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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
Hearing impairment, Abnormal speech discrimination 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 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
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
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural 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
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... OMIM:613608
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive 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
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... OMIM:608105
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... ORPHA:95434
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... OMIM:616187
Hemimegalencephaly
Epileptic spasm, Gray matter heterotopia, Seizure, Optic atrophy, EEG with polyspike wave complex... ORPHA:99802
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... OMIM:601068
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Seizure, Typical absence seizure, Inability to ... ORPHA:2590
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... OMIM:618587
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Choreoathetosis... OMIM:609056
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Retinal degeneration, Myoclonus, Ataxia, Abnormal nervous system electrophysiology OMIM:204500
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Sensorineural hearing impairment, Falls, Dysdiadochokinesis, Truncal... ORPHA:363710
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... OMIM:616230
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Sensorineural hearing impairment, Seizure, Myoclonus, Generalized myoclonic seizure, ... OMIM:545000
Mitochondrial Complex I Deficiency, Nuclear Type 12
Rod-cone dystrophy, Gait imbalance, Seizure, Myoclonus, Generalized myoclonic seizure, Choreoathe... OMIM:301020
Olivopontocerebellar Atrophy-Deafness Syndrome
Seizure, Optic atrophy, EEG abnormality, Ataxia, Chorioretinal coloboma, Hypertonia, Hearing impa... ORPHA:2732
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Seizure, EEG abnormality OMIM:600143
Infantile Spasms Syndrome
Hypsarrhythmia, Myoclonus, Infantile spasms ORPHA:3451
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic... OMIM:616139
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function... ORPHA:352596
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Retinal degeneration, Myoclonus, Clumsiness, Ataxia, Dysmetria, Abno... OMIM:256731
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, Op... ORPHA:263516
Developmental And Epileptic Encephalopathy 69
EEG abnormality, Spastic tetraplegia, Inability to walk, Hypsarrhythmia, Myoclonus, Status epilep... OMIM:618285
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, EEG abnormality, Inability to walk, Myoclonus, Ataxia, Difficulty walking, D... OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Hereditary Geniospasm
Chin myoclonus, Intention tremor, EEG abnormality ORPHA:53372
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... OMIM:619317
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... OMIM:616540
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, EEG abnormality, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosi... OMIM:606777
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Focal-onset seizure, Focal clonic seizure, Interictal ... ORPHA:725
Developmental And Epileptic Encephalopathy 54
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... OMIM:617391
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Myoclonus, Choreoat... OMIM:618497
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Optic atrophy, EEG abnormality, Retinal degeneration, Macular degeneration, ... OMIM:256730
Lennox-Gastaut Syndrome
Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized my... ORPHA:2382
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Torticollis, Ataxia, Babins... OMIM:607317
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, EEG abnormality, Hemiparesis, Apraxia, My... ORPHA:71277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... OMIM:619964
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Early Myoclonic Encephalopathy
Focal motor seizure, EEG abnormality, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Myoclo... ORPHA:1935
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Atonic seizure, Tremor OMIM:612437
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Combined Saposin Deficiency
Generalized clonic seizure, Optic atrophy, Myoclonus, Babinski sign, Hyperkinetic movements, Fasc... OMIM:611721
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epile... OMIM:615338
Hsd10 Disease
Seizure, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic p... ORPHA:391417
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Myoclonus, Abnormality of extrapyramida... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Peho-Like Syndrome
Optic atrophy, Hypsarrhythmia, Myoclonus, Status epilepticus, Lissencephaly, Bilateral tonic-clon... OMIM:617507
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Congenital Disorder Of Glycosylation, Type In
Spasticity, Sensorineural hearing impairment, Seizure, Myoclonus, Ataxia OMIM:612015
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Myoclo... ORPHA:86909
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... OMIM:605407
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia, Hea... ORPHA:139485
