Gene Summary

Name:
neuronal PAS domain protein 4
Synonyms:
Nxf,  LE-PAS,  Npas4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Npas4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Npas4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 2
Seizure, Attention deficit hyperactivity disorder OMIM:607417
Mental Retardation, Autosomal Dominant 45
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Developmental And Epileptic Encephalopathy 56
Seizure, Ataxia, Status epilepticus, Broad-based gait, Anxiety, Attention deficit hyperactivity d... OMIM:617665
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity, Anxiety OMIM:617796
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Aggressive behavior, Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Gait ... OMIM:618687
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Infantile spasms, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety OMIM:619031
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity, Aggressive behavior OMIM:615493
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity OMIM:300830
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Developmental And Epileptic Encephalopathy 43
Seizure, Hyperactivity, Ataxia OMIM:617113
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Aggressive behavior ORPHA:356996
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Hyperactivity, Inability to walk, Irritability OMIM:616657
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Impulsivit... OMIM:301008
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, C... OMIM:600143
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Im... ORPHA:101039
Hemimegalencephaly
Abnormal neuron morphology, Focal tonic seizure, Myoclonus, Gliosis, Focal motor seizure, Hemipar... ORPHA:99802
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:204300
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic movements, Spasti... OMIM:616981
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia, Upper motor neuron dysf... ORPHA:95434
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor OMIM:616187
Developmental And Epileptic Encephalopathy 14
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Status epilepticus, Spasti... OMIM:614959
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Myoclonus, Seizure, Spasticity, Cerebral cortical atrophy OMIM:617065
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, Hyperactivity, Atonic seiz... ORPHA:2382
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder OMIM:617787
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... OMIM:615362
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior, Bilateral tonic... OMIM:619639
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia OMIM:618876
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia OMIM:612736
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal motor function,... OMIM:604218
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Distal 7Q11.23 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Aggressive behavior, Bipolar affective disorder ORPHA:254351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal d... OMIM:105550
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Anxiety, Depression OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Degeneration of anterior ... OMIM:604484
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... ORPHA:98818
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Myoclonus, Seizure, Tremor, Ataxia, Tetraparesis, Spasti... OMIM:615924
Spinocerebellar Ataxia 17
Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous system, Myoclon... OMIM:607136
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus OMIM:208700
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Seizure, Tremor, Generalized-onset seizure, Tongue fas... OMIM:159950
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Immunodeficiency 8
Hyperactivity OMIM:615401
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Seizure, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor OMIM:615127
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Combined Saposin Deficiency
Babinski sign, Neuronal loss in central nervous system, Myoclonus, Fasciculations, Hyperkinetic m... OMIM:611721
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity OMIM:300271
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Myoclonus, Seizure, Hypertonia, Brain atrophy OMIM:617290
Myoclonus, Familial, 1
Ataxia, Myoclonus, Frequent falls OMIM:614937
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central nervous system, Glios... OMIM:614498
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Dystonia 23
Cerebellar atrophy, Torticollis, Myoclonus, Head tremor, Cerebral cortical atrophy OMIM:614860
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Seizure, Hypertonia, Spasticity OMIM:225753
