whipple Disease
Polydipsia, Anorexia, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Seizure, Myoclonus OMIM:614922
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Spastic hemiparesis, Hypsarrhythmia, Seizure, Spasticity, Ataxia, Myoclonus, EEG abnorm... ORPHA:20
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Spasticity, Dysdiadoch... ORPHA:247234
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Oral-pharyngeal dysphagia, C... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Death in infancy, Dystonia, Choreoathetosis OMIM:617664
Cerebrotendinous Xanthomatosis
Babinski sign, Agitation, Decreased nerve conduction velocity, Palatal tremor, Resting tremor, Ab... ORPHA:909
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Shigellosis
Anorexia, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:810
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic paraplegia, Pseudobulba... OMIM:616586
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Short stature, Motor stereotypy, Attention ... OMIM:620141
Orofaciodigital Syndrome Type 3
Spasticity, Focal seizure with eyelid myoclonia, Oculomotor apraxia, Myoclonus ORPHA:2752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, Seizure, Athetosis... OMIM:615356
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Generalized-onset seizure, Bilateral toni... OMIM:614231
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Seizure, Generalized-onset seizure, Action tre... ORPHA:199343
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Ca... ORPHA:1359
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Motor stereotypy, Attention deficit hyperactiv... ORPHA:464311
Aymé-Gripp Syndrome
Seizure, EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:1272
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Blepharospasm, Upper motor neuron dy... ORPHA:306674
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Hermansky-Pudlak Syndrome 10
EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Torticollis, Seizure, Spasticity, Absent brainstem auditory ... OMIM:609136
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Gait imbalance, Seizure, Gait disturbance, Bilateral tonic-clonic seizure wit... ORPHA:488627
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Gait ataxia, Action tremor, Head titubation, Ataxia, Babinski sign, Hypertonia, Tre... ORPHA:99027
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Sialuria
Attention deficit hyperactivity disorder, Seizure, Hyperkinetic movements ORPHA:3166
X-Linked Creatine Transporter Deficiency
Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Truncal ataxia, Seizure, Spasticity, Lower limb hypertonia, Ataxia, Myoclonus, Pos... OMIM:301072
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Seizure, Tremor, Intention ... OMIM:208900
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... ORPHA:765
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Status epilepticus, Generalized-onset seizure ORPHA:564178
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168600
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Hypertonia, Focal-onset seizure, Hypsarrhythmia, Generalized-onset seizure, Toni... OMIM:620024
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Clonus, Myoclonus, Spastic tetraplegia, Status epilepticus OMIM:619055
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Lower limb spasticity, Truncal ataxia, Generalized-onset seizure, Abnormal pyramidal si... OMIM:618249
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, EEG abnormality, Spasticity, Myoclonus OMIM:246450
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Hypertonia, Focal myoclonic seizure, Generalized non-convulsive sta... OMIM:203700
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Babinski sign, Broad-based gait, Seizure, Myoclonus, Frequent falls, Gait ataxia, Ataxia, Dysphag... OMIM:607459
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Difficulty walking, Fasciculations, Tremor, Frequent falls, ... ORPHA:329478
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Opisthotonus, Spastic tetr... OMIM:252160
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Hypertonia, Chorea, Seizure, Infantile spasms, Spasticity, Bilater... ORPHA:255210
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Melas
Focal-onset seizure, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, Atax... ORPHA:550
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure ORPHA:99742
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Proteus Syndrome
Retinal hamartoma, Cranial hyperostosis, Ovarian neoplasm, Long penis, Hyperostosis, Testicular n... ORPHA:744
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Immunodeficiency 23
Ataxia, Cortical myoclonus, Myoclonus OMIM:615816
De Sanctis-Cacchione Syndrome
Babinski sign, Hypertonia, Scissor gait, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Chor... OMIM:278800
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Hyper-Igd Syndrome
Febrile seizure (within the age range of 3 months to 6 years) OMIM:260920
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Opsoclonus-Myoclonus Syndrome
Limb myoclonus, Rigidity, Ataxia, Myoclonus ORPHA:1183
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Hypertonia, Hyperkinetic movements, Bilateral tonic-clonic seizure with generali... OMIM:619124
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Chorea, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intention tremor, Dystonia, ... OMIM:610217
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at... ORPHA:48818
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Disinhibition, Attention deficit hyperactivity disorder, Somatic... ORPHA:43
Neuroblastoma
