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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... OMIM:301008
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... ORPHA:139426
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hypsarrhyt... OMIM:617113
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... OMIM:618357
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... 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
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... ORPHA:98818
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG with p... OMIM:617665
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Hypsarrhythmia, ... OMIM:616056
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... ORPHA:268947
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spi... OMIM:614018
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Lennox-Gastaut Syndrome
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... ORPHA:2382
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within t... OMIM:616366
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Spastic gait, Seizure, Gene... OMIM:620540
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Aggressive ... OMIM:616409
Infantile Convulsions And Choreoathetosis
Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... ORPHA:31709
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait ataxia,... OMIM:618587
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to wal... 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, Seizure, Bilateral tonic-clonic seizure with generalized... 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
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... OMIM:616187
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Infantile Spasms Syndrome
Hypsarrhythmia, Infantile spasms, Myoclonus ORPHA:3451
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa... OMIM:615006
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive... OMIM:619157
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Dravet Syndrome
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... ORPHA:33069
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... OMIM:615400
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Moto... OMIM:617171
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Lower limb spas... OMIM:619639
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... OMIM:245570
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Bilateral tonic... OMIM:608636
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge... ORPHA:1949
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia OMIM:600143
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Ataxia, Spasticity, Generalized myoclonic seizure, Focal im... ORPHA:599373
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... OMIM:617935
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure, Restlessness, Focal impaired awarene... OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Myoclonic seizure, Atypical absence seizure, Multifocal epileptiform d... OMIM:618596
Intellectual Developmental Disorder, Autosomal Recessive 57
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:617188
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
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
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Epilepsy, Progressive Myoclonic, 11
Giant somatosensory evoked potentials, Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:162350
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
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
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Continuous spike and waves during slow sleep, Gen... OMIM:619913
Epilepsy, Progressive Myoclonic, 8
Falls, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Truncal ataxia, Gait disturbanc... OMIM:616230
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Aggressive behav... ORPHA:98811
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Bilateral ton... OMIM:619191
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... OMIM:617771
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure... OMIM:617904
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:618917
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Hypsarrhythmia, EEG abnormality... ORPHA:1935
Developmental And Epileptic Encephalopathy 30
Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic ... OMIM:616341
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Foca... OMIM:620145
Myoclonus-Dystonia Syndrome
Limb myoclonus, Myoclonus, Torticollis, Spinal myoclonus, Compulsive behaviors ORPHA:36899
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, EEG abnormality, Bilateral tonic-clonic seizure, Ata... OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... OMIM:617810
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Developmental And Epileptic Encephalopathy 60
Spastic tetraplegia, Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, EEG with bur... OMIM:617929
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Restless legs OMIM:102300
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre... OMIM:616540
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... OMIM:117100
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Seizure, Ataxia OMIM:204500
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Stereo... ORPHA:289266
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Generalized myoclonic seizure, Seizure, Chorea, Abnormality of e... ORPHA:382
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur... OMIM:608105
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Compulsive behaviors OMIM:159900
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... ORPHA:352582
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Status epi... OMIM:618285
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, EEG abnormality, Ataxia OMIM:617829
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... OMIM:616139
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Attention deficit... OMIM:619605
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Attention deficit hyperactivity disorder, EEG with generalized epilept... ORPHA:35878
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu... ORPHA:163721
Spastic Paraplegia 89, Autosomal Recessive
Ataxia, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:620379
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Difficulty walki... ORPHA:512260
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... OMIM:618012
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... OMIM:617711
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure,... ORPHA:485350
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior, Limb tremor, Focal tonic seizur... OMIM:300699
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure OMIM:618425
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal choreoathetosis, F... OMIM:602066
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) OMIM:618412
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Seizure, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dysphagia, Status epilepti... OMIM:620448
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... OMIM:617106
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 70
Severe temper tantrums, Attention deficit hyperactivity disorder, Seizure, Febrile seizure (withi... OMIM:618402
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila... OMIM:614322
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ... ORPHA:95434
Spastic Paraplegia 86, Autosomal Recessive
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w... OMIM:619735
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia OMIM:615924
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:477673
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... ORPHA:64280
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... OMIM:615362
Developmental And Epileptic Encephalopathy 34
Seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,... OMIM:616645
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, EEG abnormality, Ataxia, C... OMIM:606777
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Ankle clonus, Babinski sign, H... OMIM:616657
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,... OMIM:611726
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait disturbance, Hyp... OMIM:618090
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... ORPHA:1942
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300425
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... ORPHA:101071
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive trait, Ata... ORPHA:168491
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... ORPHA:3006
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clu... OMIM:256731
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior,... ORPHA:208441
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Seizure, Hyperactivity ORPHA:436151
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Freque... OMIM:301020