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign OMIM:125370
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Cerebellar verm... ORPHA:363710
Developmental And Epileptic Encephalopathy 69
Myoclonus, Spastic tetraplegia, Corpus callosum atrophy, Status epilepticus, Hyperkinetic movemen... OMIM:618285
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Myoclonus, Seizure, Hyperkinetic movements, Cerebral atrophy OMIM:618497
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis,... ORPHA:352596
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Aggressive behavior, Seizure, Broad-... OMIM:619157
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Myoclonus, Seizure, Polymicrogyria, Hyperkinetic movements, Spasticity, Cerebral atrophy OMIM:614254
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal ... ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Apraxia, Spasticity OMIM:221820
Mental Retardation, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Tremor, Ataxia, Spa... ORPHA:79262
Hyperprolinemia, Type I
Aggressive behavior, Seizure, Hyperactivity, Status epilepticus, Ataxia OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Gliosis, Seizure, Di... OMIM:614946
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent lipopigment,... ORPHA:79263
Deafness, Congenital, And Familial Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus OMIM:220300
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, Cogwheel rigidity, Astrocyto... ORPHA:225154
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Seizure, Hyperactivity, Inability to walk, Generalized myoclonic sei... OMIM:618090
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Caudate atrophy, Myoclonus, Gliosis, Seizure, Spasticity, Apraxia, Cerebral atroph... OMIM:221770
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior... ORPHA:382
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Seizure, Pachygyria, Status epilepticus, Polymicrogyria, Lissencep... OMIM:617507
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign OMIM:612016
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticus, Cerebra... OMIM:615338
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Neuronal loss in central nervous system, Myoclonus, Stereotypy, Astrocyt... OMIM:600795
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204200
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myoclonus, Seizure, Ataxia, Spasticity, Generalized myoclonic seizure OMIM:545000
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Emotional lability, Anxiety, Gait atax... ORPHA:71517
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Depression, Focal hemifacial cloni... ORPHA:1945
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Myoclonus, Gait ataxia OMIM:616540
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Seizure, Spastic... OMIM:612936
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Seizure, A... ORPHA:71277
Developmental And Epileptic Encephalopathy 1
Tonic seizure, Choreoathetosis, Global brain atrophy, Focal motor seizure, Spastic tetraparesis, ... OMIM:308350
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Seizure, Ataxia, Spasticity OMIM:606777
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia, Bilateral tonic-... OMIM:619028
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor, Focal-onset seizure OMIM:608105
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Generalized non-motor (absence) seizure OMIM:614018
Juvenile Huntington Disease
Dystonia, Myoclonus, Bradykinesia, Seizure, Hyperactivity, Progressive cerebellar ataxia, Ataxia,... ORPHA:248111
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:86909
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Global brain atrophy, Myoclonus, Status epilepticus OMIM:609056
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Seizure, Pachygyri... ORPHA:168486
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Myoclonus, Seizure, Tremor, Hypertonia OMIM:261630
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis, Stereotypy OMIM:172700
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Choreoathetosis... OMIM:619317
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity, Anxiety, Impulsivity OMIM:616977
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, Spasticity, Cerebral ... OMIM:256730
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Chorea, Myoclonus, Ataxia, Spasticity OMIM:617282
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... OMIM:271980
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Early Myoclonic Encephalopathy
Infantile spasms, Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seizure with eyelid ... ORPHA:1935
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor, Seizure, Clonic seizure, Bilateral tonic-clonic seizure with focal o... OMIM:610539
