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Gene: Npas4 MGI:2664186

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Npas4em1(IMPC)H HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder OMIM:607417
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Gray matter heterotopia, ... ORPHA:99802
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Gliosis, S... OMIM:614959
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm... OMIM:162350
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... OMIM:143100
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neur... OMIM:604218
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized... OMIM:234500
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, ... OMIM:607136
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu... OMIM:611721
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... ORPHA:2382
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Spas... OMIM:615924
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity, Generalized-onset seizure, Seizure OMIM:616657
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Gliosis, Fasc... OMIM:604484
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Dystonia 23
Cerebellar atrophy, Torticollis, Myoclonus, Head tremor, Cerebral cortical atrophy OMIM:614860
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Seizure, Gliosis, Apraxia, Spastic... OMIM:221820
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus OMIM:605899
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, St... ORPHA:352596
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclon... OMIM:618285
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis, Simplified gyral pattern OMIM:618328
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... ORPHA:599373
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity, Cerebel... OMIM:213200
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms OMIM:239500
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... ORPHA:263516
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... OMIM:608105
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti... OMIM:619971
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extr... OMIM:615338
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spa... OMIM:618369
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Gait ataxia, Choreo... ORPHA:225154
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy OMIM:617065
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Frontal cortical atrophy OMIM:300699
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz... ORPHA:382
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Lissencephaly, Myoclonus, Status epilepticus,... OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... OMIM:204200
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, My... OMIM:159950
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Chorea, Cerebral atrophy, Myoclonic seizure, Seizure, Hyperk... OMIM:614254
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, ... OMIM:301020
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Gliosis, Myoclonus, Apraxia, Abnormal ... OMIM:221770
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Cerebral atrophy, Myoclonic seizu... OMIM:618497
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity OMIM:613402
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Spinocerebellar Ataxia 13
Cerebellar atrophy, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ata... OMIM:605259
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Global brain atrophy OMIM:609056
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus... ORPHA:168486
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Seizure, Myoclonus, Spa... OMIM:256730
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Congenital Disorder Of Glycosylation, Type In
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Spasticity OMIM:612015
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S... OMIM:610539
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clu... ORPHA:157941
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... OMIM:619862
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurre... ORPHA:282166
Epilepsy, Progressive Myoclonic, 12
Ataxia, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure OMIM:619191
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Myoclonus, Neuronal loss in central nervous system, Cerebr... OMIM:600795
Juvenile Huntington Disease
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cer... ORPHA:248111
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Seizu... OMIM:256600
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus OMIM:261630
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Myoclonus OMIM:619303
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic... OMIM:614487
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... OMIM:617290
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:139485
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Frontotemporal cerebral atrophy, Myoclonus, S... ORPHA:391417
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... ORPHA:725
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Diaminopentanuria
Neurodegeneration, Seizure, Spasticity, Ataxia OMIM:222350
Developmental And Epileptic Encephalopathy 92
Seizure, Spasticity, Ataxia, Myoclonus OMIM:617829
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Cerebral at... OMIM:619847
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Seizure, Myoclonus, Apraxia, Cerebral cortical atrophy OMIM:618193
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... OMIM:271980
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... ORPHA:1929
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si... OMIM:308350
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Gliosis,... OMIM:612936
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Compulsive behaviors, Atte... OMIM:261600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmet... ORPHA:313772
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoathetosis, ... OMIM:618877
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Cerebral atrophy OMIM:618011
Machado-Joseph Disease
Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign,... OMIM:109150
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Seizu... ORPHA:3077
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations OMIM:608030
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... ORPHA:485350
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia ORPHA:306511
Intellectual Developmental Disorder, X-Linked 12
Tremor, Abnormality of neuronal migration, Seizure, Hyperkinetic movements, Gliosis, Spasticity OMIM:300957