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Spermatogenic Failure 17
Male infertility OMIM:617214
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, EEG with burst suppression, Myoclonus, Attention deficit hyperactivity ... OMIM:619971
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure OMIM:613886
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Bilateral toni... OMIM:619028
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson... OMIM:605407
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e... OMIM:618924
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Glycine Encephalopathy 1
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Hypsarrhythmia, Spastic tetraparesis, Choreoathetosis OMIM:617065
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Myoclonic seizure, Seizure, Inability to walk, Epileptic spa... OMIM:614254
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Loss of ambulation, Tetraplegia, Ataxia, Slurred speech,... ORPHA:206443
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spas... ORPHA:208447
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure 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, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Int... OMIM:620208
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Re... OMIM:617600
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Bruxism, Myoclonus, Stereotypical... 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
Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive behavior, EEG abnorm... OMIM:604317
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus... OMIM:609056
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Compulsive behaviors, Myoclonus, Agitation, Tremor OMIM:619651
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Inability to walk, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:619701
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impair... OMIM:300423
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi... ORPHA:71277
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, General... OMIM:617976
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Hemimegalencephaly
Hemihypsarrhythmia, Seizure, EEG with focal sharp slow waves, Interictal EEG abnormality, Epilept... ORPHA:99802
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizure, Hemiplegi... ORPHA:352596
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Gait disturbance, EEG abnormality OMIM:618193
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Chorea, Stereotypical ... OMIM:618760
Dystonia 23
Head tremor, Gait disturbance, Myoclonus, Torticollis OMIM:614860
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Babinski sign, Ataxia OMIM:618242
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Mo... OMIM:500003
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl... OMIM:619854
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Se... OMIM:619827
Lipoid Proteinosis Of Urbach And Wiethe
Aggressive behavior, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz... OMIM:619616
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Motor stereotypy, Bilateral ... OMIM:617862
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
Dystonia 3, Torsion, X-Linked
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor OMIM:314250
Combined Saposin Deficiency
Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure OMIM:611721
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ... ORPHA:293181
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dysphagia, Choreoathetosis OMIM:261630
Rasmussen Subacute Encephalitis
Hemiparesis, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Focal se... ORPHA:1929
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to walk, Focal-onset sei... ORPHA:330050
L-Ferritin Deficiency
Generalized-onset seizure, Restless legs 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, Inability to walk, Infantile spasms, Myoclonus, Generali... ORPHA:411986
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkineti... OMIM:617493
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myocl... ORPHA:79263
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait 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
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, 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
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Geniospasm 1
Chin myoclonus OMIM:190100
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... OMIM:618010
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Restrictive behavior, Inappropriate behavior, Fasciculations, ... ORPHA:275864
Abeta Amyloidosis, Arctic Type
Febrile seizure (within the age range of 3 months to 6 years) ORPHA:324723
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Gait disturbance, Bila... ORPHA:100988
Combined Oxidative Phosphorylation Deficiency 35
EEG abnormality, Spasticity, Generalized myoclonic seizure, Febrile seizure (within the age range... OMIM:617873
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Attention deficit hyperactivi... OMIM:619725
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Infantile spasms, Hypsarrhythmia, Hypertonia, Spast... OMIM:618677
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... 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
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, F... OMIM:226750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus, Seizure OMIM:610090
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi... OMIM:159950
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Clumsiness, Aggressive behavior, Hyperactivity,... OMIM:300558
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... ORPHA:3095
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Par... ORPHA:53583
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... ORPHA:313772
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension OMIM:300706
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Hyperprolinemia, Type I
Seizure, Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy, Status ep... OMIM:239500
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Dysmetria, Babinski sign... OMIM:618170
Juvenile Huntington Disease
Broad-based gait, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Hyperactivity, Ataxia, Brady... ORPHA:248111
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Developmental And Epileptic Encephalopathy 1
EEG with burst suppression, Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyrami... OMIM:308350
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Ankle clonus, Dysphagia, Hand tremor, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:280384
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia OMIM:611603
3-Methylglutaconic Aciduria, Type I
Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Self-mutilation, Ataxi... OMIM:250950
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of... ORPHA:13
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Focal ... OMIM:616521
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, EEG with... OMIM:612164
Lafora Disease
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... ORPHA:501
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Inappropr... OMIM:614104
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil... OMIM:615338
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi... OMIM:607346
Developmental And Epileptic Encephalopathy 28
Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile... OMIM:616211
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia, Dysmetria, Febrile seizure (within the age range of 3 months to 6 years) OMIM:618384
Spastic Paraplegia 52, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral palsy, Febrile seizure (within the age range of 3 months... OMIM:614067
Ring Chromosome 21 Syndrome
Spasticity, Seizure, Bilateral tonic-clonic seizure with generalized onset, Gait disturbance, EEG... ORPHA:1445
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-on... ORPHA:561854
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Ataxia, Spasticity, Falls, Febrile seizure (within the age range of 3 months to 6 years) OMIM:619224
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni... OMIM:615859
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... OMIM:619911
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Febrile seizure (within the age range of 3 months to 6 years), Babinski sign, Clonus, EEG abnorma... OMIM:618868
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hyperlysinemia, Type I
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Clumsiness, Hyperactivity... OMIM:238700
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Status epileptic... OMIM:617105
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp... OMIM:616281
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis... OMIM:204200
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Ankle clonus, Babinski sign, Hypsarrhythmia, Lim... OMIM:301058