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Central nervous system degeneration, Chorea, Spastic hemiparesis, Myoc... ORPHA:282166
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Phenylketonuria
Aggressive behavior, Self-mutilation, Seizure, Hyperactivity, Irritability, Anxiety, Attention de... OMIM:261600
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Global brain atrophy, Gliosis, Abnormality of extrapyramidal motor function, ... OMIM:236792
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Generalized-onset seizure, Acti... OMIM:254900
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Rasmussen Subacute Encephalitis
Hemidystonia, Generalized convulsive status epilepticus, Focal impaired awareness seizure, Focal ... ORPHA:1929
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... OMIM:602099
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis OMIM:123400
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... ORPHA:254343
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomo... OMIM:614487
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Seizure, Progressive cerebellar ataxia, Tremor, Abnormal pyramidal... ORPHA:139485
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Gliosis... ORPHA:157941
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Bilateral generalized polymicrogyria, Ch... ORPHA:178469
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Myoclonus, Cerebral cortical atrophy, Spasticity OMIM:617669
Hsd10 Disease
Rigidity, Choreoathetosis, Myoclonus, Seizure, Tremor, Ataxia, Frontotemporal cerebral atrophy, S... ORPHA:391417
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Seizure, Hyperactivi... ORPHA:3077
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Myoclonus OMIM:619303
Developmental And Epileptic Encephalopathy 92
Seizure, Ataxia, Myoclonus, Spasticity OMIM:617829
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyskinesia, Hyp... ORPHA:98810
Benign Familial Neonatal Epilepsy
Clonus, Limb myoclonus, Focal clonic seizure, Focal tonic seizure, Status epilepticus, Focal auto... ORPHA:1949
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis, Hemiparesis OMIM:613002
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Progressive ga... ORPHA:97355
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Ataxia, Myoclonus, Brain atrophy OMIM:618225
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Seizure, Hyperactivity, Generalized-onset seizure, Focal-onset seizure, Depression, Epi... ORPHA:88616
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Hypertonia, Spasticity, Cerebral atrophy OMIM:618426
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Anxiety ORPHA:521258
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Gliosis, Hypertonia, Spasticity, Cerebral atrophy OMIM:615095
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Anxiety OMIM:300979
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Caudate atrophy, Myoclonus, Seizure, Apraxia, Cerebral cortical atrophy OMIM:618193
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cerebellar atrophy, Dysmetria, Myoclonus, Intention tremor, Seizure, Ataxia, Hyper... OMIM:618356
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Spastic ... OMIM:256600
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Stereotypy, Pachygy... ORPHA:561854
Familial Infantile Myoclonic Epilepsy
Clumsiness, Simple febrile seizure, Cerebellar atrophy, Limb myoclonus, Bilateral tonic-clonic se... ORPHA:352582
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Diaminopentanuria
Seizure, Ataxia, Spasticity, Neurodegeneration OMIM:222350
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Seizure, Tremor, Hypertonia,... OMIM:618877
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Cerebral atrophy OMIM:618011
Coffin-Siris Syndrome 8
Seizure, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:618362
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Spastic diplegia OMIM:619065
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Ocu... ORPHA:313772
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Self-injurious behavior, Focal tonic seizure, A... ORPHA:485350
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Congenital Disorder Of Glycosylation, Type In
Seizure, Ataxia, Myoclonus, Spasticity OMIM:612015
Machado-Joseph Disease
Babinski sign, Cerebellar atrophy, Rigidity, Gliosis, Abnormality of extrapyramidal motor functio... OMIM:109150
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus OMIM:300699
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Parkinsonism, Progressive spastic paraplegia ORPHA:306511
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Seizure, Cerebral cortical atrophy OMIM:277470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Atypical Juvenile Parkinsonism
Involuntary movements, Rigidity, Myoclonus, Bradykinesia, Seizure, Resting tremor, Brain atrophy,... ORPHA:391411