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Hyperkine... ORPHA:561854
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Glios... OMIM:614946
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, H... ORPHA:289266
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Spasticity, Pachygyria OMIM:620094
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity OMIM:618225
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Bruxism OMIM:300434
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar gliosis, Cerebral atrophy, S... ORPHA:79243
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculom... ORPHA:251347
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Cerebral cortica... OMIM:618201
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus, Cerebral atrophy OMIM:619057
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... ORPHA:13
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... OMIM:616505
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure, Hyperactivity OMIM:617169
Spinocerebellar Ataxia 2
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Li... OMIM:183090
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity OMIM:617284
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, S... ORPHA:442835
Narp Syndrome
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Corticospinal tract atrophy, Myoclonic s... ORPHA:644
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Huntington Disease
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy... ORPHA:399
Lissencephaly, X-Linked, 2
Seizure, Lissencephaly, Gliosis, Spasticity, Pachygyria OMIM:300215
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Seizure, Athetosis, Myoclonus OMIM:618241
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy ORPHA:2898
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Xq25 Microduplication Syndrome
Seizure, Hyperactivity ORPHA:521258
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Global brain atrophy OMIM:168601
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, My... OMIM:618356
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria OMIM:618251
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Seizure, Gliosis, Extrapyramidal dyskinesia, Cerebral cortical atrophy OMIM:277470
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... OMIM:619467
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Spasticity, Neuronal... OMIM:616239
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Spasticity, Fasciculations OMIM:614808
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive mannerisms, Paroxys... OMIM:618718
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Neuronal loss in central nervous system, ... ORPHA:683
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor ORPHA:363717
Leukoencephalopathy With Vanishing White Matter 1
Seizure, Spasticity, Gliosis OMIM:603896
Peho Syndrome
Cerebellar atrophy, Pachygyria, Seizure, Myoclonus, Neuronal loss in central nervous system, Poly... OMIM:260565
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Seizure, Neurodegeneration, Gliosis, Brain atrophy OMIM:214150
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bil... OMIM:617193
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Focal-onset ... ORPHA:168491
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... OMIM:607822
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Leigh Syndrome
Ataxia, Hepatocellular necrosis, Seizure, Gliosis, Spasticity OMIM:256000
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Occipital cortical atrophy, Focal impa... ORPHA:411986
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Athetosis, Myoclonus OMIM:617235
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... OMIM:617672
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia OMIM:312170
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... ORPHA:401866
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Seizure, Hyperactivity, Aggressive behavior OMIM:612716
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Seizure, Ne... OMIM:618321
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Typical absence seizure... ORPHA:845
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Spastic tetraparesis, Simplified gyral pattern, Seizure, Hypertonia, Lissencepha... ORPHA:284417
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... OMIM:616672
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Intellectual Developmental Disorder, X-Linked 107
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Subependymal Nodular Heterotopia
Focal-onset seizure, Abnormality of neuronal migration, Gray matter heterotopia, Seizure, Focal a... ORPHA:101030
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Atypical Rett Syndrome
Involuntary movements, Infantile spasms, Tremor, Limb myoclonus, Gait ataxia, Pill-rolling tremor... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... OMIM:617854
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... OMIM:300558
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity OMIM:300979
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Polymicrogyria, Myoclonus OMIM:300673
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Myoclonus OMIM:619609
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal... ORPHA:363722
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy OMIM:619060
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... OMIM:604377
Riboflavin Transporter Deficiency
Ataxia, Tremor, Seizure, Myoclonus, Cerebral cortical atrophy ORPHA:97229
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... ORPHA:53351
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Spastic tetraplegia, Opisthotonus, Seiz... OMIM:220120
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia OMIM:250620
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
D-Glyceric Aciduria
Chorea, Seizure, Myoclonus, Brain atrophy, Spasticity ORPHA:941
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Glo... OMIM:619738
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Pyridoxal Phosphate-Responsive Seizures
Seizure, Hypertonia, Status epilepticus, Myoclonus, Global brain atrophy ORPHA:79096
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gliosis, Spasticity ORPHA:88619
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb... ORPHA:1942
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G... OMIM:615157
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, Hyperactivity, Infantile spasms, Tonic seizure OMIM:619239
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr... ORPHA:79264
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Macrogyria, Titubation, Gliosis ORPHA:280210