Intellectual Developmental Disorder, Autosomal Dominant 51
Fixated interests, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand ... OMIM:617788
Pontocerebellar Hypoplasia Type 2
Spasticity, Seizure, Upper limb hypertonia, Oral-pharyngeal dysphagia, Infantile spasms, Babinski... ORPHA:2524
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Dysmetria, Lower limb spasticity, Bilateral tonic-clonic seizure, Torticollis... OMIM:620453
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia OMIM:256730
Spinocerebellar Ataxia 17
Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Aggr... OMIM:607136
Benign Occipital Epilepsy
EEG with occipital focal spike waves, Focal impaired awareness seizure ORPHA:25968
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, EEG abnormality, Bilateral tonic-c... OMIM:613970
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia, Dysphagia OMIM:225753
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Seizure, Ataxia OMIM:612015
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Pitt-Hopkins-Like Syndrome 1
Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo... OMIM:610042
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus, Seizure OMIM:618251
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,... ORPHA:306511
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s... OMIM:617290
Hartnup Disorder
Seizure, Episodic ataxia, Generalized tonic seizure, Attention deficit hyperactivity disorder, Hy... OMIM:234500
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, To... OMIM:619862
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure ORPHA:166063
Severe Neonatal-Onset Encephalopathy With Microcephaly
Spasticity, Involuntary movements, Seizure, EEG with focal slow activity, Bilateral tonic-clonic ... ORPHA:209370
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech ORPHA:3327
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait OMIM:203740
Huntington Disease
Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Clonus, Bradykinesia, Poor fine motor ... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Early Infantile Epileptic Encephalopathy
Spasticity, Hypsarrhythmia, Choreoathetosis, Self-injurious behavior, Generalized non-motor (abse... ORPHA:1934
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... OMIM:619881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Gonadal dysgenesis OMIM:615041
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se... ORPHA:544254
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:139485
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Seizure, Difficulty walking, Abnormality of coordination, Myoc... ORPHA:442835
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu... OMIM:618093
Hsd10 Disease
Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Dysphagia, C... ORPHA:391417
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Self-injurious behavior, Seizure, Stereotypical hand wringing ORPHA:397933
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Att... ORPHA:98784
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal hemiclonic seizure, Hypsarrhythmia, Dysphagia, EEG with generalized epileptiform discharges... OMIM:616973
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Inappropriate behavior, Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Ag... OMIM:221770
Muscular Dystrophy, Congenital, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... OMIM:620166
Developmental And Epileptic Encephalopathy 110
Spasticity, Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure... OMIM:620149
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Dystonia 6, Torsion
Myoclonus, Torticollis OMIM:602629
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... OMIM:618856
Hyperekplexia 4
Seizure, Infantile spasms, Myoclonus, Hypsarrhythmia, Hypertonia OMIM:618011
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Peho-Like Syndrome
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:619847
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Retrocollis, Myoclonus, Tremor, Gait disturbance, Torticollis OMIM:617284
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610992
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Seizure, Aggressive behavior, Hyperactivity, Compulsive ... OMIM:301107
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG ... ORPHA:529665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia With Epilepsy
Dysdiadochokinesis, Myoclonus, EEG with occipital epileptiform discharges, Dysmetria, Gait ataxia... ORPHA:254881
Congenital Disorder Of Glycosylation, Type Iic
Compulsive behaviors, Febrile seizure (within the age range of 3 months to 6 years) OMIM:266265
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Alexander Disease
Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor OMIM:203450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... OMIM:619301
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Attention def... ORPHA:467166
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Intellectual Developmental Disorder, Autosomal Dominant 74
Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure, Motor tics OMIM:620688
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr... ORPHA:93952
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Loss of ambulation... ORPHA:225154
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Hyperactivity, Seizure OMIM:609924
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance, Athetosis OMIM:618241
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Athetosis ORPHA:98809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Spasti... OMIM:618770
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... OMIM:612949
Alzheimer Disease 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a... OMIM:607822
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... OMIM:619302
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Familial Or Sporadic Hemiplegic Migraine
Tongue fasciculations, Involuntary movements, Facial paralysis, Alien limb phenomenon, EEG with g... ORPHA:569
Severe Canavan Disease
Spasticity, Seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Bilateral tonic... ORPHA:314911
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Myoclonus, Intractable, Neonatal
Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure OMIM:617235
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Seizure, Ataxia OMIM:620094
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia ORPHA:324708
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Pa... OMIM:606693
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,... OMIM:606703
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait imbalance, Gait ataxia, Bilateral tonic-clonic seizure, EEG with focal spikes ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, Babinski si... OMIM:618356
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto... ORPHA:401866
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect ORPHA:2477
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... OMIM:309548
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Smith-Magenis syndrome
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Seizure, Myoclonus, Ataxia, EEG with focal epileptiform dis... ORPHA:163921
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Gait disturbance, Slurred speech, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:1349
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action potential ampl... ORPHA:457205
Developmental And Epileptic Encephalopathy 72
Inability to walk, Infantile spasms, Hyperkinetic movements, Hypsarrhythmia, Dysphagia OMIM:618374
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Fraxe Intellectual Disability
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Impulsivity... ORPHA:100973
Nipah Virus Disease
Tremor, Myoclonus, Seizure, Anorexia ORPHA:99825
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait OMIM:615031
Brain Small Vessel Disease 2
Hemiplegia, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse, Joint hypermobility OMIM:300624
Developmental And Epileptic Encephalopathy 61
Spasticity, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizure wit... OMIM:617933
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia ORPHA:3197
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak... ORPHA:42
Chromosome Xq13 Duplication Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:301069
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Partington Syndrome
Macroorchidism ORPHA:94083
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... ORPHA:95232
Satb2-Associated Syndrome Due To A Pathogenic Variant
Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure ORPHA:576283
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia OMIM:618225
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ... ORPHA:97355
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali... OMIM:618067
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Inability to walk, Epileptic spasm, Hypsarrhythmia, Hypertonia, Bilateral toni... OMIM:619877