Ataxia, Myoclonus, Antalgic gait ORPHA:635
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Truncal ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ato... OMIM:620066
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Growth delay OMIM:614857
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Myoclonic spasms ORPHA:36913
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Seizure, Poor gross motor coordination, Bilateral tonic-clonic s... OMIM:614756
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Gait ataxia, Head tremor, Dystonia, Progressive ... OMIM:606002
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
X-Linked Intellectual Disability, Snyder Type
Generalized myoclonic seizure, Inability to walk, Focal motor seizure, Involuntary movements, Uns... ORPHA:3063
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Joint hypermobility, Macroorchidism OMIM:619950
Farber Disease
Spasticity, Seizure, Infantile spasms, Paraparesis, Myoclonus ORPHA:333
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Hyperactivity, Seizure, Polyphagia, Compulsive behaviors, Tonic seizure,... OMIM:615873
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Seizure, Unsteady gait, Myoclonus, Choreoathetosis, Aggressiv... ORPHA:17
Joubert Syndrome 1
Oculomotor apraxia, Hyperactivity, Hemifacial spasm, Ataxia, Self-mutilation, Aggressive behavior OMIM:213300
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Unsteady gait, ... OMIM:614947
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hypertonia, Inability to walk, Seizure, Spasticity, Ataxia, Convulsive status epilepticus OMIM:608885
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Ethylene Glycol Poisoning
Seizure, Addictive alcohol use, Ataxia, Myoclonus, Slurred speech ORPHA:31826
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Postnatal growth retardation, Intrauterine growth retardation, Short stature OMIM:608747
Molybdenum Cofactor Deficiency, Complementation Group A
Seizure, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia OMIM:252150
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Reduced ... ORPHA:90796
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Pgm3-Cdg
Seizure, Ataxia, Cortical myoclonus, Myoclonus ORPHA:443811
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Myoclonic spasms ORPHA:94089
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Vertebral fusion, Hypopla... ORPHA:3109
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Tremor, Ataxia, Bilateral tonic-clonic seizure OMIM:610505
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Focal-onset seizure, Hypsarrhythmia, Infantile spasms, Seizure, Spastic tetraparesis,... OMIM:301044
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Bilateral tonic-clonic seizure, To... OMIM:619512
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:99885
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Dysdiadochokinesis, Tremor, A... OMIM:617675
Aspartylglucosaminuria
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Macroorchidism ORPHA:93
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Seizure, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:301040
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Cocaine Intoxication
Agitation, Focal-onset seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Involuntary move... ORPHA:90068
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Scorpion Envenomation
Hyperkinetic movements, Seizure, Tremor, Hemifacial spasm, Ataxia, Restlessness, Myoclonus ORPHA:466677
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Blepharospasm, Dysphagia, Bruxism ORPHA:93958
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Pontocerebellar Hypoplasia Type 7
Hypertonia, Fasciculations, Fatigable weakness of skeletal muscles, Seizure, Spasticity, Involunt... ORPHA:284339
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, EEG with spike-wave complexes, Athetoid cerebral palsy, Ch... ORPHA:522077
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Motor s... OMIM:612474
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Seizure, Spasticity, Rigidi... ORPHA:2636
Lathosterolosis
Seizure, Myoclonus ORPHA:46059
Leigh Syndrome
Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Seizure, Athetosis,... ORPHA:506
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa... ORPHA:95699
Lujo Hemorrhagic Fever
Resting tremor, Seizure, Dysphagia, Bilateral tonic-clonic seizure ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Tongue fasciculations, Spasticity, Undetectable visual evoked potentials, Bilatera... OMIM:252010
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Tetraplegia OMIM:257300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure, Paraparesis ORPHA:79124
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure, Bruxism, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure, Bruxism, Inability to walk ORPHA:352665
Poliomyelitis
Anorexia, Agitation, Hyperkinetic movements, Fatigable weakness of respiratory muscles, Inability... ORPHA:2912
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Decreased distal sensory nerve action potential, Difficulty walking, Inability to w... ORPHA:99956
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Tick-Borne Encephalitis
Anorexia, Fatigable weakness of respiratory muscles, Focal-onset seizure, Hyperkinetic movements,... ORPHA:297
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Chronic Visceral Acid Sphingomyelinase Deficiency
Attention deficit hyperactivity disorder, Generalized non-motor (absence) seizure, Ataxia, Apraxia ORPHA:77293
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Inability to walk, Limb hypertonia, Hypsarrhythmia, Seizure, Spasticity, Spa... OMIM:620371