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Caudate atrophy, Neuronal loss in central nervous system, Myoclonus, Sei... ORPHA:363400
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Cerebral cortical atrophy, Palat... OMIM:113610
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:289266
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Continuous Spikes And Waves During Sleep
Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:725
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Seizure, Hyperactivity, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked 104
Seizure, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-mutilati... OMIM:615516
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... OMIM:105400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extrapyramidal... ORPHA:13
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Spinocerebellar Ataxia, X-Linked 3
Cerebellar atrophy, Head titubation, Dysmetria, Neuronal loss in central nervous system, Gliosis,... OMIM:301790
Bilateral Generalized Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Paroxysmal dyskinesia,... ORPHA:208447
Hyperglycinemia, Lactic Acidosis, And Seizures
Seizure, Myoclonus, Spastic tetraplegia, Cerebral atrophy OMIM:614462
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Spastic tetraplegia, Seizure, Tetraplegia, Hypertonia OMIM:608033
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Seizure, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder OMIM:301013
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Oculomotor ap... ORPHA:251347
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Gliosis, Stereotypy, Seizure, Tremor, Hype... ORPHA:457240
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gliosis, Seizure, Tremor, Hyperkinetic movements, Spasticity OMIM:300957
Cln5 Disease
Dysmetria, Aggressive behavior, Seizure, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ge... ORPHA:228360
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor function, Br... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity, Cerebral atrophy OMIM:619057
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Depression OMIM:619467
Developmental And Epileptic Encephalopathy 49
Seizure, Myoclonus, Spasticity OMIM:617281
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Huntington Disease
Clumsiness, Involuntary movements, Clonus, Babinski sign, Rigidity, Caudate atrophy, Chorea, Myoc... ORPHA:399
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Seizure,... OMIM:616239
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Developmental And Epileptic Encephalopathy 68
Clonus, Myoclonus, Exaggerated startle response, Status epilepticus, Spasticity, Cerebral cortica... OMIM:618201
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Myoclonus, Intention tremor, Tr... OMIM:616505
Pyruvate Dehydrogenase E1-Alpha Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Cerebellar gliosis, Gliosis, Basal ganglia glio... ORPHA:79243
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Narp Syndrome
Babinski sign, Myoclonic spasms, Corticospinal tract atrophy, Progressive gait ataxia, Seizure, A... ORPHA:644
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Seizure, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Cerebellar atrophy, Rigidity, Chorea, Neurodegeneration, Abnormality of extrapyrami... OMIM:617672
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Infantile spasms, Tongue thrusting, Seizure, Tremor, Stere... ORPHA:3095
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Seizure, Myoclonus OMIM:618251
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy ORPHA:2898
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure,... ORPHA:168491
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Babinski sign, Myoclonus, Spastic dysarthria, Ataxia, Spastic diplegia, H... ORPHA:401866
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Lissencephaly, X-Linked, 2
Gliosis, Seizure, Pachygyria, Spasticity, Lissencephaly OMIM:300215
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Visually-induced s... ORPHA:139431
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Ataxia, Dysmetria, Myoclonus OMIM:250620
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Stereotypy, Atonic seizure, Occipi... ORPHA:411986
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Gliosis, Astro... OMIM:203700
Dystonia 28, Childhood-Onset
Torticollis, Spasticity, Myoclonus, Retrocollis OMIM:617284
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Seizure, Tremor, Abnormality of coor... ORPHA:442835
Familial Dyskinesia And Facial Myokymia
Chorea, Resting tremor, Myoclonus, Limb hypertonia ORPHA:324588
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Seizure, Tremor, Hype... OMIM:606693
Progressive Supranuclear Palsy