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnor... ORPHA:363400
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Alexander Disease Type I
Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor ORPHA:363717
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In... OMIM:300912
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,... ORPHA:464282
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Spasticity, Seizure, Generalized non-motor (absence) seizure, Inability ... ORPHA:457351
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Tremor, Ataxia ORPHA:101075
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Multifocal epileptiform discharges, Focal-... OMIM:618972
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor ... ORPHA:500180
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Seizure, Abnormality of extrapyramidal motor function OMIM:604218
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Dysdiadochokinesi... ORPHA:98761
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Infantile Cerebellar-Retinal Degeneration
Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:614559
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ... OMIM:618877
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Seizure, Inability to walk, Myoclonus, Clumsiness, Attention defici... OMIM:617854
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... OMIM:613839
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia,... ORPHA:1020
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, EEG abnormality, Seizure, Rigidity OMIM:300673
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis ORPHA:3129
Developmental And Epileptic Encephalopathy 46
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia, Dysphagia OMIM:617162
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Seizure, Inability to walk, Bruxism, Tremor, Paroxysmal burs... OMIM:618718
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se... OMIM:620028
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, EEG with burst suppression, Rigidity, Babinski sign, Clonus, Limb ... OMIM:614498
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Seizure, Inability to walk, Limb hypertonia, EEG ab... ORPHA:488613
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Joint hypermobility OMIM:300143
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w... OMIM:618559
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Chorea, Febrile seizure (within the age range of 3 months to 6 years) OMIM:620535
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... OMIM:616640
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Generalized non-motor (absence) ... OMIM:619229
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Myoclonus, Hypsarrhythmi... OMIM:300672
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Myoclonic seizure, Inability to walk, Epileptic spasm, Gait ataxia, Recurrent hand flappi... OMIM:619580
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Status epil... OMIM:615538
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Tremor, Hemiparesis OMIM:141500
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia OMIM:250620
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Subependymal Nodular Heterotopia
Limb myoclonus, Seizure, EEG with temporal focal spike waves, Interictal EEG abnormality, EEG wit... ORPHA:101030
Harel-Yoon Syndrome
Inability to walk, Spasticity, Generalized non-motor (absence) seizure, Ataxia OMIM:617183
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Gait disturbance, Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Narp Syndrome
Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia ORPHA:644
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Seizure, Inappropriate laughter, Abnormal... ORPHA:98794
Angelman Syndrome
Ataxia, Self-injurious behavior, Broad-based gait, Seizure, Inability to walk, Inappropriate laug... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Bruxism, Chorea, Rigidity, T... OMIM:300260
Functioning Gonadotropic Adenoma
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... ORPHA:91348
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus OMIM:618201
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas... OMIM:620352
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia, Ataxia OMIM:617201
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, Spastic tetraplegia, EEG with generalized epileptiform disc... ORPHA:1947
Spinocerebellar Ataxia 13
Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres... OMIM:605259
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... 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
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exag... OMIM:300607
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:231000
Lujan-Fryns Syndrome
Joint hypermobility, Macroorchidism, Atrial septal defect, Camptodactyly of finger ORPHA:776
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Focal EEG discharges with secondary ge... ORPHA:3077
Pyridoxal Phosphate-Responsive Seizures
Seizure, EEG with burst suppression, Myoclonus, Hypertonia, Unsteady gait, Status epilepticus ORPHA:79096
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations ORPHA:65684
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Seizure, Ataxia ORPHA:324290
Ataxia-Telangiectasia-Like Disorder
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent... ORPHA:251347
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Interictal EEG abnormality, Loss of ambulation, Clumsiness, Par... ORPHA:79264
Sulfite Oxidase Deficiency, Isolated
Ataxia, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharge... OMIM:272300
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Spasticity, Seizure, Incoordination, Clonus, Tetraplegia, Ataxia, Chor... OMIM:616034
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal temper tantrums, EEG with generalized epileptiform discharges, Seizure, Cerebral... ORPHA:163681
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure OMIM:609241
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis OMIM:619724
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Myoclonic seizure, Seizure, Inability to walk, Bruxism, Bilateral tonic-cl... OMIM:615716
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton... OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... OMIM:617798
Adenylosuccinase Deficiency
Spasticity, Seizure, Inability to walk, Hemiplegia, Inappropriate laughter, Myoclonus, Gait ataxi... OMIM:103050
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia OMIM:252011
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Bilateral tonic-cloni... ORPHA:457240
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bi... OMIM:619983
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... OMIM:617282
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sign, Hy... OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... ORPHA:101077
Gm1-Gangliosidosis, Type Iii
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:230650
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit... OMIM:220120
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait ORPHA:369840
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor ORPHA:420485
Riboflavin Transporter Deficiency
Seizure, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia ORPHA:97229
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Spasticity, Oromotor apraxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:466934
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... ORPHA:98810
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... OMIM:618060
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility ORPHA:1875
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse, Joint hypermobility ORPHA:908
Dk1-Cdg
Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s... ORPHA:91131
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Pseudobulbar paralysis, Hemiparesis, Rigidity, Aggressive behavior, Spastic ataxia, A... ORPHA:199354
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self... ORPHA:363686
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus, Seizure OMIM:616158
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Hemip... ORPHA:395
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati... ORPHA:496641
Spinocerebellar Ataxia Type 13
Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysphagia, Torticol... ORPHA:98768
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Clark-Baraitser syndrome
Macroorchidism, Joint hypermobility OMIM:300602
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Seizure, Epileptic spasm, EEG with focal sharp waves, Myoclonus, EEG with polyspike wave complexe... ORPHA:284417
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased motor nerve conduction velocity, Tremor, Babinski sign, Steppage gait, Hype... OMIM:609260
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Hyperekplexia 3
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity OMIM:619057