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Limb dystonia, Myoclonus, Torticollis, Torsion dystonia, Oroman... OMIM:602629
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Optic atrophy, Inability to walk, Hypsarrhythmia, Generalized myoclonic-atonic seizur... OMIM:619701
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Focal hemiclonic seiz... OMIM:616981
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus, Optic atrophy OMIM:619303
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... OMIM:615006
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Inability to walk, Myoclonus, Oc... OMIM:614254
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Seizure, Optic atrophy, Parkinsonism, Retinal degeneration, Macular degenerat... OMIM:204200
Developmental And Epileptic Encephalopathy 49
Spasticity, Macrotia, Seizure, Optic atrophy, EEG abnormality, Myoclonus OMIM:617281
Dystonia 23
Writer's cramp, Limb dystonia, Myoclonus, Torticollis, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Babinski sign, Bilateral t... OMIM:614322
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Generalized-onset seizure, EEG with generalized slow activi... ORPHA:79263
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, EEG with burst suppression, Myoclonus, Ataxia, E... OMIM:619971
Spinocerebellar Ataxia 50
Chorea, Froment sign, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, He... OMIM:620158
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Focal tonic seizure, Interictal epileptiform activity, Hypertonia, Limb tremor OMIM:300699
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus, Sensorineural hearing impairment, Seizure OMIM:618251
Spinocerebellar Ataxia 13
Gait ataxia, Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Optic atro... OMIM:605259
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb... ORPHA:254343
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Increased theta frequency activity in EEG, Focal-onset... ORPHA:1949
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Narp Syndrome
Rod-cone dystrophy, Seizure, Myoclonic spasms, Progressive gait ataxia, Retinal pigment epithelia... ORPHA:644
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Myoclonus-Dystonia Syndrome
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Dystonia ORPHA:36899
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal i... OMIM:615859
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Seizure, Myoclonus, Slurred speech, Nonprogressive cerebellar a... ORPHA:3327
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:608636
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c... OMIM:617389
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos... OMIM:619862
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... OMIM:601382
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Degeneration of anterior horn cells, Generalized myoclonic seizure, My... OMIM:159950
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Epileptic spasm, Spastic tetraplegia, EEG with polyspike wave complexes, EEG w... OMIM:619913
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Late-Infantile/Juvenile Krabbe Disease
Upper motor neuron dysfunction, Frequent falls, Difficulty walking, Acroparesthesia, Spastic dipl... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis, Dystonia OMIM:615924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Seizure, EEG abnormality, Absent brainstem auditory responses, ... OMIM:617519
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Pac... OMIM:614115
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:1941
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... OMIM:617290
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking OMIM:619191
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, EEG abnormality, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Generali... ORPHA:313772
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epilepti... ORPHA:98820
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq... OMIM:500003
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Focal-onset seizure, Myoclonus, Impaired tactile sensation, Ataxi... OMIM:619092
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Interictal EEG abnormali... ORPHA:352582
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Atax... OMIM:617904
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Crouch gait, Myoclonus, Foca... OMIM:620145
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Developmental And Epileptic Encephalopathy 99
Perisylvian polymicrogyria, Focal-onset seizure, Eyelid myoclonus, Multifocal epileptiform discha... OMIM:619606
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:307
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... ORPHA:225154
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... ORPHA:98763
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Vertigo, Tonic seizure, Bilateral t... OMIM:618924
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Bilateral toni... OMIM:619028
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Seizure, Myoclonus, Ataxia, Slurred speech OMIM:274240
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Apraxia, Inability to... OMIM:617810
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus, Hearing impairment, Optic atrophy OMIM:619057
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... OMIM:616421
Dystonia 11, Myoclonic
Writer's cramp, Myoclonus, Tremor, Torticollis OMIM:159900
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dystonia OMIM:619065
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Br... OMIM:607136
