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Gene: Bsn MGI:1277955

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
bassoon
Synonyms:
presynaptic cytomatrix protein

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Bsn 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 Bsn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... ORPHA:99802
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Waddling... ORPHA:2590
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, Typical absen... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Vertigo, Truncal ataxia, Myoclon... OMIM:613855
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, EEG abnormality, Seizure, Myoclonus, Loss of ambulation OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Seizure, Abnormal nervous system electrophysiology, Myoclonus, Retinal degeneration OMIM:204500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Sensorineural hearing impairment, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... OMIM:545000
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Seizure, Hypertonia, Chorioretinal coloboma, Hearing impa... ORPHA:2732
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait at... OMIM:605259
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Optic atrophy, Abnormal pyramidal sign, ... ORPHA:352596
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D... OMIM:256731
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ... OMIM:618285
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Seizure, Myoclonus, Difficulty walking, Dystonia, Spa... OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, EEG abnormality, Seizure,... OMIM:606777
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, EEG with focal sharp... ORPHA:2382
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Intention tremor ORPHA:53372
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Macular degeneration, Seizure, EEG abnormality, Myoclonus, Spasticity, Ret... OMIM:256730
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... ORPHA:86909
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, EEG abnormality, Seizure, Hypertonia, Statu... ORPHA:71277
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Optic atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapy... OMIM:615338
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ... ORPHA:1935
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Hypsarrhythmia, Status epilepticus, Myoclonus, Lis... OMIM:617507
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Congenital Disorder Of Glycosylation, Type In
Ataxia, Sensorineural hearing impairment, Seizure, Myoclonus, Spasticity OMIM:612015
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, S... ORPHA:391417
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hea... ORPHA:139485
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy, Myoclonus OMIM:619303
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Optic atrophy, Macular degeneration, Seizure, Abnor... OMIM:204200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, EEG abnormality... OMIM:614254
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclonus, Spasticity OMIM:617065
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Interictal epileptiform activity OMIM:300699
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Err... OMIM:619971
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dys... ORPHA:79263
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... ORPHA:254881
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Sensorineural hearing impairment, Myoclonus, Dysmetria OMIM:618251
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Optic atrophy, Limb... OMIM:614322
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... ORPHA:1949
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... ORPHA:644
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Tonic seizure, Hypsa... OMIM:615859
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar a... ORPHA:3327
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Myoclonus, ... OMIM:159950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure, EEG abnormality, Pac... OMIM:614115
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthr... ORPHA:313772
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, Truncal ataxia OMIM:608636
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... ORPHA:225154
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (... OMIM:617810
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Vertigo, Slurred speech, EEG with focal spikes, Fo... ORPHA:140927
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Vertigo, Paroxysmal vertigo, Seizu... OMIM:618924
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Myoclonus, Hearing impairment OMIM:619057
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with generalized slow activity grade 4, Retinal degeneration, Ataxia, Typi... ORPHA:168491
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Seizure, Progressive hearing impairment, Abnorma... ORPHA:97229
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ... OMIM:607136
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... OMIM:613722
Thyrocerebroretinal Syndrome
Ataxia, Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus OMIM:274240
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 1
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, EEG with burst suppression, Foca... OMIM:308350
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Vertigo, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ... ORPHA:276198
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Hearing impairment, P... OMIM:617082
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Retinopathy, Spastic ga... ORPHA:306511
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypsarrhythmia, Opisthotonus, Seiz... ORPHA:13
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo... OMIM:617290
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, EEG abnormality, Seizure, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... ORPHA:163921
Foxg1 Syndrome
Optic disc hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Ina... ORPHA:561854
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Vertigo, Abnormal pyramidal sign, Optic atrophy, Seizure, Abnormality of ... ORPHA:79279
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ... ORPHA:3095
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure OMIM:610003
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, In... OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Gait disturbance, Myoclonus, Loss... OMIM:618241
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cereb... ORPHA:248111
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesi... OMIM:618356
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Gen... ORPHA:411986
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure, Large earlobe,... OMIM:620317
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Condu... OMIM:617976
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Lissencephaly 3