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Gait disturbance,... OMIM:620538
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Seizure, EEG with spike-wave complexes, Dysmetria, Tremor,... ORPHA:2203
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Seizure, Cerebral palsy, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g... OMIM:618451
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Hypsarrhythmia, Dysphagia OMIM:617669
Canavan Disease
Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:271900
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function ORPHA:356
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Babinski si... OMIM:615802
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:447980
Glass Syndrome
Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequen... OMIM:612313
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:618237
Cog4-Cdg
Complex febrile seizure, Limb hypertonia, Ataxia ORPHA:263501
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Hyperekplexia 1
Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls OMIM:149400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis OMIM:312170
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysphagia OMIM:619780
Mepan Syndrome
Spasticity, Chorea, Myoclonus, Gait disturbance, Ataxia, Dysphagia, Abnormality of visual evoked ... ORPHA:508093
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Spastic paraplegia, Aggressive behavior, Seizure OMIM:620655
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Mccune-Albright Syndrome
Precocious puberty, Aneurysmal bone cyst, Increased circulating prolactin concentration, Goiter, ... ORPHA:562
Lissencephaly 9 With Complex Brainstem Malformation
Spasticity, Myoclonic seizure, Involuntary movements, Seizure, Infantile spasms, Bilateral tonic-... 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
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Clumsiness, Babins... ORPHA:284324
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... OMIM:620073
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Hypsarrhythmia, Myoclonus OMIM:619060
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia OMIM:618240
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Sialidosis Type 1
Seizure, Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, EEG abnormalit... ORPHA:812
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Dysphagia, Palatal tremor ORPHA:363722
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Spastic tetraplegia, Generalized non-motor (absence) seizure, Epileptic spasm, Bilate... ORPHA:79351
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Bilateral tonic-clonic seizure OMIM:616083
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Compulsive behaviors, Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within ... ORPHA:404440
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Dystonia 26, Myoclonic
Blepharospasm, Myoclonus, Torticollis OMIM:616398
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... OMIM:602481
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrhythmia, Hyperactivity OMIM:619239
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, EEG with temporal focal spikes, Hypertonia, Exaggerated startle respon... ORPHA:163985
Sandhoff Disease, Infantile Form
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st... ORPHA:309155
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... OMIM:616505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Ankle clonus, Babinski sign,... OMIM:615398
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteopenia, Osteoporosis ORPHA:397685
Intellectual Developmental Disorder With 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
Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct... ORPHA:79279
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Ambiguous genitalia, female, Female pseudohermaphrod... ORPHA:91
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis, Seizure, Febrile seizure (within the age range... OMIM:619179
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Interictal EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure... ORPHA:544503
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Focal impaired awareness seizure, Limb ataxia, Gait ataxia,... OMIM:117360
Glut1 Deficiency Syndrome 2
Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Tay-Sachs Disease
Typical absence seizure, Seizure, Fasciculations, Incoordination, Inability to walk, Myoclonus, D... ORPHA:845
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Chromosome 5Q12 Deletion Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615668
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Limb tremor, Torticollis, Unsteady gait ORPHA:420492
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Decreased motor nerve conduction velocity, Seizure, Intention tremor, Rigidi... OMIM:608804
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Seizure OMIM:619814
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon... OMIM:600721
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Opisthotonus, Tonic seizure, Bilatera... OMIM:615851
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Myoclonus, Loss of ambulation, ... ORPHA:466722
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Male hypogonadism, Flexion contracture, Macroorchidism OMIM:300055
Juvenile Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dys... ORPHA:93399
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Focal hyperkinetic seizure, Generalized-onset seizure, Tongue thrusting, Multifocal s... ORPHA:77299
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Fasciculations, Generalized-onset seizure, Limb ataxia, Dysmetria,... ORPHA:284289
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Seizure, Epileptic spasm, Myoclonus, Hypsarrhythmia, Vocal cord paralysis, Dysphagia ORPHA:500144
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:616078
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Multifocal epilept... OMIM:616672
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Seizure, Giant somatosensory evoked potentials, Pseud... ORPHA:268943
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I... OMIM:620224
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Tremor, Torticollis, Writer's cramp, Tor... OMIM:128100
X-Linked Cerebral Adrenoleukodystrophy
Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis, Ankle clo... ORPHA:139396
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Ankle clonus... OMIM:620423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Phenylketonuria
Lower limb spasticity, EEG abnormality, Tremor, Ataxia ORPHA:716
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Generalized myoclonic seizure, Seizure, Incoordination, Infantile spasms, ... ORPHA:480864
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Seizure, EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp w... ORPHA:79243
Peho Syndrome
Hypsarrhythmia, Undetectable visual evoked potentials, Myoclonus, Seizure OMIM:260565
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Intellectual Developmental Disorder, Autosomal Dominant 22
Bruxism, Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing OMIM:612337
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... 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
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Parkinsonism, Gait distu... OMIM:168601
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... 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
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... OMIM:302800
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Loss of ambulation, Progr... ORPHA:329308
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Rigidity, Gait disturbance, Ataxia, Decreased ... OMIM:603472
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:156200
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Seizure ORPHA:941
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal ... ORPHA:171695
Dystonia-Aphonia Syndrome
Seizure, Myoclonus, Gait disturbance, Unsteady gait, Dysphagia ORPHA:412217
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Motor stereotypy, Lower limb spasticity, Hypsarrhythmia, Clonus, ... ORPHA:447997
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dysphagia, Choreoathetosis OMIM:233910
Cog8-Cdg
Myoclonus, Seizure, Ataxia ORPHA:95428
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:466943
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Seizure, Myoclonus, Self-mutilation, Babinski sign, Aggressive behavior, Bilateral to... ORPHA:364028
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Charcot-Marie-Tooth Disease And Deafness
Gait disturbance, Steppage gait, Decreased motor nerve conduction velocity, Tremor OMIM:118300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia OMIM:614299
Optic Atrophy 11
Seizure, EEG with focal sharp waves, Stereotypical body rocking, Dysmetria, Hyperkinetic movement... OMIM:617302