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Optic atrophy, Limb hypertonia, Rigidity, Hypsarrhythmia, Retinal degenerati... ORPHA:442835
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sen... OMIM:125250
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Riboflavin Transporter Deficiency
Progressive hearing impairment, Seizure, Abnormal autonomic nervous system physiology, Myoclonus,... ORPHA:97229
Developmental And Epileptic Encephalopathy 12
Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E... OMIM:613722
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Macular degeneration, Choreoatheto... ORPHA:99
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Vertigo, Intenti... ORPHA:276198
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Creutzfeldt-Jakob Disease
Gait ataxia, Myoclonus, Hemiparesis, Extrapyramidal muscular rigidity OMIM:123400
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Myoclonus, Para... OMIM:612736
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Pseudobulbar paralysis, Status epilepticus, Attenuation of retinal blood... OMIM:617082
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, EEG with burst suppression, Hyps... OMIM:308350
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Retinopathy, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower... ORPHA:306511
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... OMIM:245570
Developmental And Epileptic Encephalopathy 104
Seizure, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal imp... OMIM:619970
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... ORPHA:726
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Seizure, Falls, Rigidity, Hypsarrhythmia, Myoclonus, Choreoathetosis, Abnormality of extr... ORPHA:13
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Gait disturbance, Focal hemicloni... OMIM:618141
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Myoclonus, Torticollis, Gait disturbance, Tremor, Craniofa... OMIM:617284
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, EEG abnormality, Apraxia, Myoclonus, Gait disturbance, Babinski sign OMIM:618193
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality, Involuntary movements OMIM:617171
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... ORPHA:168491
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Abnormal pyramidal sign, Paresthesia, Seizure, Optic atrophy, Abnormality of extrapyr... ORPHA:79279
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... OMIM:618425
Spinocerebellar Ataxia Type 13
Gait ataxia, Impaired distal vibration sensation, Seizure, Optic atrophy, Titubation, Myoclonus, ... ORPHA:98768
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... OMIM:617113
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Upper limb spasticity, Bi... ORPHA:485350
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... OMIM:607346
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality OMIM:610003
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Juvenile Huntington Disease
Gait ataxia, Chorea, Seizure, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Dystoni... ORPHA:248111
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... OMIM:614487
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia OMIM:619651
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Optic atrophy, Inability to walk, Rigidity, Myoclonus, Gait disturbance, Loss of ambulat... OMIM:618241
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... OMIM:617166
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Seizure, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetos... ORPHA:101
Childhood-Onset Spasticity With Hyperglycinemia
Spastic diplegia, Optic atrophy, Progressive spasticity, Spastic dysarthria, Myoclonus, Loss of a... ORPHA:401866
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... OMIM:615369
Posttransplant Acute Limbic Encephalitis
Seizure, Abnormal autonomic nervous system physiology, Myoclonus, Ataxia, EEG with abnormally slo... ORPHA:163921
Foxg1 Syndrome
Spasticity, Inability to walk, Focal-onset seizure, Myoclonus, Optic disc hypoplasia, Status epil... ORPHA:561854
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges,... ORPHA:411986
Atypical Rett Syndrome
Gait ataxia, Limb myoclonus, Spasticity, Seizure, EEG abnormality, Inability to walk, Apraxia, Ge... ORPHA:3095
Lissencephaly 3
Gray matter heterotopia, Generalized tonic seizure, Seizure, Spastic tetraplegia, Agyria, Ataxia,... OMIM:611603
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Optic atrophy, Hypoplastic optic chiasm, Appendicular spasticity, Hypsarrhythmia, Myoclo... OMIM:617669
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Generalized-onset seizure, Conductive hearing impairment, Generalized tonic se... OMIM:617976
Phosphoserine Aminotransferase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610992
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Seizure, Resting tremor, Akinesia, Rigidity, Inability to w... ORPHA:391411
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Decreased nerve conduct... OMIM:618356
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... ORPHA:454887
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Spasticity, Blepharospasm, Optic atrophy, Rigidity, Clumsiness, Myoclonus, Gait disturban... OMIM:617282
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... OMIM:616409
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Optic atrophy, Truncal ataxia, Myoclonus, Ataxia, Babinski sign, Dystonia, P... OMIM:252011