Rigidity, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Tremor, Blepharospasm, ... ORPHA:683
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Neurodegeneration, Gliosis, Seizure, Ataxia, Cerebral atrophy OMIM:618321
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Ataxia, ... ORPHA:276198
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Status epilepticus, Generalized-onset seizure, Self-biting OMIM:618314
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Spasticity OMIM:614299
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Seizure, Pachygyria, Poly... OMIM:260565
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Seizure, Tongue fasciculations, Abnormal pyramidal sign... ORPHA:99
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Seizure, Hyperactivity, Inability to walk OMIM:618718
Cerebrooculofacioskeletal Syndrome 1
Seizure, Gliosis OMIM:214150
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Generalized... OMIM:300558
Leigh Syndrome
Hepatocellular necrosis, Gliosis, Seizure, Ataxia, Spasticity OMIM:256000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Upper limb spasticity, Bilateral tonic-clonic seizure, Cataplexy, Atrophy/Deg... OMIM:617193
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity, Lethargy OMIM:274270
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Pseudobulbar paralysis, Gliosis, Ataxia, Corpus callosum atrophy, Spasticity OMIM:169500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Opisthotonus, Tonic seizure, Infantile spasms, Myoclonic seizure, Myoclonus, ... OMIM:615851
Alzheimer Disease 3
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Spastic tetrapar... OMIM:607822
Thyrocerebroretinal Syndrome
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:274240
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Leukoencephalopathy With Vanishing White Matter
Seizure, Gliosis, Spasticity OMIM:603896
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Limb myoclonus, Seizure, Polymicrogyria, Focal aware seizure, ... ORPHA:101030
Chromosome 22Q13 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Bipolar affective disorder OMIM:615538
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, Myoclonus, Polymicrogyria, Rigidity OMIM:300673
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Simplified gyral pattern, Cerebral atrophy OMIM:619609
D-Glyceric Aciduria
Opisthotonus, Myoclonus, Spastic tetraplegia, Seizure, Cerebral cortical atrophy OMIM:220120
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... OMIM:615491
Riboflavin Transporter Deficiency
Myoclonus, Seizure, Ataxia, Tremor, Cerebral cortical atrophy ORPHA:97229
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Seizure, Oculomotor apraxia, Tremor, Eyelid myoclonus, Incoordination, A... OMIM:618060
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Myoclonus, Epileptic spasm, Cerebral atrophy OMIM:619060
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... ORPHA:53351
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Seizure, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity OMIM:300434
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, Focal-onset seizure OMIM:610042
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Myoclonus, Seizure, Ataxia, Spasticity OMIM:252011
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure w... ORPHA:1942
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... OMIM:137440
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesi... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 27
Opisthotonus, Chorea, Myoclonus, Status epilepticus, Tetraparesis, Cerebral atrophy OMIM:616672
Clark-Baraitser Syndrome
Seizure, Hyperactivity, Aggressive behavior OMIM:617752
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Myoclonus, Simplified gyral pattern, Seizure, Spastic tetraparesis, Hypertonia, Lissencephaly, Ep... ORPHA:284417
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Cerebellar atrophy, Typical absence seizure, Frequent falls, ... ORPHA:845
D-Glyceric Aciduria
Chorea, Myoclonus, Seizure, Brain atrophy, Spasticity ORPHA:941
Pyridoxal Phosphate-Responsive Seizures
Global brain atrophy, Myoclonus, Seizure, Status epilepticus, Hypertonia ORPHA:79096
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coor... ORPHA:79264
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Seizure, Progressive c... ORPHA:101
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Repetitive compulsive behavior, Apraxia, Parkin... OMIM:607485
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Gliosis, Degeneration of anterior horn cells OMIM:118301
Pontocerebellar Hypoplasia, Type 7
Myoclonus, Seizure, Oculomotor apraxia, Cerebral atrophy, Spastic paraplegia OMIM:614969
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure, Cerebral atrophy OMIM:613839
Parkinson Disease 1, Autosomal Dominant