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Polydipsia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic... ORPHA:369929
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali... ORPHA:314655
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Tremor, Atax... OMIM:300998
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint hypermobility, Ventricular septal defect, Atrial septal defect, Macroorchidism, Flexion con... OMIM:309520
Shashi-Pena Syndrome
Limb hypertonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:617190
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... OMIM:612953
Neuraminidase Deficiency
Dysmetria, Myoclonus, Seizure, Slurred speech OMIM:256550
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder,... ORPHA:216866
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait,... OMIM:254900
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Self-mutilation, Bilateral tonic-clonic seizure ORPHA:453510
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Gait disturbance, Hypertonia, Seizure OMIM:236270
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
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Bilateral Polymicrogyria
Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spastic hemiparesis... ORPHA:268940
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Fatigable weakness of speech muscles, Inability to walk,... ORPHA:404454
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, EEG ab... ORPHA:1675
Microcephaly, Amish Type
Myoclonus, Limb hypertonia OMIM:607196
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Seizure, Interictal EEG abnormality, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Gait ... OMIM:301310
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot... OMIM:614969
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor ORPHA:90117
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Dysphagia, Status epile... OMIM:607426
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, C... ORPHA:199351
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Progressive spastic quadriplegia, Isometric tremor, Hypsarrhythmia,... OMIM:619475
3-Methylglutaconic Aciduria Type 7
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor... ORPHA:445038
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentials, Inability t... ORPHA:52368
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
Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Aggressive behavior, Hypsarrhythmia, A... 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
Seizure, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Peroxisome Biogenesis Disorder 5B
Death in childhood, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Limb hypertonia, Hypertonia, Bilateral tonic-clonic seizure, Generaliz... OMIM:615501
Serotonin Syndrome
Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Restlessness, Agitation ORPHA:43116
Trisomy 20P
Camptodactyly of finger, Reduced bone mineral density, Cryptorchidism, Joint hypermobility, Macro... ORPHA:261318
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Death in early adulthood, Dysmetria, Tremor, Loss of ambulation, Bab... OMIM:607694
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Seizure, Decreased nerve ... ORPHA:206436
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Dpm1-Cdg
Ataxia, Spasticity, Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seiz... ORPHA:79322
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, ... OMIM:620445
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, Anorexia, EEG with burst suppress... ORPHA:79139
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Exa... ORPHA:309246
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Motor ... OMIM:619435
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Opisthotonus, Babinski sign,... OMIM:618076
Fatal Familial Insomnia
Myoclonus, Dysphagia, Ataxia OMIM:600072
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact... ORPHA:466950
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... OMIM:609270
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... OMIM:605711
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... OMIM:615530
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Seizure OMIM:614462
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Myoclonic seizure, Head-banging, Seizure, Generalized non-motor (absence) seizure, Ep... OMIM:620455
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Difficulty walking, Chorea, Babinski sign, ... ORPHA:157846
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Myoclonus, Babinski sign, Tongue thrusting, Limb hypertonia, Limb tremor, Torticol... OMIM:608643
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
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
Spasticity, Focal myoclonic seizure, Seizure, Difficulty walking, Inability to walk, Aggressive b... ORPHA:481152
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance OMIM:300957
Moyamoya Disease 6 With Or Without Achalasia
Generalized-onset seizure, Dysphagia, Hemiparesis OMIM:615750
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, Hand apraxia, Generalized-onset seizure, Difficulty walking, Inability to wa... ORPHA:280229
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Choreoathet... OMIM:616271
Alternating Hemiplegia Of Childhood
Seizure, Tetraparesis, Episodic hemiplegia, Oral-pharyngeal dysphagia, Chorea, Anorexia, Tremor, ... ORPHA:2131
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic... OMIM:615474
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Seizure, Cataplexy, Inability to walk, Epileptic spasm, Generalized tonic ... OMIM:617193
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Pica, Seizure, Generalized non-motor (absence) seizure OMIM:617360
Hatipoglu Immunodeficiency Syndrome
Slurred speech, Febrile seizure (within the age range of 3 months to 6 years) OMIM:620331
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Glucocorticoid Deficiency 2
Myoclonic seizure, Focal motor seizure, Myoclonus, Spastic tetraparesis OMIM:607398
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... ORPHA:137898
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... ORPHA:513456
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Chorea, Gait ataxia, Titubation, Dystonia, Dysphagia ORPHA:225147
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Bil... OMIM:617988
Lissencephaly Due To Tuba1A Mutation
Spasticity, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Hypertonia, Myoclonus, Seizure ORPHA:3078
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Myoclonus, EEG abnormality, Seizure OMIM:614946
Huntington Disease-Like 1
Abnormal posturing, Chorea, Gait ataxia, Dysmetria, Restlessness ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity... OMIM:620451
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Sandhoff Disease
Ataxia, Spasticity, Myoclonic seizure, Fasciculations, Bilateral tonic-clonic seizure, Exaggerate... OMIM:268800
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Self-injurious behavior, Myoclonic seizure, Gait disturbance OMIM:620469
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Infantile spasms, Myoclonus, Seizure OMIM:614261
Weaver Syndrome
Spasticity, Seizure, Generalized non-motor (absence) seizure, Polyphagia, Bilateral tonic-clonic ... OMIM:277590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Seizure, Cerebral palsy, Generalized-onset seizure, Infantile spasms, Hypsarrhythmia, Dysphagia, ... ORPHA:2148
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Seizure, Ataxia OMIM:619167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-... OMIM:620330
Hsd10 Disease, Infantile Type
Poor coordination, Seizure, Hyperkinetic movements, Loss of ambulation, Paroxysmal bursts of laug... ORPHA:391428
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Intent... ORPHA:209905
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Spas... OMIM:619297
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Oculomotor ... ORPHA:247262
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Interictal epilepti... OMIM:300243
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Delayed proximal femoral epiphyseal ossifi... ORPHA:90674
Stiff-Person Syndrome
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls 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
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:96147
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Dysphagia, Focal-onset seizu... ORPHA:258
Nmda Receptor Encephalitis
Involuntary movements, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Focal-onset seizure... ORPHA:217253
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-cl... ORPHA:423479
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Loss of ambulation, Ataxia OMIM:620089
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Broad-based gait, Typical absence seizure, Seizure, Febrile seizure (within the age range... ORPHA:268261
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Increa... ORPHA:459070