Agyria, Bilateral tonic-clonic seizure, Ataxia, Periventricular laminar heterotopia, Spastic tetr... OMIM:611603
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure... ORPHA:208441
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Optic atrophy, Simplified gyral pattern, Hypoplastic op... OMIM:617669
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... ORPHA:401866
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Optic atrophy, Pigmentary retinopathy, Seizure, Myoclonus, Trunc... OMIM:252011
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... ORPHA:289266
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... OMIM:266100
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia... OMIM:617836
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Sensorineural hearing impairment, O... OMIM:617854
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Myoclonus, Tetraparesi... OMIM:618972
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Hearing impairment, Impaired d... OMIM:616688
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, Limb myoclonus, Abnormality of neuronal migratio... ORPHA:101030
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Hypsarrhythmia OMIM:618011
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Slurred sp... ORPHA:812
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Myoclonus, Intractable, Neonatal
Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus OMIM:617235
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... OMIM:619605
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity, Pachygyria OMIM:620094
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, EEG with burst suppression... OMIM:614498
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Simplified gyral... OMIM:604317
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hea... OMIM:614559
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, EEG abnormality, Seizure, Gait disturbance, Myoclonus, Apraxia, Abnormal upper mot... OMIM:221770
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, EEG abnormality,... OMIM:271980
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor... ORPHA:79264
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic... OMIM:220120
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Loss of ambulation, Seizure, Myoclonus, ... ORPHA:93399
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... OMIM:617493
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Abnormality of extrapyramidal mot... ORPHA:204
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait disturbance, Myoclonu... ORPHA:508093
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ... OMIM:616672
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... ORPHA:501
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Distal sensory impairment, ... OMIM:616505
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Retinal dystrophy, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:464282
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, Infantile sensorineural hear... ORPHA:3129
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... ORPHA:251347
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Epileptic spasm, Spastic tetraparesis, EEG with focal sharp wa... ORPHA:284417
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga... OMIM:618090
Pontocerebellar Hypoplasia, Type 4
Seizure, Spasticity, Hypertonia, Myoclonus OMIM:225753
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, EEG abnormality, Seizure, Myoclonus, Polymicrogyria OMIM:300673
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, S... ORPHA:529665
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Schindler Disease, Type I
Seizure, Spasticity, Optic atrophy, Myoclonus OMIM:609241
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Sensorineural hearing impairment, Babinski sign, Spastic tetraplegia, Spa... OMIM:619847
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei... OMIM:618012
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... ORPHA:209370
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
D-Glyceric Aciduria
Chorea, Seizure, Myoclonus, Spasticity, Hearing impairment ORPHA:941
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Seizure, Myoclonus, Pachygyria, Polymicrogyria OMIM:260565
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Simpl... OMIM:619301
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Optic atrophy, Spastic tetraplegia, Dystonia, Hearing impairment OMIM:618237
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... ORPHA:457205
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Optic atr... OMIM:615851
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Macrotia, Hyperkinetic movements ORPHA:397933
Huntington Disease
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clum... ORPHA:399
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... ORPHA:845
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharge... OMIM:271900
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Glycine Encephalopathy 1
Seizure, Myoclonus OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... OMIM:613970
Neuraminidase Deficiency
Sensorineural hearing impairment, Slurred speech, Dysmetria, Seizure, Myoclonus, Cherry red spot ... OMIM:256550
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Ba... OMIM:618170
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Optic atrophy, Vocal cord paralysis, Hypsarrhythmia, Seizure, Increased cup-to-d... ORPHA:500144
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Simpl... OMIM:619302
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Pyridoxal Phosphate-Responsive Seizures
EEG with burst suppression, Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus ORPHA:79096
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Hyperkinetic ... OMIM:618218
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Nipah Virus Disease
Tremor, Seizure, Vertigo, Myoclonus ORPHA:99825
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Simplified gyral pattern, Myo... OMIM:619877
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration ORPHA:3233
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Optic atrophy, Seizure, Hypertonia, Myoclonus, Spasticity, Macrotia, P... ORPHA:3078
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, EEG with focal sharp waves... OMIM:617302
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Ataxia, Myoclonus, Hearing impairment OMIM:560000
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct... OMIM:607822
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Ataxia, Optic atrophy, Dysmetria, Seizure, Yellow/white lesions of the r... ORPHA:93400
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Spasti... ORPHA:363722
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Microcephaly-Capillary Malformation Syndrome
Infantile spasms, Spastic tetraparesis, Optic atrophy, Simplified gyral pattern, Seizure, Myoclon... OMIM:614261
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, My... OMIM:614969
Alexander Disease Type I
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor ORPHA:363717
Microcephaly, Amish Type