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Abnormal pyramidal sign, Seizure, Vestibular nystagmus, EEG with persistent ... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Sensorineural hearing impairment, Seizure, Inability to walk, Clumsiness, Myoclonus, ... OMIM:617854
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Optic atrophy, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Oc... ORPHA:330050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... ORPHA:36387
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:208441
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... OMIM:617836
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Subependymal Nodular Heterotopia
Limb myoclonus, Gray matter heterotopia, Seizure, Abnormality of neuronal migration, Focal-onset ... ORPHA:101030
Epilepsy, Pyridoxine-Dependent
EEG with burst suppression, Generalized myoclonic seizure, Status epilepticus, Clonic seizure, Bi... OMIM:266100
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:101150
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Focal-onset seizure, Multifocal epileptiform discharges, Myoclonus, Tetraparesis, Inf... OMIM:618972
Hyperekplexia 4
Hypsarrhythmia, Myoclonus, Seizure, Hypertonia OMIM:618011
Sialidosis Type 1
Retinopathy, Sensorineural hearing impairment, Seizure, EEG abnormality, Myoclonus, Gait disturba... ORPHA:812
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Decreased motor nerve ... OMIM:616688
Myoclonus, Intractable, Neonatal
Chorea, Optic disc pallor, Myoclonus, Clonic seizure, Athetosis OMIM:617235
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Myoclonus, Unsteady gait, Seizure, Hypertonia OMIM:610090
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Limb hypertonia, EEG with burst suppression, Abnormal autonomic nervous system phy... OMIM:614498
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:616056
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... OMIM:605021
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria, Dystonia OMIM:620094
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Hypertonia ORPHA:166063
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Infantile Cerebellar-Retinal Degeneration
Sensorineural hearing impairment, Optic atrophy, Focal-onset seizure, Retinal dystrophy, Ataxia, ... OMIM:614559
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Perisylvian polymicrogyria, EEG with burst suppr... OMIM:619605
Alexander Disease
Spasticity, Seizure, Palatal tremor, Ataxia, Babinski sign, Dysmetria OMIM:203450
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, EEG abnormality, Apraxia, Myoclonus, Gait disturbance, Babinski sign, Abnorm... OMIM:221770
D-Glyceric Aciduria
Spasticity, Sensorineural hearing impairment, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myocl... OMIM:220120
Spinocerebellar Ataxia 2
Spasticity, Rod-cone dystrophy, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apr... OMIM:183090
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... OMIM:601455
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Gray matter heterotopia, Seizure, EEG abnormality, Abnormality of neur... OMIM:604317
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... ORPHA:79137
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... OMIM:619157
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Hemiparesis, Generalized myoclonic seizure, Focal atonic seizure, Bilateral ... ORPHA:101071
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Juvenile Sialidosis Type 2
Spasticity, Seizure, Optic atrophy, Myoclonus, Generalized myoclonic seizure, Ataxia, Dysmetria, ... ORPHA:93399
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Hypsarrhythmia, Myoclonus, Abnormality of extrapyramidal mot... ORPHA:204
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, EEG abno... ORPHA:206448
Mepan Syndrome
Chorea, Spasticity, Optic atrophy, Limb dystonia, Myoclonus, Hemidystonia, Gait disturbance, Atax... ORPHA:508093
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Tongue fasciculations, Abnormal cr... OMIM:601596
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Retinal degeneration, Inte... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Focal imp... OMIM:617493
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Bilateral tonic-clonic... OMIM:616672
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... OMIM:617711
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... ORPHA:501
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Spasticity, Sensorineural hearing impairment, Seizure, Retinal dy... ORPHA:464282
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral to... OMIM:271980
Sarcosinemia
Infantile sensorineural hearing impairment, Optic atrophy, Ataxia, Bilateral tonic-clonic seizure... ORPHA:3129
Kufor-Rakeb Syndrome
Spasticity, Seizure, Akinesia, Parkinsonism, Rigidity, Myoclonus, Torticollis, Paraparesis, Parki... OMIM:606693
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 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
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Optic atrophy, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Steppage gait, H... OMIM:616505
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Freque... ORPHA:251347
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Seizure, Hypertonia OMIM:225753
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Seizure, Inability to walk, Parkinsonism, Truncal ataxia,... OMIM:618877
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure, Optic atrophy OMIM:609241