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure OMIM:618381
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... OMIM:208920
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Hyperkinetic... OMIM:612073
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Seizure, Inability to walk, Bruxism, Hyperkinetic movements, Aggressive behavior,... OMIM:617799
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon... OMIM:620070
Developmental And Epileptic Encephalopathy 95
Seizure, Inability to walk, EEG with burst suppression, Inappropriate laughter, Focal-onset seizu... OMIM:618143
Keppen-Lubinsky Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Opisthotonus, Hypertonia,... OMIM:614098
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Warburg Micro Syndrome 3
Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic... OMIM:614222
9P13 Microdeletion Syndrome
Bruxism, Attention deficit hyperactivity disorder, Myoclonus, Hand tremor ORPHA:324313
Congenital Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia ORPHA:93400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Myoclonus, Seizure ORPHA:70595
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Infantile ... OMIM:618733
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor OMIM:607734
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia OMIM:169400
Combined Oxidative Phosphorylation Deficiency 57
Myoclonus, Seizure OMIM:620167
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Niemann-Pick Disease Type C
Speech apraxia, Abnormal pyramidal sign, Ataxia, Dysphagia, Generalized-onset seizure, Chorea, In... ORPHA:646
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
EEG with generalized sharp slow waves, Generalized non-motor (absence) seizure, EEG with spike-wa... ORPHA:369837
Dyrk1A-Related Intellectual Disability Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait disturbance, Hyperac... ORPHA:464306
Eiken Syndrome
Febrile seizure (within the age range of 3 months to 6 years) OMIM:600002
Leukodystrophy, Hypomyelinating, 10
Spasticity, Seizure, Inability to walk, Hyperkinetic movements, Babinski sign OMIM:616420
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... OMIM:312080
Valinemia
Hyperkinetic movements OMIM:277100
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Tip-toe gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:620450
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Broad-based gait, Seizure OMIM:616716
Choreoacanthocytosis
Resting tremor, Hair-pulling, Loss of ambulation, Parkinsonism, Bradykinesia, Dysphagia, Socially... ORPHA:2388
Biotinidase Deficiency
Spastic paraparesis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal mot... ORPHA:79241
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Myoclonus, Seizure ORPHA:251004
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:300894
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia OMIM:618426
Whipple Disease
Ataxia, Polydipsia, Seizure, Myoclonus, Abnormal pyramidal sign, Anorexia ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Seizure OMIM:614922
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Seizure, Anorexia, Myoclonus, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, A... ORPHA:20
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Myoclonic seizure, Restlessness, Seizure, Oral-pharyngeal dysphagia, Chore... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Tremor, Death in infancy, Dystonia, Choreoathetosis OMIM:617664
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal auditory evoked potentials, Spastic paraparesis, Abnormal motor evoked poten... ORPHA:909
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Shigellosis
Anorexia, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:810
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus ORPHA:2752
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu... OMIM:614231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic move... OMIM:615356
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
East Syndrome
Polydipsia, Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tre... ORPHA:199343
Neuroblastoma, Susceptibility To, 1
Myoclonus, Ataxia OMIM:256700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Simple febrile seizure, Moto... ORPHA:464311
Aymé-Gripp Syndrome
EEG abnormality, Seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:1272
Kufor-Rakeb Syndrome
Blepharospasm, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyr... ORPHA:306674
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma 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
Spasticity, Spastic paraparesis, Seizure, Decreased nerve conduction velocity, Myoclonus, Absent ... OMIM:609136
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Difficulty walking, Gait imbalance, Aggressive behavior, Gait disturbance, Dysphagia, Bi... ORPHA:488627
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, EEG with generalized sl... ORPHA:99027
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Sialuria
Hyperkinetic movements, Attention deficit hyperactivity disorder, Seizure ORPHA:3166
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep... OMIM:301072
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Inability to walk, Myoclonus, Intenti... OMIM:208900
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... ORPHA:765
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168600
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Spastic tetraplegia, Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral ton... OMIM:620024
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Myoclonus, Clonus, Status epilepticus, Spastic tetraplegia OMIM:619055
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hyperautofluorescent macular l... OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 28
Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal atax... OMIM:618249
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, EEG abnormality, Seizure OMIM:246450
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert... OMIM:203700
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168605
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Seizure, Myoclonus, Gait ataxia, Dysmetria, Babinski sign, Progressive gait ata... OMIM:607459
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Tremor, Parkinsonism, Fr... ORPHA:329478
Molybdenum Cofactor Deficiency, Type B
Seizure, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hypertonia, Spastic tetr... OMIM:252160
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxi... ORPHA:255210
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Melas
Seizure, Abnormal central motor function, Myoclonus, Hemiparesis, Gait disturbance, EEG abnormali... ORPHA:550
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure ORPHA:99742
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Cranial hyperostosis, Chorioretinal colobo... ORPHA:744
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
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
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Immunodeficiency 23
Cortical myoclonus, Myoclonus, Ataxia OMIM:615816
De Sanctis-Cacchione Syndrome
Spasticity, Babinski sign, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Hypertonia, Chor... OMIM:278800
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... 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
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia 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
Spasticity, Myoclonic seizure, Tetraparesis, EEG with burst suppression, Epileptic spasm, Hyperki... OMIM:619124
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Intention... OMIM:610217
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Neuroblastoma
Antalgic gait, Myoclonus, Ataxia ORPHA:635
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Myoclonic spasms ORPHA:36913
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Atonic seizure, Tru... OMIM:620066
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Abnormal posturing OMIM:614857
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Seizure, Gait ataxia, Dysmetria, Motor stereotypy, Attention defic... OMIM:614756
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... OMIM:606002
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Inability to walk, Myoclonus, EEG abnormality, Unsteady gait, Focal motor ... ORPHA:3063
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Joint hypermobility OMIM:619950
Farber Disease
Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis ORPHA:333
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Bruxism, Polyphagia, Tonic seizure, Attention deficit hyperacti... OMIM:615873
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Seizure, Myoclonus, Hyperkinetic movements, Aggressive behavior, Hypertonia, Unsteady gait, Chore... ORPHA:17
Joubert Syndrome 1
Hemifacial spasm, Self-mutilation, Aggressive behavior, Oculomotor apraxia, Hyperactivity, Ataxia OMIM:213300
