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Gene: Ap3b2 MGI:1100869

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Gene Summary

Name:
adaptor-related protein complex 3, beta 2 subunit
Synonyms:
beta3B,  Naptb

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
tremors Ap3b2em1(IMPC)H HOM Early adult 6.60×10-07
abnormal locomotor behavior Ap3b2em1(IMPC)H HOM Early adult 5.46×10-06
abnormal gait Ap3b2em1(IMPC)H HOM Early adult 1.26×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Ap3b2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ap3b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... ORPHA:442835
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Hypsarrhythmia, Status epilepticus, Seizure OMIM:617276

The table below shows human diseases predicted to be associated to Ap3b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme... OMIM:615127
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... OMIM:117100
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, Scissor gait, Spasticity OMIM:615685
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
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
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
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 Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera... OMIM:615006
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal... OMIM:615400
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
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
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... OMIM:618357
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil... OMIM:617113
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:619639
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
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
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Slurred speech ORPHA:98766
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Schizophrenia 15
Hyperactivity OMIM:613950
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Bilateral tonic-cloni... OMIM:616187
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu... ORPHA:163721
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure OMIM:607417
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... ORPHA:725
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
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
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
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
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
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Agitation OMIM:617171
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Hyperactivity, Dystonia, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti... OMIM:619157
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Aggressive behavior, Hyperactivi... ORPHA:382
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Seizure, Hyperactivity ORPHA:356996
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... OMIM:616346
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, Bilateral tonic-clonic seizure, ... OMIM:608636
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E... OMIM:609446
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Aggressive behavior, Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... OMIM:617935
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... OMIM:616409
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
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
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Choreoathetosis, Familial Inverted
Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity OMIM:118750
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Aggressive behavior, Hyperactivity, Bi... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Dystonia, Status epilepticus OMIM:618924
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo... OMIM:619605
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei... OMIM:617904
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure OMIM:309530
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic stat... OMIM:611726
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater... OMIM:616139
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG with ... OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Absence seizure with... OMIM:618587
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Epilepsy, Progressive Myoclonic, 12
Attention deficit hyperactivity disorder, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Rigidity ORPHA:401849
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Focal clonic seizure, Tonic seizu... ORPHA:140927
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus... OMIM:614018
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Difficulty walking, Dysmetria, Progressive gait ataxia, Clumsiness,... ORPHA:284332
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... ORPHA:79137
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Epilepsy, Familial Adult Myoclonic, 2
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:607876
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure OMIM:612621
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Stereotyp... OMIM:618917
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seizure, Bil... OMIM:617106
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Recurrent hand flapping, Dysphagia, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:617862
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Focal-onset seizure, Tremor, Bilate... ORPHA:330050
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Bruxism, Myoclonus, Stereotypical hand wringing, Ton... OMIM:618497
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... ORPHA:268947
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:620540
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of ... ORPHA:263516
Dystonia 22, Juvenile-Onset
Generalized dystonia, Laryngeal dystonia, Torticollis, Bilateral tonic-clonic seizure, Oromandibu... OMIM:620453
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Convulsive status epilepticus, Stereotypical hand wringing, Dystonia, Fo... OMIM:618760
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:618090
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H... OMIM:620145
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyperactivi... OMIM:616421
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Seizure, Abnormality of so... ORPHA:320401
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... OMIM:618856
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiadochokinesis OMIM:615386
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Hearing impairment, Myoclonus, Bilateral tonic-clonic seizure, Multifocal epilepti... OMIM:609056
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisi... ORPHA:208447
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni... OMIM:617711
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure OMIM:616230
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Hearing impairment, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizu... OMIM:619701
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... OMIM:271980
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Conductive hearing impairment, S... OMIM:617976
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615362
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizur... OMIM:619725
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Bilateral tonic-clonic seizure, Dystonia, Generalized myocloni... OMIM:617836
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor, Aggres... OMIM:612736
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... OMIM:617145
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ... OMIM:619913
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculomotor apraxia, Unsteady gait, T... ORPHA:453521
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis OMIM:616291
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Progressive gait a... ORPHA:284324
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera... OMIM:604317
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Focal-onset seizure OMIM:619301
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus OMIM:239500
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Status epilepticus, Bilateral tonic-clonic seizure, Hearing impairment OMIM:617082
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:226750
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance ORPHA:276435
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure ORPHA:53583
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Abnormal pinna morphology, Hypsarrhythmia, Bilateral ... OMIM:615859
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Focal-onset seizure OMIM:619302
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
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614322
Glycine Encephalopathy 1
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Hartnup Disorder
Generalized tonic seizure, Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:234500
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Developmental And Epileptic Encephalopathy 37
Myoclonus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Multifocal seizures, Choreoa... OMIM:616981
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Optic nerve hypoplasia ORPHA:250972
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic-clonic ... ORPHA:352582
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity ORPHA:100988
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:618012
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Difficulty walking, Gait ataxia, Frequent falls, Intention tremor, Poor fine mo... ORPHA:512260
Foxg1 Syndrome
Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure, Stereotypical hand wringing, Paroxysma... ORPHA:561854
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:301020
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Athetosis, D... OMIM:617493
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Statu... OMIM:613970
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Continuous spike... ORPHA:1929
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ... OMIM:616127
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s... OMIM:617290
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Myoclonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Bilat... OMIM:617810
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Recurrent hand flapping, A... OMIM:617600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Truncal ataxia, Progress... OMIM:607346
Peho-Like Syndrome
Optic atrophy, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617507
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, EEG with focal slow activity, Multifocal epileptiform discharges,... ORPHA:209370
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizu... OMIM:617166
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Bilateral to... ORPHA:2590
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Bilateral tonic... ORPHA:275864
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoc... ORPHA:485350
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:301058
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Hyperactivity, Seizure OMIM:609924
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Large earlobe, Seizure OMIM:620317
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance ORPHA:101077
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl... OMIM:619854
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Limb dystonia, Hyperactivity, Tremor OMIM:620270
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Status epil... OMIM:615538
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Tremor, Hyperactivity, Seizure OMIM:300983
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Hyperactivity, Bilateral t... OMIM:300558
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, EEG with burst suppression, Generalized tonic sei... OMIM:612164
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... OMIM:617225
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Noctur... ORPHA:98784
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Alpers-Huttenlocher Syndrome
Choreoathetosis, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud... ORPHA:457205
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Optic atrophy, Myoclonus, Seizure OMIM:204200
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... OMIM:615530
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Paraparesis, Tremor, Ataxia ORPHA:99014
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, A... OMIM:610042
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Seizure OMIM:248510
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr... ORPHA:93952
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactivity, ... OMIM:618718
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... OMIM:609270
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor... ORPHA:504476
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... OMIM:618010
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Dystonia, Dysphagia, Generalized myoclonic seizure OMIM:614487
Oxoglutarate Dehydrogenase Deficiency
Dystonia, Bilateral tonic-clonic seizure OMIM:203740
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic ... OMIM:616211
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, P... OMIM:616281
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Optic atrophy, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Epileptic spasm, Recurrent hand flapping, Opisthotonus, Tonic seizure, Attenti... OMIM:619580
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Dk1-Cdg
Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s... ORPHA:91131
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Babinski sign, ... OMIM:302800
Brain Small Vessel Disease 2