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Sensorineural hearing ... OMIM:619847
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Seizure, EEG with polyspike wave complexes, Simplified gyral pattern, Myoclonus, EEG with focal s... ORPHA:284417
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, Optic atrophy, EEG abnormality, Oculomotor apraxia, Status epil... ORPHA:529665
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, EEG abnormality, Rigidity, Myoclonus, Polymicrogyria OMIM:300673
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... ORPHA:397946
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... ORPHA:382
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Truncal ataxia, Myoclonus, Ataxia, Dysmetria, Head titubation, Dystonia OMIM:250620
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Focal-onset seizure, Hypsarrhythmia, Ataxia, Bilateral to... OMIM:226750
D-Glyceric Aciduria
Chorea, Spasticity, Seizure, Myoclonus, Hearing impairment ORPHA:941
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Spasticity, Seizure, Myoclonus, Ataxia OMIM:618225
Leukodystrophy, Hypomyelinating, 13
Spasticity, Exaggerated startle response, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... OMIM:616881
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Optic atrophy, Bilateral tonic-clonic seizure, Dystonia, Hearing impairment OMIM:618237
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Cogwheel... OMIM:619725
Pontocerebellar Hypoplasia, Type 2E
Myoclonic seizure, Spasticity, Optic atrophy, Spastic tetraplegia, Myoclonus, Large earlobe, Toni... OMIM:615851
Peho Syndrome
Seizure, Optic atrophy, Hypsarrhythmia, Myoclonus, Pachygyria, Polymicrogyria OMIM:260565
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Limb dystonia, Myoclonus, Status epile... ORPHA:363400
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Sensorineural hearing impairment, Seizure, Inability to walk, Loss of ability to walk... OMIM:612073
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Inability to walk, Bilateral tonic-clonic seizure, Decreased nerv... ORPHA:457205
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... OMIM:618090
Canavan Disease
Abnormal pyramidal sign, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, Bilat... OMIM:271900
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure,... OMIM:613970
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Simplified gyral pattern, Bilateral ... OMIM:619301
Glycine Encephalopathy
Myoclonus, Seizure OMIM:605899
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Macrotia, Seizure ORPHA:397933
Infantile Krabbe Disease
Spasticity, Ankle clonus, Seizure, Optic atrophy, Spastic diplegia, Opisthotonus, Myoclonus, Gene... ORPHA:206436
Neuraminidase Deficiency
Sensorineural hearing impairment, Seizure, Myoclonus, Dysmetria, Slurred speech, Cherry red spot ... OMIM:256550
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Macrotia, Inability to walk, Simplified gyral pattern, Hypsarrhythmia, Bilater... OMIM:619877
Tay-Sachs Disease
Poor fine motor coordination, Optic atrophy, Inability to walk, Focal impaired awareness seizure,... ORPHA:845
Huntington Disease
Poor fine motor coordination, Chorea, Gait imbalance, Seizure, Inability to walk, Involuntary mov... ORPHA:399
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Seizure, Optic atrophy, Hypsarrhythmia, Myoclonus, Vocal cord paralysis, Epileptic sp... ORPHA:500144
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Sensorineural hearing impairment, Seizure, Ataxia, Babinski sign, Bilateral tonic-clonic seizure,... OMIM:618170
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat... ORPHA:53583
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Nipah Virus Disease
Myoclonus, Tremor, Seizure, Vertigo ORPHA:99825
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations OMIM:183050
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Baker-Gordon Syndrome
EEG abnormality, Inability to walk, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic ... OMIM:618218
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Optic disc pallor, Hypertonia OMIM:618240
Pyridoxal Phosphate-Responsive Seizures
Seizure, EEG with burst suppression, Myoclonus, Status epilepticus, Hypertonia, Unsteady gait ORPHA:79096
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment, Seizure OMIM:604218
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seiz... ORPHA:100988
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Simplified gyral pattern, Bilateral ... OMIM:619302
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Inability to walk, Focal-onset seizure, Limb dystonia, EEG with temporal focal... OMIM:616973
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Seizure, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Dystonia OMIM:312170
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Myoclonus, Hearing impairment, Ataxia OMIM:560000
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Macrotia, Seizure, Optic atrophy, Myoclonus, Profound hearing impairment, Abnormal pi... ORPHA:3078
Microcephaly-Capillary Malformation Syndrome
Seizure, Optic atrophy, Myoclonus, Spastic tetraparesis, Low-set ears, Hearing impairment OMIM:614261
Congenital Sialidosis Type 2
Spasticity, Seizure, Optic atrophy, Myoclonus, Ataxia, Hypoplasia of the fovea, Dysmetria, Low-se... ORPHA:93400
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Spastic... OMIM:612949
Alexander Disease Type Ii
Spasticity, Palatal tremor, Abnormal autonomic nervous system physiology, Rigidity, Ataxia, Babin... ORPHA:363722