Hypoplasia of the fovea, Optic atrophy, Myoclonus, Limb hypertonia OMIM:607196
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Sensorineural hearing impairment, Seizure, Status epilepticus, Myoclonus, Loss of... OMIM:607426
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus, Hypsarrhythmia OMIM:619060
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Perisylvian polymicrogyria, Spastic... ORPHA:268943
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia OMIM:600795
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Hypsarrhythmia, Gait... OMIM:618321
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Pachygyria, EEG with burst suppression, Hypsarrhythmia, EEG abnormality,... ORPHA:1934
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... ORPHA:139396
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Ataxia, Posteriorly rotated ears, Generalized ... OMIM:619229
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Gait ... ORPHA:70595
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Seizure, Hyperkinetic... OMIM:620089
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... OMIM:301058
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges,... OMIM:272300
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Infantile spasms, Hypsarrhythmia OMIM:618374
Combined Oxidative Phosphorylation Deficiency 57
Bull's eye maculopathy, Sensorineural hearing impairment, Seizure, Myoclonus, Dystonia OMIM:620167
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebell... ORPHA:101112
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Adenylosuccinase Deficiency
Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Low-set ears, Hemiplegia, Spast... OMIM:103050
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity OMIM:618201
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon... ORPHA:356
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degeneration, Myoclonus OMIM:619780
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Chronic Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... ORPHA:529808
Acute Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... ORPHA:529799
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Hypsarr... OMIM:618076
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
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
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Inabi... OMIM:618917
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... OMIM:619911
Japanese Encephalitis
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res... ORPHA:79139
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig... ORPHA:93952
Parkinsonian-Pyramidal Syndrome
Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Abnormal ... ORPHA:171695
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Broad-based gait, Ataxia, Impaired distal proprioception, Retinal p... OMIM:607459
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Uplifted earlobe, Babinski sign, Seizure, Sta... ORPHA:364028
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Optic a... ORPHA:72
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Generalized non-motor (absence) seizure... OMIM:616281
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG abnormality, Seizure,... ORPHA:98794
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Inabilit... OMIM:612073
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, EEG abnormality, Seizure, Myoclonus, Hearing impairment OMIM:614946
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:618856
Intellectual Developmental Disorder, X-Linked 12
Tremor, Sensorineural hearing impairment, Abnormality of neuronal migration, Seizure, Hyperkineti... OMIM:300957
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Seizur... ORPHA:391428
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Cln3 Disease
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Bull's eye maculopathy, Ataxia,... ORPHA:228346
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Episodic Ataxia Type 7
Episodic ataxia, Vertigo, Hyperkinetic movements, Tinnitus ORPHA:209970
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Seizure, Gait di... ORPHA:909
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... OMIM:619827
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Aganglionic megacolon, Bilateral tonic-clonic seizure, Ataxia,... ORPHA:247262
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Seizure, Broad-based gait, Myoclonus OMIM:616158
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Seizure, Polymicrogyria ORPHA:250972
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Optic atrophy, Seizur... ORPHA:90321
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... ORPHA:157846
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... ORPHA:268940
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, EEG abnormality, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod ... ORPHA:404454
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
EEG abnormality, Spasticity, Seizure, Myoclonus OMIM:246450
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... ORPHA:480864
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Seizure, Myoclonus, Dystonia OMIM:619167
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Myoclonus, Tongue fasciculations, Pachygyria, Hearing impairment OMIM:614922
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Fatal Familial Insomnia
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus OMIM:600072
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary move... ORPHA:98784
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Abnormal autonomic nervous s... ORPHA:478029
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythm... OMIM:619983
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Seizure, Hyperkinetic movements, Low-set ears, Hypoplasia of th... OMIM:616420
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Microtriplication 11Q24.1
Speech apraxia, Attached earlobe, Posteriorly rotated ears, Seizure, Hyperkinetic movements, Hear... ORPHA:289522
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first decade, Seizure, Hy... OMIM:300243
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Melas
Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Sen... ORPHA:550
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Sensorineural hearing impairment... ORPHA:209905
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Myoclonus, Conductive hear... OMIM:615816
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... ORPHA:445038
Cog8-Cdg
Seizure, Ataxia, Myoclonus ORPHA:95428
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Vertigo, Focal motor seizure, Dysmetria, Gait ataxia, Hem... OMIM:602481
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Hearing impairment, Tonic seizure, Cloni... OMIM:619580
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Dyston... OMIM:616271
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Myoclonus, Low-set ears, Oculomotor apraxia, Cherry red spot... ORPHA:2752
Lissencephaly Due To Tuba1A Mutation
Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Infantile spasms, Bilateral tonic-clonic s... ORPHA:171680
Dystonia-Aphonia Syndrome
Generalized dystonia, Unsteady gait, Seizure, Gait disturbance, Myoclonus, Oromandibular dystonia ORPHA:412217
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu... OMIM:618325
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Ort... ORPHA:217253
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... OMIM:301072
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Abnormality of the autonomic nervous sy... ORPHA:43116
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:300607
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Periventricular heter... OMIM:618733
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Bilateral tonic-clonic seizure, Clonus, S... ORPHA:423479
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... ORPHA:646
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Sensorineural hearing impair... ORPHA:457351
Arthrogryposis, Distal, Type 2A
Seizure, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Myoclonus ORPHA:1352
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Facial pa... ORPHA:297
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Galloway-Mowat Syndrome 10
Simplified gyral pattern, Myoclonus OMIM:619609
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Hand tremor, Myoclonus, Low-set ears, Recurrent otitis ... ORPHA:324313
Valinemia
Hyperkinetic movements OMIM:277100
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypsarrhythmia, ... ORPHA:447997
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... ORPHA:683
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus, Horner syndrome OMIM:256700
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetos... OMIM:615273
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Asymmetry of the ears, EE... OMIM:619124
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Seizure, Dy... ORPHA:79330
Orofaciodigital Syndrome Iii
Myoclonus, Low-set ears OMIM:258850
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Infantile spasms, Sensorineural hearing... ORPHA:79241
Pgm3-Cdg
Mild neurosensory hearing impairment, Ataxia, Sensorineural hearing impairment, Seizure, Myoclonu... ORPHA:443811
Cockayne Syndrome A
Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrease... OMIM:216400
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, EEG abnormali... OMIM:615356
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Seizure, Myoclonus, Spasticity ORPHA:20
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Fatigable weakness, Paresthesia, Cortical myoclonus ORPHA:428
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Im... OMIM:268800
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... OMIM:254900
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements OMIM:236270
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... ORPHA:369929
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal retinal morphology on macular OCT, Seizure, Myoclonus, Macular dystr... ORPHA:251004
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Retinal dystrophy, Ataxia, Optic disc coloboma, Retinal dysp... OMIM:213300
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Fatigable weakness of skeletal muscles, Optic atrophy, Seizure, Hypertonia... ORPHA:284339
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Thickened helices, Asymmetry of the ears, Inability to walk, Cupped ear, U... ORPHA:3063
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy... ORPHA:395
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Type II lissencephaly, Optic atrophy, EEG abnormality, Hypoplasia of the retina,... OMIM:253280
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Sensorineural hearing impairment, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinet... ORPHA:17
Leigh Syndrome
Ataxia, Involuntary movements, Infantile spasms, Chorea, Sensorineural hearing impairment, Optic ... ORPHA:506
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Ocular albinism, EEG abnormality, Low-set ears, Dystonia, Macroti... OMIM:617050
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:36913
Whipple Disease
Seizure, Abnormal pyramidal sign, Myoclonus, Ataxia ORPHA:3452
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Sensorineural hearing impairmen... ORPHA:255210
Farber Disease
Infantile spasms, Paraparesis, Macular degeneration, Seizure, Myoclonus, Cherry red spot of the m... ORPHA:333
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Hypocalcemic seizures, Paresthesia, Myoclonic spasms ORPHA:94090
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Vertigo, Myoclonus, Limb myoclonus ORPHA:1183
Lathosterolosis
Seizure, Myoclonus, Hearing impairment ORPHA:46059
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Babinski sign, Optic at... OMIM:278800
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... OMIM:252160
Deafness, Unilateral
Unilateral deafness OMIM:125000
Mend Syndrome
Low-set ears, Seizure, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity OMIM:618426
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, Hyperkinetic... ORPHA:2912
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Slurred speech, Seizure, Myoclonus ORPHA:31826
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus, Hearing impairment ORPHA:533
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... OMIM:203700
Sialuria
Seizure, Hyperkinetic movements, Low-set ears ORPHA:3166
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms OMIM:252150
Meningioma
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Focal-onset... ORPHA:2495
Pseudohypoparathyroidism Type 1A
Involuntary movements, Sensorineural hearing impairment, Choreoathetosis, Paresthesia, Myoclonic ... ORPHA:79443
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... ORPHA:93958
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Periventricular het... ORPHA:468631
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Vocal cord para... OMIM:617799
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis, EEG abnormality, Hyperkinetic moveme... ORPHA:522077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary m... ORPHA:438213
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus ORPHA:466677
Pseudohypoparathyroidism Type 1B
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:94089
Doors Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Focal impaired awareness seizure,... ORPHA:79500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Myoclonus, Tetraplegia, Dystonia OMIM:618278
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:79444
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements ORPHA:525731

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 Bsn

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 Bsn.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Bsntm42644(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bsntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bsntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bsntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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