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Bilateral tonic-... OMIM:614947
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Convulsive status epilepticus, Spasticity, Seizure, Inability to walk, Hypertonia, Ataxia OMIM:608885
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Ethylene Glycol Poisoning
Seizure, Myoclonus, Addictive alcohol use, Ataxia, Slurred speech ORPHA:31826
Molybdenum Cofactor Deficiency, Type A
Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Insulin-Like Growth Factor I Deficiency
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity OMIM:608747
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, 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
Elevated circulating luteinizing hormone level, Decreased testicular size, Reduced bone mineral d... ORPHA:90796
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Pgm3-Cdg
Cortical myoclonus, Myoclonus, Seizure, Ataxia 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
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... ORPHA:3109
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Progressive Supranuclear Palsy
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia ORPHA:683
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Tremor, Seizure, Ataxia OMIM:610505
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizure, Hyper... OMIM:301044
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia ORPHA:99885
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... OMIM:619512
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Aspartylglucosaminuria
Joint stiffness, Macroorchidism, Abnormal cortical bone morphology, Arthritis ORPHA:93
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dy... OMIM:617675
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Spasticity, Motor stereotypy, Seizure OMIM:301040
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis OMIM:612716
Cocaine Intoxication
Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp... ORPHA:90068
Metachromatic Leukodystrophy
Decerebrate rigidity, Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Tremor, ... ORPHA:512
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Scorpion Envenomation
Seizure, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, Restlessness ORPHA:466677
Oromandibular Dystonia
Blepharospasm, Bruxism, Hyperkinetic movements, Torticollis, Dysphagia ORPHA:93958
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Spasticity, Seizure, Fasciculations, Fatigable weakness of skeletal muscle... ORPHA:284339
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Athetoid cerebr... ORPHA:522077
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Tremor, Bilateral toni... OMIM:612474
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Spasticity, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Rigidity, Hyperton... ORPHA:2636
Lathosterolosis
Myoclonus, Seizure ORPHA:46059
Leigh Syndrome
Spasticity, Involuntary movements, Seizure, Chorea, Infantile spasms, Abnormality of extrapyramid... ORPHA:506
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Abnormal female ext... ORPHA:95699
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Dysphagia, Resting tremor, Seizure ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Tongue fasciculations, Spasticity, Babinski sign, Bilatera... OMIM:252010
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Tetraplegia, Generalized myoclonic seizure, Seizure OMIM:257300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Paraparesis, Bilateral tonic-clonic seizure, Hemiparesis ORPHA:79124
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Poliomyelitis
Fasciculations, Inability to walk, Abnormal motor nerve conduction velocity, Fatigable weakness o... ORPHA:2912
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Bruxism, Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Bruxism, Typical absence seizure, Seizure ORPHA:352665
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Decreased distal sensory nerve actio... ORPHA:99956
Tick-Borne Encephalitis
Tongue fasciculations, Generalized-onset seizure, Speech apraxia, Incoordination, Tremor, Fatigab... ORPHA:297
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Seizure, Inability to walk, Hypsarrhythmia, Limb hypertonia, Bilateral tonic-clonic s... OMIM:620371
Chronic Visceral Acid Sphingomyelinase Deficiency
Attention deficit hyperactivity disorder, Apraxia, Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Microphthalmia, Syndromic 2
Aortic valve stenosis, Iris coloboma, Septate vagina, Cryptorchidism, Mitral valve prolapse, Cont... OMIM:300166
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Hyperactivity OMIM:234100
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure OMIM:261515
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abn... OMIM:234200
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Cystic Echinococcosis
Abnormal heart morphology, Abnormality of the testis size, Bone cyst, Ovarian cyst ORPHA:400
Listeriosis
Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia ORPHA:533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, In... ORPHA:438213
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Fatigable weakness ORPHA:428
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... OMIM:601104
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Lower li... ORPHA:447753
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Aspartylglucosaminuria
Pathologic fracture, Macroorchidism, Joint hypermobility OMIM:208400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Trichorhinophalangeal Syndrome, Type Ii
Hemiparesis, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:150230
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Aggressi... ORPHA:821
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Myoclonus, Tetraplegia, Seizure OMIM:618278
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Hand tremor ORPHA:424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, Seizure, Myoclonus, Enlarged flash visual evoked potentials, EEG abnormality 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, Myoclonic seizure, Violent behavior, Seizure, Gait ataxia, Bilateral tonic-clon... OMIM:280000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Spasticity, Dysphagia, Generalized non-motor (absence) seizure ORPHA:500150
Pediatric-Onset Graves Disease
Polydipsia, Tremor, Hyperkinetic movements, Polyphagia, Hyperactivity ORPHA:525731
Pseudohypoparathyroidism Type 1C
Polyphagia, Hypocalcemic seizures, Myoclonic spasms ORPHA:79444
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Focal-onset seizure, Atonic seizure OMIM:617157
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Pseudohypoparathyroidism Type 1A
Involuntary movements, Polyphagia, Myoclonic spasms, Hypocalcemic seizures, Choreoathetosis ORPHA:79443
Vici Syndrome
Postnatal growth retardation, Dysphagia, Abnormal posturing OMIM:242840
Meningioma
Seizure, Hemifacial spasm, Abnormal central motor function, Difficulty walking, Hemiparesis, Atax... ORPHA:2495
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Gait ataxia, Bilateral tonic-clonic seizure ORPHA:457359
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Gaucher Disease
Hemiplegia/hemiparesis, Tremor, Abnormality of extrapyramidal motor function, Oculomotor apraxia,... ORPHA:355
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Remnants of the hyaloid v... OMIM:620185
Ogden Syndrome
Generalized-onset seizure, Dysphagia, Hypertonia, Bilateral tonic-clonic seizure, Torticollis, Mo... OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Seizure, Hyperkinetic movements, Abnormal pyramidal sign, Hy... ORPHA:468631
Doors Syndrome
EEG abnormality, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Mowat-Wilson Syndrome
Ataxia, Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG with spike-wave co... ORPHA:2152
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal reti... ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG abnormality, Dysphagia, At... ORPHA:261537
Acrofacial Dysostosis, Cincinnati Type
Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c... OMIM:616462
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG abnormality, Dysphagia, At... ORPHA:261552
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... ORPHA:99228
Monosomy X
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... ORPHA:881
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... ORPHA:637
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Sin... OMIM:157170
Histidinemia
Hyperactivity ORPHA:2157
Neuroocular Syndrome 1
Patent foramen ovale, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens colo... OMIM:619539
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Kabuki Syndrome 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Alström Syndrome
Typical absence seizure, Incoordination, Polyphagia, Ataxia, Poor fine motor coordination 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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