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... OMIM:612164
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Inability to walk, Hyp... OMIM:617105
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Ataxia ORPHA:363717
Pontocerebellar Hypoplasia, Type 7
Spasticity, Macrotia, Seizure, Optic atrophy, Oculomotor apraxia, Myoclonus, Choreoathetosis, Ata... OMIM:614969
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Myoclonus, Gait disturbance, Babinski sign, Dystonia OMIM:600795
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Myoclonus, Torticollis, Hand tremor, Limb dystonia, Or... ORPHA:420485
Microcephaly, Amish Type
Hypoplasia of the fovea, Limb hypertonia, Optic atrophy, Myoclonus OMIM:607196
Coenzyme Q10 Deficiency, Primary, 1
Rod-cone dystrophy, Sensorineural hearing impairment, Seizure, Myoclonus, Status epilepticus, Rig... OMIM:607426
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Dysesthes... ORPHA:356
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Falls, Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait, Dystonia OMIM:203740
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Hypsarrhythmia, Epileptic spasm, Myoclonus OMIM:619060
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Abnormal autonomic nervous system physiology, Clonic seizure, Simple febrile... OMIM:617935
Hereditary Hyperekplexia
Spasticity, Seizure, Rigidity, Myoclonus, Gait disturbance, Ataxia, Hypertonia, Fasciculations ORPHA:3197
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Limb myoclonus, Ankle clonus, Seizure, Inability to walk, Hemiparesis, Oculomotor ... ORPHA:139396
Unilateral Polymicrogyria
Poor fine motor coordination, Infantile sensorineural hearing impairment, Generalized tonic seizu... ORPHA:268943
Optic Atrophy 11
Gait apraxia, Macrotia, Seizure, Optic atrophy, EEG with focal sharp waves, Optic nerve hypoplasi... OMIM:617302
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure, Polymicrogyria OMIM:300388
Dystonia 34, Myoclonic
Writer's cramp, Myoclonus, Torticollis, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, EEG abnormality, Focal-onset seizure, Choreoathetosis, Atonic seizure... ORPHA:1934
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetr... OMIM:618093
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Seizure, Myoclonus, Abnormal vestibular function, Positive Romberg sign, Bilateral s... ORPHA:70595
Developmental And Epileptic Encephalopathy 90
Ankle clonus, Limb hypertonia, EEG with burst suppression, Hypsarrhythmia, Focal-onset seizure, B... OMIM:301058
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Seizure, Spastic tetraplegia, Absent brainstem auditory responses, Head titubation, Vestibular ar... ORPHA:3240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Ataxia, Bilateral s... OMIM:618321
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Gait ataxia, Spasticity, Seizure, Optic atrophy, Ataxia, Babinski sign, Loss of ambulation, Bilat... OMIM:620089
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:231000
Sulfite Oxidase Deficiency, Isolated
Macrotia, Multifocal epileptiform discharges, Choreoathetosis, Hemiplegia, Ataxia, Bilateral toni... OMIM:272300
Caribbean Parkinsonism
Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Myoclonus, Apraxia, Progres... ORPHA:97355
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Hypsarrhythmia, Infantile spasms, Inability to walk OMIM:618374
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... ORPHA:101112
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Spasticity, Seizure, EEG abnormality, Gene... OMIM:619229
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia OMIM:614299
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Macular degeneration, Myoclonus, Dysmetria, Involuntary movements OMIM:619780
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Clonus OMIM:618201
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Sensorineural hearing impairment, Seizure, Spastic tetraplegia, Abnormal autonomic ne... OMIM:609136
Sandhoff Disease, Infantile Form
Myoclonic seizure, Spasticity, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-... ORPHA:309155
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Seizure, Cerebral palsy, Abnormal auditory evoked potentials, H... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Seizure, Cerebral palsy, Abnormal auditory evoked potentials, H... ORPHA:529799
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... OMIM:619428
Alzheimer Disease 3
Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait disturbance, Babi... OMIM:607822
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Spasticity, Chorea, I... OMIM:618917
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gait ataxia, Impaired distal vibration sensation, Sensorineural hearing impairment, Seizure, Prog... OMIM:607459
Neurodevelopmental Disorder With Spasticity And Poor Growth
Myoclonic seizure, Spasticity, Seizure, Limb hypertonia, Microtia, Hypsarrhythmia, Myoclonus, Ocu... OMIM:618076
Adenylosuccinase Deficiency
Gait ataxia, Spasticity, Seizure, Inability to walk, Myoclonus, Hemiplegia, Low-set ears, Opistho... OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Bilateral tonic-clonic seizure, Focal impai... OMIM:617600
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Seizure, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, T... OMIM:618060
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Postural tremor, Seizure, Resting tremor, Clumsiness, Parkinsonism, Rigidity... OMIM:619911