Rigidity, Myoclonus, Gliosis, Bradykinesia, Resting tremor, Parkinsonism OMIM:168601
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Schindler Disease, Type I
Seizure, Myoclonus, Spasticity OMIM:609241
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Hereditary Hyperekplexia
Rigidity, Myoclonus, Fasciculations, Seizure, Ataxia, Hypertonia, Spasticity ORPHA:3197
Ck Syndrome
Seizure, Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Spasticity, Abnormal pyramidal ... ORPHA:79279
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Nocturnal seizures, Suicidal ideation, Anxie... ORPHA:98784
Valinemia
Hyperkinetic movements OMIM:277100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Gliosis, Spastic tetraplegia, Seizure, Diffuse cerebral atrophy ORPHA:3240
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Seizure, Oculomotor apraxia, Hypertonia, Ataxia, Apraxia, Parkinsonism, Cerebral corti... ORPHA:1020
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Seizure, Ataxia, Gliosis, Tremor OMIM:220111
Gaucher Disease, Type Iii
Ataxia, Generalized myoclonic seizure, Myoclonus, Spastic paraparesis OMIM:231000
Familial Acute Necrotizing Encephalopathy
Rigidity, Gliosis, Spastic tetraplegia, Seizure, Hypertonia, Spasticity ORPHA:88619
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Cerebellar atrophy, Rigidity, Myoclonus, Seizure OMIM:618241
Ck Syndrome
Seizure, Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Nipah Virus Disease
Seizure, Myoclonus, Tremor ORPHA:99825
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Intention tremor, Spasticity, Sub... ORPHA:171695
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Opisthotonus, Gliosis, Spastic tetraplegia, Seizure, Hypertonia, Cerebral atrophy OMIM:252160
Mitochondrial Complex I Deficiency, Nuclear Type 18
Seizure, Myoclonus OMIM:618240
Spinocerebellar Ataxia Type 13
Clumsiness, Cerebellar atrophy, Torticollis, Myoclonus, Bradykinesia, Seizure, Titubation, Gait a... ORPHA:98768
Neurodevelopmental Disorder With Involuntary Movements
Athetosis, Involuntary movements, Chorea, Seizure, Hyperkinetic movements, Spasticity, Cerebral a... OMIM:617493
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, ... ORPHA:445038
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure, Poor coordination, Global brain atrophy, Diffus... ORPHA:478029
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Torticollis, Myoclonus, Limb tremor, Head tremor, Cerebral cortical atrophy ORPHA:420492
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Hyperactivity, Aggressive behavior OMIM:615286
Hyperekplexia 1
Nocturnal seizures, Frequent falls, Myoclonus, Exaggerated startle response, Seizure, Hypertonia OMIM:149400
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Lower limb spasticity, Ataxia, Macrogyria, Titubation ORPHA:280210
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus, Seizure OMIM:617235
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Cog8-Cdg
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Seizure, Ataxia ORPHA:95428
Amyotrophic Lateral Sclerosis 8
Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fascicul... OMIM:608627
Combined Oxidative Phosphorylation Deficiency 11
Myoclonus, Seizure, Pachygyria, Tongue fasciculations, Cerebral cortical atrophy OMIM:614922
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Lafora Disease
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Seizure, Ataxia, Bil... ORPHA:501
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, Hyperactivity, Infantile spasms, Tonic seizure OMIM:619239
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Myoclonus, Spasticity, Tetraparesis, Focal-onset seizure OMIM:618972
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Myoclonus, Status epilepticus, Generalized-onset seizure, Focal-onset seizure ORPHA:83601
Adenylosuccinase Deficiency
Cerebellar atrophy, Opisthotonus, Myoclonus, Seizure, Spasticity, Cerebral atrophy, Gait ataxia OMIM:103050
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Neuronal loss in central nervous system, Gliosis, Seizure, C... OMIM:602613
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Happy demeanor, ... OMIM:614104
Microcephaly-Capillary Malformation Syndrome
Seizure, Myoclonus, Spastic tetraparesis, Cerebral atrophy OMIM:614261
Severe X-Linked Intellectual Disability, Gustavson Type
Myoclonus, Seizure, Hypertonia, Brain atrophy, Spasticity ORPHA:3078
Developmental And Epileptic Encephalopathy 72
Seizure, Hyperkinetic movements, Cerebral atrophy OMIM:618374
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function ORPHA:356
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myoclonus, Br... ORPHA:199351
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Cerebellar atrophy, Gliosis, Corpus callosum atrophy, Spasticity, Abnormal pyramid... OMIM:248500