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Brady... ORPHA:98768
Valinemia
Hyperkinetic movements OMIM:277100
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Torticollis, Limb tremor, Myoclonus, Head tremor, Cerebral cortical atrophy ORPHA:420492
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Simplified gyral pattern, Seizure, Myoclonus, Cerebral ... OMIM:617669
Intellectual Developmental Disorder, Autosomal Recessive 13
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... ORPHA:171695
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Mepan Syndrome
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Myoclonus, Spasticity ORPHA:508093
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, B... OMIM:601104
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral corti... ORPHA:1020
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Spastic tetraplegia, Seizure, Gliosis ORPHA:3240
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Axonal degeneration, Neurodegeneration, Myoclo... ORPHA:478029
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, ... ORPHA:445038
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Dysphagia ORPHA:500180
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Seizure, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Adenylosuccinase Deficiency
Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, ... OMIM:103050
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hypertonia,... OMIM:614969
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy OMIM:607485
Cog8-Cdg
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem ORPHA:95428
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Hand tremor, Head tremor OMIM:619724
Microcephaly-Capillary Malformation Syndrome
Infantile spasms, Spastic tetraparesis, Simplified gyral pattern, Cerebral atrophy, Seizure, Myoc... OMIM:614261
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attention deficit hyperactivi... OMIM:620242
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-on... ORPHA:501
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:618218
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Hyperkinetic movements, Infantile spasms OMIM:618374
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Statu... OMIM:301072
Fragile X Syndrome
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... OMIM:248500
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Parkinsonism with favorable respon... ORPHA:411602
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Seizure, Neur... OMIM:300894
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hyp... OMIM:616271
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Hypertonia, Myoclonus, Brain atrophy, Spasticity ORPHA:3078
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Ch... ORPHA:506
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Seizure, A... ORPHA:449291
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Myoclonus ORPHA:163921
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Gliosis, Myoc... OMIM:252150
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degeneration, Bradykines... OMIM:609454
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Seizure ORPHA:309246
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... OMIM:613839
Microcephaly, Amish Type
Myoclonus, Limb hypertonia OMIM:607196
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus, Cerebral atrophy OMIM:614462
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... OMIM:607426
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... ORPHA:163681
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Limb hypertonia OMIM:233910
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Tongue fasciculations, Myoclonus, Pachygyria, Cerebral cortical atrophy OMIM:614922
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy ORPHA:500144
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Infantile spasms, Patent ductus arteriosus, Babinski sign, Myoclonic seizure, Opi... OMIM:618076
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthotonus, Ankle clonus, Se... ORPHA:206436
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... ORPHA:314655
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Generaliz... OMIM:619229
Neuroferritinopathy
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blep... ORPHA:157846
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Hypertonia, Hyperkinetic movements, Cerebral cortical atrophy OMIM:236270
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... ORPHA:1934
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Generalized myoclonic seizure, Infantile spasms, Action tremor, Chorea, Gener... ORPHA:404454
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus ORPHA:812
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... OMIM:608643
Fatal Familial Insomnia
Neuronal loss in central nervous system, Ataxia, Myoclonus OMIM:600072
Japanese Encephalitis
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... ORPHA:79139
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... ORPHA:93399
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz... ORPHA:139396
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Perisylvian polymicrogyria, Spastic... ORPHA:268943
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic... OMIM:616973
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity ORPHA:364028
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Hepatic periportal necrosis, Seizure, Gliosis ORPHA:26791
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic seizure... OMIM:300912
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Seizure, Myoclonus, Cerebral atrophy ORPHA:412217
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal py... ORPHA:909
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus, Cerebral atrophy OMIM:620167
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myocl... OMIM:254900
Angelman Syndrome
Ataxia, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypical absence seizur... ORPHA:72
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Seizure, Gliosis, Po... OMIM:261515
Kleefstra Syndrome Due To A Point Mutation
Seizure, Gliosis ORPHA:261652
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetosis, Hyperkinetic mov... OMIM:615273
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Pachygyria, Gliosis OMIM:231680
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Seizure, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Atrophy/Degeneration involving the spinal cord, Myoclonus, Gait ataxia ORPHA:70595
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus ORPHA:43116