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Myoclonus, Torticollis, Focal dystonia, Head tremor, Axial dystonia, Difficulty w... ORPHA:420492
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Frequent falls OMIM:617523
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Generalized myo... OMIM:300672
Parkinsonian-Pyramidal Syndrome
Spasticity, Abnormal pyramidal sign, Shuffling gait, Parkinsonism, Rigidity, Abnormal autonomic n... ORPHA:171695
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Epileptic spasm, Seizure, EEG abnormality, Myoclonus, Focal tonic seizure, Low-set ears, Speech a... ORPHA:314655
Japanese Encephalitis
EEG abnormality, Respiratory paralysis, Choreoathetosis, Interictal epileptiform activity, Hypert... ORPHA:79139
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Hypertonia, Low-se... OMIM:616281
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Seizure, EEG abnormality, Myoclonus, Hearing impairment OMIM:614946
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:618856
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... ORPHA:93952
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Seizure, EEG abnormality, Myoclonus, Ataxia, EEG with abnormally slow frequencies... ORPHA:98794
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus, Exaggerated startle response, Hypertonia OMIM:614618
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Myoclonus, Pachygyria, Tongue fasciculations, Hearing impairment OMIM:614922
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Macrotia, Seizure, Myoclonus, Status epilepticus, Babinski sign, Bilateral tonic-clon... ORPHA:364028
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired distal vibration sensation, Vocal cord paresis, Impaired tandem gait, Impaired pain sens... OMIM:619574
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Apraxia, Limb ataxia,... OMIM:137440
Abeta Amyloidosis, Iowa Type
Myoclonus, Gait disturbance ORPHA:324708
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Seizure, Paroxysmal dystonia, Myoclonus, Babinski sign, Scissor g... ORPHA:466722
Dystonia 26, Myoclonic
Blepharospasm, Myoclonus, Torticollis, Laryngeal dystonia, Dystonia OMIM:616398
Cln3 Disease
Myoclonic seizure, Seizure, Optic atrophy, Shuffling gait, Focal-onset seizure, Extrapyramidal mu... ORPHA:228346
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, EEG abnormality, Seizure, Limb hypertonia, Inabilit... ORPHA:488613
Angelman Syndrome
Seizure, Optic atrophy, EEG abnormality, Inability to walk, Myoclonus, Generalized myoclonic seiz... ORPHA:72
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Thickened helices, EEG with polyspike wave complexes, Aganglionic megacolon, Myoclonus, ... ORPHA:247262
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia, Tinnitus, Vertigo ORPHA:209970
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Seizure, Optic atrophy, Spastic diplegia, Retinal degeneration, Poor coordina... ORPHA:391428
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Sensorineural hearing impairment, Seizure, Abnormality of neuronal migration, Gait di... OMIM:300957
Hyperekplexia 1
Exaggerated startle response, Seizure, Myoclonus, Frequent falls, Hypertonia, Nocturnal seizures OMIM:149400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, A... ORPHA:909
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Optic nerve hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Polymicrogyria ORPHA:250972
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Ch... OMIM:619777
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Seizure, EEG with generalized epileptiform discharges, Lissencephaly, ... OMIM:619827
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Seizure, Inability to walk, Broad-based gait OMIM:616158
Cockayne Syndrome Type 1
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Seizure, Optic atro... ORPHA:90321
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic ataxia, Seizure, Spastic tetraplegia, Myoclonus, Generalized myoclonic seizur... OMIM:616640
Neuroferritinopathy
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Palatal tremor, Writer's cramp, Babinski sig... ORPHA:157846
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic atrophy, EEG abnormality, Oculomotor apraxia, Inability to walk, A... ORPHA:404454
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Generalized tonic seizure, Sensorineural hearing impairment, Seizure, Optic atrophy, Involuntary ... ORPHA:480864
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesi... OMIM:605711
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Seizure, EEG abnormality OMIM:246450
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Developmental And Epileptic Encephalopathy 101
Myoclonus, Seizure, Opisthotonus OMIM:619814
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Myoclonus, Ataxia, Optic disc pallor, Dystonia OMIM:619167
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Seizure, Upper limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Tremo... ORPHA:457240
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Focal-onset seizure, Abnormal autonomic nervous system physiology, Myo... ORPHA:83601
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia OMIM:233910
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Generalized-onset seizure, Abnormal pyramidal... ORPHA:268940
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Myoclonus, Ataxia OMIM:600072
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal tremor, Truncal ataxia, Spastic paraparesis OMIM:113610
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Hypertonia