Epilepsy, Progressive Myoclonic, 10
Myoclonus, Spastic tetraplegia, Spastic ataxia, Seizure, Progressive cerebellar ataxia, Ataxia, S... OMIM:616640
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Seizure, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Nocturnal seizures, Global brain atrophy, Myoclonus, Lower limb spasticity... OMIM:619229
Optic Atrophy 11
Dysmetria, Ataxia, Brain atrophy, Hyperkinetic movements OMIM:617302
Hereditary Late-Onset Parkinson Disease
Rigidity, Frequent falls, Gliosis, Bradykinesia, Parkinsonism with favorable response to dopamine... ORPHA:411602
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Opisthotonus, Gliosis, Spastic tetraplegia, Seizure, Spastic tetraparesis, Cere... OMIM:252150
Autosomal Recessive Spastic Paraplegia Type 77
Babinski sign, Weakness due to upper motor neuron dysfunction, Scissor gait, Myoclonus, Bradykine... ORPHA:466722
Leigh Syndrome
Involuntary movements, Athetosis, Cerebellar atrophy, Infantile spasms, Choreoathetosis, Chorea, ... ORPHA:506
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Myoclonus ORPHA:163921
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Focal tonic seizure, Myoclonus, Speech apraxia, Seizure, Bilateral tonic-clonic seizure with gene... ORPHA:314655
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Neuroferritinopathy
Involuntary movements, Babinski sign, Caudate atrophy, Chorea, Bradykinesia, Resting tremor, Park... ORPHA:157846
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Seizure, Hyperactivity, Ataxia ORPHA:52503
Supranuclear Palsy, Progressive, 2
Postural tremor, Rigidity, Eyelid apraxia, Neuronal loss in central nervous system, Gliosis, Gran... OMIM:609454
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Myoclonus, Seizure, Spasticity, Epileptic spasm, Cerebral cortical atrophy ORPHA:500144
Fatal Familial Insomnia
Ataxia, Neuronal loss in central nervous system, Myoclonus OMIM:600072
Infantile Krabbe Disease
Opisthotonus, Myoclonus, Lower limb spasticity, Seizure, Decerebrate rigidity, Spastic diplegia, ... ORPHA:206436
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Rigidity, Choreoathetosis, Chorea, Neurodegeneration, Bradykinesia, Tremor, Ataxia... OMIM:606159
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Seizure, Tremor, Hyperkinetic movements OMIM:233910
Supranuclear Palsy, Progressive, 1
Rigidity, Eyelid apraxia, Neuronal loss in central nervous system, Gliosis, Granulovacuolar degen... OMIM:601104
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Seizure, Hyperactivity, Ataxia ORPHA:228402
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Irritability, Anxiety, Atte... ORPHA:449291
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Bilateral toni... ORPHA:1934
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Limb myoclonus, Dysmetria, Global brain atrophy, Lower limb spasticity, Hemiparesi... ORPHA:139396
Juvenile Sialidosis Type 2
Dysmetria, Myoclonus, Lower limb spasticity, Seizure, Ataxia, Spasticity, Generalized myoclonic s... ORPHA:93399
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Seizure, Hyperactivity, Dysdiadochokinesis, Emotional lability... OMIM:610217
Sialidosis Type 1
Myoclonus, Seizure, Ataxia, Tremor, Slurred speech ORPHA:812
Neuraminidase Deficiency
Seizure, Dysmetria, Slurred speech, Myoclonus OMIM:256550
9P13 Microdeletion Syndrome
Hand tremor, Myoclonus ORPHA:324313
Japanese Encephalitis
Paralysis, Opisthotonus, Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic s... ORPHA:79139
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Seizure, Hyperactivity, Bilateral tonic-cloni... ORPHA:163681
Hsd10 Disease, Infantile Type
Poor coordination, Choreoathetosis, Neurodegeneration, Seizure, Spastic tetraparesis, Spastic dip... ORPHA:391428
Angelman Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus, Tongue thrusting, Seizure, Tremor, S... ORPHA:72
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Hyperphosphatasia With Mental Retardation Syndrome 6
Seizure, Hyperactivity, Aggressive behavior OMIM:616809
Unilateral Polymicrogyria
Involuntary movements, Perisylvian polymicrogyria, Infantile spasms, Pseudobulbar paralysis, Myoc... ORPHA:268943
Chromosome 2Q37 Deletion Syndrome
Seizure, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:600430
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Fasciculations, Vocal cord paresis OMIM:619574
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Status epilepticus, Spasticity ORPHA:364028
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Seizure, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unst... ORPHA:35069
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Cerebellar atrophy, Infantile spasms, Focal tonic seizure, Focal emotional seizure wit... ORPHA:404454