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Microphthalmia, Syndromic 2
Dextrocardia, Hypospadias, Retinal detachment, Contracture of the proximal interphalangeal joint ... OMIM:300166
Hallermann-Streiff Syndrome
Hyperactivity, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:234100
D-Bifunctional Protein Deficiency
Seizure, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure OMIM:261515
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:234200
Cystic Echinococcosis
Bone cyst, Abnormal heart morphology, Ovarian cyst, Abnormality of the testis size ORPHA:400
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Listeriosis
Seizure, Tremor, Hemiparesis, Ataxia, Myoclonus ORPHA:533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Stereotypical hand wringing, Exagg... ORPHA:438213
Autosomal Dominant Hypocalcemia
Fatigable weakness, Cortical myoclonus ORPHA:428
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... OMIM:601104
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Falls, Tremor, Lower limb hypertonia, Abnormal p... ORPHA:447753
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Aspartylglucosaminuria
Joint hypermobility, Pathologic fracture, Macroorchidism OMIM:208400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Trichorhinophalangeal Syndrome, Type Ii
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hemiparesis OMIM:150230
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... ORPHA:821
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Tetraplegia, Myoclonus OMIM:618278
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Joint hypermobility, Remnants of the hyaloid vascular system ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Seizure, Spasticity, Myoclonus, EEG abnormality, Enlarged flash visual evoked potentials OMIM:253280
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Violen... OMIM:280000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Spasticity, Generalized-onset seizure, Dysphagia ORPHA:500150
Pediatric-Onset Graves Disease
Polydipsia, Hyperkinetic movements, Hyperactivity, Tremor, Polyphagia ORPHA:525731
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Polyphagia, Myoclonic spasms ORPHA:79444
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Atonic seizure, Typical absence seizure, Focal-onset seizure OMIM:617157
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism OMIM:146500
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Polyphagia, Involuntary movements, Myoclonic spasms, Choreoathetosis ORPHA:79443
Vici Syndrome
Abnormal posturing, Postnatal growth retardation, Dysphagia OMIM:242840
Meningioma
Focal-onset seizure, Difficulty walking, Seizure, Hemifacial spasm, Hemiparesis, Ataxia, Abnormal... ORPHA:2495
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:457359
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Gaucher Disease
Generalized myoclonic seizure, Oculomotor apraxia, Abnormality of extrapyramidal motor function, ... ORPHA:355
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Atelis Syndrome 2
Vitreous hemorrhage, Supravalvar pulmonary stenosis, Pulmonic stenosis, Remnants of the hyaloid v... OMIM:620185
Ogden Syndrome
Hypertonia, Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Dysphagia, Mo... OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Hyperkinetic movements, Seizure, Spasticity, Motor stereotypy, Abnormal pyramidal sig... ORPHA:468631
Doors Syndrome
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Mowat-Wilson Syndrome
Focal-onset seizure, EEG with spike-wave complexes, Inability to walk, Broad-based gait, Seizure,... ORPHA:2152
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Poor fine motor coordination, ... ORPHA:261537
Acrofacial Dysostosis, Cincinnati Type
Lower limb spasticity, Infantile spasms, Seizure, Vocal cord paralysis, Abnormality of coordinati... OMIM:616462
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Poor fine motor coordination, ... ORPHA:261552
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Reduced bone mineral density, Increased circulating gonadotropin level, Abnormality o... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Reduced bone mineral density, Increased circulating gonadotropin level, Abnormality o... ORPHA:99228
Monosomy X
Osteopenia, Reduced bone mineral density, Increased circulating gonadotropin level, Abnormality o... ORPHA:99226
Turner Syndrome
Osteopenia, Reduced bone mineral density, Increased circulating gonadotropin level, Abnormality o... ORPHA:881
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n... ORPHA:637
Holoprosencephaly 2
Cyclopia, Iris coloboma, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Ch... OMIM:157170
Histidinemia
Hyperactivity ORPHA:2157
Neuroocular Syndrome
Hyperextensibility of the finger joints, Patent foramen ovale, Remnants of the hyaloid vascular s... OMIM:619539
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Alström Syndrome
Typical absence seizure, Incoordination, Poor fine motor coordination, Polyphagia, Ataxia ORPHA:64

Histopathology

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

There is no histopathology data for Gabrg2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gabrg2.

No publications found that use IMPC mice or data for Gabrg2.

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MGI Allele Allele Type Produced
Gabrg2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabrg2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Gabrg2tm355(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gabrg2tm355(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gabrg2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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