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Hypertonia... OMIM:618426
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Infantile spasms, Cerebral atrophy, Seizure, Athetosis, Hyperkinetic m... OMIM:612073
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Cerebral atrophy, Seizure, Hyperkinetic movements, Spasticity, Cerebral cortical a... OMIM:616420
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Congenital Sialidosis Type 2
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Seizure, Gliosis OMIM:618222
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Seizure, Ataxia, Myoclonus ORPHA:98794
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... ORPHA:646
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity OMIM:620089
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Patent ductus arteriosus, Upper limb spasticity, Gliosis, Generalized myoc... OMIM:300868
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Myoclonus, Brain atrophy ORPHA:251004
Farber Disease
Infantile spasms, Paraparesis, Seizure, Myoclonus, Brain atrophy, Spasticity ORPHA:333
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi... ORPHA:217260
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Brain atrophy OMIM:617302
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia ORPHA:2752
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Oculomotor apraxia ORPHA:247262
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Seizure, Progressive gait ataxia, Atrophy/Degenera... OMIM:607459
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Ap... ORPHA:209905
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus OMIM:619167
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure OMIM:620047
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem... ORPHA:550
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements,... OMIM:300243
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements ORPHA:289522
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Histidinemia
Hyperactivity ORPHA:2157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Seizure, Myoclonus, Spastic parapares... OMIM:609136
Whipple Disease
Seizure, Abnormal pyramidal sign, Myoclonus, Ataxia ORPHA:3452
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Cerebral atrophy, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic mo... ORPHA:17
Argininemia
Irritability, Hyperactivity, Seizure, Anorexia OMIM:207800
Ataxia-Telangiectasia
Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar ataxia, Dysdiado... OMIM:208900
Immunodeficiency 23
Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc... ORPHA:447997
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Hypertonia, Gliosis, Ge... ORPHA:268261
Autoimmune Hypoparathyroidism
Myoclonic spasms, Hypocalcemic seizures ORPHA:36913
Cockayne Syndrome
Cerebellar atrophy, Ataxia, Action tremor, Cerebral atrophy, Seizure, Progressive gait ataxia, Hy... ORPHA:191
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Seizure, Myoclonus, Spasticity ORPHA:20
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Gliosis, Spasticity OMIM:124000
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb... OMIM:619124
Ethylene Glycol Poisoning
Ataxia, Slurred speech, Renal tubular epithelial necrosis, Seizure, Myoclonus ORPHA:31826
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Pgm3-Cdg
Seizure, Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Lathosterolosis
Seizure, Myoclonus, Cerebellar cortical atrophy ORPHA:46059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tetraplegia, Hepatocellular necrosis, Seizure, Myoclonus, Brain atrophy OMIM:618278
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Chorea, Cerebral atrophy, Seizure, Athetosis,... OMIM:615356
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, Opisthot... ORPHA:217253
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Tremor, Simplified gyral pattern, Dysmetria, Seizure, Gliosis,... OMIM:220111
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Gliosis, Tonic seizure OMIM:615873
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements ORPHA:93958
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Vocal cord par... OMIM:617799
X-Linked Intellectual Disability, Snyder Type
Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus ORPHA:3063
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Abnormal pyramidal sign, Simplified ... ORPHA:468631
Diets-Jongmans Syndrome
Seizure, Gliosis OMIM:618846
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus ORPHA:466677
Cutis Laxa, Autosomal Recessive, Type Iid
Seizure, Gliosis OMIM:617403
Joubert Syndrome 1
Oculomotor apraxia, Hemifacial spasm, Ataxia OMIM:213300
Listeriosis
Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus ORPHA:533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Seizure, Myoclonus, Spasticity, Pachygyria, Polymicrogyria, Type II lissencephaly OMIM:253280
Gabriele-De Vries Syndrome
Tremor, Gliosis ORPHA:506358
Pseudohypoparathyroidism Type 1B
Myoclonic spasms, Hypocalcemic seizures ORPHA:94089
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Sialuria
Seizure, Hyperkinetic movements ORPHA:3166
Pseudohypoparathyroidism Type 1A
Choreoathetosis, Myoclonic spasms, Involuntary movements, Hypocalcemic seizures ORPHA:79443
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements ORPHA:525731
Pseudohypoparathyroidism Type 1C
Myoclonic spasms, Hypocalcemic seizures ORPHA:79444
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Involuntary movements, Patent ductus arteriosus, S... ORPHA:438213
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Autosomal Dominant Hypocalcemia
Cortical myoclonus ORPHA:428
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy,... ORPHA:2388
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... ORPHA:297
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy ORPHA:522077
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seizure ORPHA:2495
Doors Syndrome
Polymicrogyria, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277

Histopathology

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

There is no histopathology data for Npas4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Npas4.

No publications found that use IMPC mice or data for Npas4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Npas4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Npas4em2(IMPC)H Exon Deletion Mice
Npas4tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Npas4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npas4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npas4em1(IMPC)H Exon Deletion Mice

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