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Seizure, Hyperactivity, Ataxia, Depression, Bipolar affective disorder OMIM:601853
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure, Gliosis, Hepatic periportal necrosis ORPHA:26791
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Seizure, Hyperactivity, Gait ataxia OMIM:300354
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Aprax... OMIM:254780
Fragile X Syndrome
Seizure, Hyperactivity OMIM:300624
Developmental And Epileptic Encephalopathy 2
Infantile spasms, Myoclonus, Multifocal seizures, Stereotypy, Seizure, Generalized-onset seizure,... OMIM:300672
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Myoclonus, Tongue thrusting, Seizure, Tremor, Ataxia, Recurrent hand flapping ORPHA:98794
Cerebrotendinous Xanthomatosis
Parkinsonism, Babinski sign, Cerebellar atrophy, Global brain atrophy, Gliosis, Abnormality of ex... ORPHA:909
Pseudohypoparathyroidism Type 2
Myoclonic spasms, Hypocalcemic seizures ORPHA:94090
Dystonia-Aphonia Syndrome
Seizure, Cerebellar atrophy, Myoclonus, Cerebral atrophy ORPHA:412217
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Myoclonus, Spasticity OMIM:246450
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Gliosis, Hepatic periportal necrosis OMIM:231680
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Seizure, Myoclonus, Atrophy/Degeneration involving the spinal cord, Progressive gait ataxia OMIM:607459
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Myoclonus, Gait ataxia, Atrophy/Degeneration involving the spinal cord ORPHA:70595
Serotonin Syndrome
Clonus, Rigidity, Myoclonus, Seizure, Tremor, Hypertonia ORPHA:43116
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Truncal ataxia, Cerebral atrophy ORPHA:369847
Stiff-Person Syndrome
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Exaggerated startle response OMIM:184850
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Seizure, Hyperkinetic movements, Spasticity, Cerebral atrophy, Cerebral cortical a... OMIM:616420
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Kleefstra Syndrome Due To A Point Mutation
Seizure, Gliosis ORPHA:261652
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Mucopolysaccharidosis, Type Iiib
Seizure, Hyperactivity, Aggressive behavior OMIM:252920
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Anxiety OMIM:618430
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gliosis, Seizure, Corpus callosum atrophy, Po... OMIM:261515
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Congenital Sialidosis Type 2
Dysmetria, Myoclonus, Seizure, Ataxia, Spasticity ORPHA:93400
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Frequent falls, Chorea, Myoclonus, Progressive gait ataxia, Speech apraxia... ORPHA:646
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Self-biting, Aggressive behavior... OMIM:300912
Smith-Magenis Syndrome
Seizure, Hyperactivity, Self-mutilation, Head-banging OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Seizure, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Myoclonus, Brain atrophy ORPHA:251004
Chromosome 10Q26 Deletion Syndrome
Seizure, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
Mend Syndrome
Seizure, Hyperactivity OMIM:300960
Brain-Lung-Thyroid Syndrome
Clumsiness, Involuntary movements, Choreoathetosis, Chorea, Myoclonus, Intention tremor, Ataxia, ... ORPHA:209905
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Glass Syndrome
Happy demeanor, Aggressive behavior, Seizure, Hyperactivity, Broad-based gait OMIM:612313
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Seizure, Hyperactivity OMIM:618089
Farber Disease
Infantile spasms, Myoclonus, Paraparesis, Seizure, Brain atrophy, Spasticity ORPHA:333
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Upper limb spasticity, Neuronal loss in central nervous system, Gliosis, Lower limb spasticity, S... OMIM:300868
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, Abnormal oligodendroglia morphology, Dysmetria, A... ORPHA:217260
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Oculomotor apraxia, Ataxia ORPHA:247262
Lamb-Shaffer Syndrome
Seizure, Hyperactivity, Ataxia ORPHA:530983
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Myoclonus, Spasticity, Focal seizure with eyelid myoclonia ORPHA:2752
Melas
Bilateral tonic-clonic seizure, Myoclonus, Hemiparesis, Seizure, Ataxia, Brain atrophy, Abnormal ... ORPHA:550
47,Xyy Syndrome
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Seizure, Hyperactivity, Emotional lability, Low frustration tolerance OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration tolerance, Generalized no... ORPHA:363686
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus OMIM:619167
Myopathy With Extrapyramidal Signs
Dystonia, Seizure, Hyperactivity, Status epilepticus, Ataxia, Difficulty walking OMIM:615673
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome