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Gene: Mbp MGI:96925

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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:
myelin basic protein
Synonyms:
Hmbpr,  jve,  golli-mbp

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 Mbp 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 Mbp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... OMIM:618587
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Hand tremor, Babinski sign, L... ORPHA:401840
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Gait disturbance, Focal hemicloni... OMIM:618141
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Megalencephaly With Dysmyelination
Ataxia, Spasticity, Cerebral dysmyelination, EEG with photoparoxysmal response OMIM:249240
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Focal-onset seizure, Focal clonic seizure, Interictal ... ORPHA:725
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Cerebellar hypoplasia... OMIM:617810
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... OMIM:617836
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
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... OMIM:617665
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Developmental And Epileptic Encephalopathy 57
Reduced cerebral white matter volume, Seizure, Hypsarrhythmia, Generalized myoclonic seizure, Thi... OMIM:617771
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Reduced cerebral white matter volume, Typical absence seizure, Choreoathetosis... OMIM:618396
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... OMIM:601068
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystrophy... OMIM:614561
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... OMIM:616409
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... OMIM:619157
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypert... OMIM:180800
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demyelinating motor ne... ORPHA:208981
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... OMIM:619317
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Seizure, Paroxysmal dyskinesia, Generalized non-motor (a... OMIM:609446
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... OMIM:613608
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Typical absence seizure, Seizure, Abnormal cerebellum morphology, Gait imba... ORPHA:101070
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Multifocal epileptiform discharges, Abnormal cerebral white matter morphology,... OMIM:618596
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Seizure, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb spa... ORPHA:98811
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Lennox-Gastaut Syndrome
Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized my... ORPHA:2382
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... OMIM:616187
Developmental And Epileptic Encephalopathy 99
Perisylvian polymicrogyria, Frontotemporal cerebral atrophy, Focal-onset seizure, Eyelid myoclonu... OMIM:619606
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D... ORPHA:1368
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Mul... OMIM:615369
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Sensorineural hearing impairment, Abnormality of somatose... ORPHA:101007
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... OMIM:616421
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Autosomal Recessive Spastic Paraplegia Type 57
Spasticity, Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk, Abnorma... ORPHA:431329
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Parkinsonism With Polyneuropathy
Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso... OMIM:619279
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Typical absence seizure, Seizure... ORPHA:2590
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Developmental And Epileptic Encephalopathy 54
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... OMIM:617391
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... OMIM:618425
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Impaired vibratory sensation, Hearing impairment ORPHA:217012
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... OMIM:617113
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Spasticity, Ankle clonus, Seizure, Inability to walk, Spastic tetraple... OMIM:616657
Monomelic Amyotrophy
Fasciculations, Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn... ORPHA:65684
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Spasticity, Reduced cerebral white matter volume, Seizure, Focal motor seizure... OMIM:617711
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Myelin outfolding... OMIM:601382
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Spastic tetraplegia, Cerebellar hypoplasia, Hypsarr... OMIM:618677
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... ORPHA:79137
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Optic a... OMIM:609260
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hy... OMIM:604213
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations OMIM:183050
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Choreoathetosis, Babinski sign, Decreased nerve c... ORPHA:98890
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:616056
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Primary microcephaly, Crouch... OMIM:620145
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Sensorineural hearing impairment, Seizure, Tongue fasciculations, Atax... OMIM:618170
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure,... OMIM:612621
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukoencephalopathy, Spasticity, Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficult... OMIM:618242
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
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
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Babinski sign, Difficulty wal... ORPHA:401820
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Seizure, CNS demyelination, Babinski sign, Spastic tetraparesis, Decreased nerve con... OMIM:249900
Null Syndrome
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Optic atrophy, Demyel... ORPHA:280234
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Thin corpus callosum, Apraxia, Gait disturban... OMIM:300423
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction v... OMIM:601098
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:307
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Spastic dysarthria, Abnormal myelination, Hand tremor, Lower limb... ORPHA:401830
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic p... OMIM:182815
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal sensory seizure, Generalized-onset seizure, Paroxysmal dystonia, Focal-onset seizure, Norma... OMIM:602066
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Seizure, Inability to walk, Spastic tetraplegia, EEG with burst suppression, H... OMIM:617929
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:1941
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, EEG abnormality, Hyperkinetic movements, Generalized myoclonic seizure, Status epileptic... OMIM:271980
Sub-Cortical Nodular Heterotopia
Spasticity, EEG with focal slow activity, Seizure, EEG with focal spikes, Abnormal cerebral corte... ORPHA:101029
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, EEG with polyspike wave complexe... OMIM:619913
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Cerebral cortical atrophy, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure... ORPHA:485350
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Inability to walk, Tongue fasciculations, Ataxia, Failure to thrive, Hypoplasia of th... OMIM:618276
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Hearing impairment, Ataxia ORPHA:101078
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Genera... ORPHA:86909
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Seizure, Cerebellar hypoplasia, Hemiparesis, Cerebellar vermis hypopla... OMIM:610031
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spasticity, Seizure, Spastic tetraplegia, Focal-onset seizure, Periventricular... OMIM:619616
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Upper motor neuron dysfunction OMIM:612577
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... ORPHA:206594
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Myoclon... ORPHA:411986
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Sensorineural hearing impairment, Optic atrophy OMIM:136600
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ata... OMIM:606777
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... OMIM:618090
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Seizure, Parkinsonism, Rigidity, Abnormality of extr... OMIM:617672
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Torticollis, Ataxia, Babins... OMIM:607317
Developmental And Epileptic Encephalopathy 12
Spasticity, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:613722
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Focal-onset seizure, Eyelid myoclonus, Atonic seizure, Paroxysmal d... ORPHA:208447
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Impaired distal vibration sensation, Spastic gait, Demyelinating peripheral neuropath... OMIM:619742
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decrea... OMIM:614895
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Hypsarrhythmia, Tremor, Epileptic spasm OMIM:619561
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
Spinocerebellar Ataxia Type 37
Cerebellar vermis atrophy, Sensorineural hearing impairment, Falls, Dysdiadochokinesis, Truncal a... ORPHA:363710
Spinocerebellar Ataxia 23
Gait ataxia, Impaired vibration sensation in the lower limbs, CNS demyelination, Limb ataxia, Bab... OMIM:610245
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms OMIM:619964
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Thin corpus callosum, Focal m... OMIM:620115
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... OMIM:605407
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Hand tremor, Babinski sign, Decreased compound muscle action potential ampl... OMIM:618279
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
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Generalized non-motor (absence) seizure, Failure to thrive, Bilateral tonic-... OMIM:616281
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, EEG with polyspike wave complexes, Focal-onset seizure, Generalized myoc... ORPHA:1942
Infantile Convulsions And Choreoathetosis
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Athetosis, Paroxysmal dyskinesia, Focal im... ORPHA:31709
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... ORPHA:95434
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Peri... ORPHA:397946
Dystonia 23
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Myoclonus, Torticollis, Gait disturbanc... OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Seizure, Focal-onset seizure, Abnormality of extrapyramid... OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor ORPHA:352675
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... ORPHA:2589
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i... OMIM:165300
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Optic atrophy, Inability to walk, Hypsarrhythmia, Periventricular leukomalacia, Gener... OMIM:619701
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Hereditary Motor And Sensory Neuropathy V
Spasticity, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Babinski sign, Pe... OMIM:600361
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
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
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking ORPHA:423296
Lissencephaly 3
Generalized tonic seizure, Seizure, Spastic tetraplegia, Agyria, Cerebellar vermis hypoplasia, Li... OMIM:611603
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... OMIM:616230
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude, Frequent falls, Chaddock reflex, Babinski sign OMIM:619112
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... OMIM:616540
Tubulinopathy-Associated Dysgyria
Oculomotor apraxia, Agyria, Cerebellar vermis hypoplasia, Ataxia, Dysgyria, Abnormal corpus callo... ORPHA:467166
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Babinski sign, Tremor, Peripheral axonal neuropathy OMIM:611105
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Hearing impairment, Ataxia ORPHA:101075
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat... ORPHA:71277
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Ce... OMIM:610003
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy, Spastic paraplegia, Babinski sign, Lower limb spasticity, Hypoplasia... OMIM:613162
Pyridoxine-Dependent Epilepsy
Seizure, EEG with generalized epileptiform discharges, Focal-onset seizure, Hypsarrhythmia, EEG w... ORPHA:3006
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... OMIM:615006
Spinocerebellar Ataxia Type 26
Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progress... ORPHA:101112
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Seizure, Abnormal cerebral white matter morphology, Mild malformation of cortical development, Dy... ORPHA:500166
Ravine Syndrome
Spasticity, Decreased body weight, Abnormal auditory evoked potentials, Ataxia, Failure to thrive... ORPHA:99852
Paroxysmal Kinesigenic Dyskinesia
Chorea, Focal sensory seizure, Seizure, Writer's cramp, Involuntary movements, Athetosis, Dystonia ORPHA:98809
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... ORPHA:168491
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure, Polymicrogyria OMIM:300388
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... OMIM:606483
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hearing impairment OMIM:312910
Lissencephaly Due To Lis1 Mutation
Atonic seizure, Focal impaired awareness seizure, Abnormal corpus callosum morphology, Posterior ... ORPHA:95232
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure with focal onset, EEG with centrotemporal focal spike waves, Seizu... OMIM:245570
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilateral tonic-cl... ORPHA:53583
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
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
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Abnormal n... OMIM:256731
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Cere... OMIM:619428
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Leukodystrophy, Hypomyelinating, 18
Spasticity, Spastic tetraplegia, Progressive spasticity, Babinski sign, Dysmetria, Decreased nerv... OMIM:618404
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Thin corpus callosum, Tonic seiz... OMIM:617389
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, M... OMIM:614322
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Peroxisome Biogenesis Disorder 8B
Gait ataxia, Spasticity, Ankle clonus, Limb tremor, Optic atrophy, Rigidity, Leukodystrophy, Atax... OMIM:614877
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, EEG abnormality, Foca... OMIM:615476
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Decreased body weight, Sensorineural hearing impairment, Optic atrophy... OMIM:614559
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Peripheral demyelination, Ataxia, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve cond... OMIM:601455
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Cln5 Disease
Cerebral cortical atrophy, Inability to walk, Focal-onset seizure, Truncal ataxia, Unsteady gait,... ORPHA:228360
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonic seizure, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infant... OMIM:616139
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Aplasia/Hypoplasia... ORPHA:263516
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Focal-onset seizure, Cerebral hypoplasia, Generalized myoclonic sei... ORPHA:101071
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Spasticity, Seizure, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudate and pu... OMIM:614039
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Dense calcifications in the cerebellar dentate nucleus, Abnormal pyramidal sign, Seizure,... OMIM:213600
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Perisylvian polymicrogyria, Focal-onset seizure,... OMIM:619605
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Spastic paraplegia, Babin... ORPHA:477673
Lissencephaly 4
Seizure, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Ba... OMIM:614019
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Hyperintensity of cerebral white matter on MRI, Parkinsonism, Babinski ... ORPHA:521406
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Gait disturbance, Tremor, Orthostatic hypotension, Bradykinesia OMIM:616710
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Focal-onset se... OMIM:616645
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:611634
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Generalized-onset seizure, EEG with generalized slow activi... ORPHA:79263
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Dense calcifications in the cerebellar dentate nucleus, Abnormal... ORPHA:542310
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Inability to walk, Focal-onset seizure, Interictal epileptiform act... ORPHA:1929
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Hyperintensi... ORPHA:65683
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, General... OMIM:614487
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Abnormal cerebe... ORPHA:98762
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Pontocerebellar Hypoplasia Type 2
Spasticity, Hypoplasia of the ventral pons, Seizure, Abnormal cortical gyration, Cerebellar hypop... ORPHA:2524
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb myoclonus, Abnormal nerve conduction velocity, Postural tremor, Torticollis, Li... OMIM:619862
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Generalized myoclonic seizure, Agenesis of corpus callosum ORPHA:85334
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Involuntary movements OMIM:617171
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Abnormal cerebral white matter morphology, Failure to thrive, Tremor, Low-set ears OMIM:618951
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Tremor, Hearing impairment ORPHA:99014
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, EEG abnormality, Focal-onset seizure, Choreoathetosis, Atonic seizure... ORPHA:1934
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... OMIM:616981
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lissencephaly, X-Linked, 1
Spasticity, Seizure, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpus callosum OMIM:300067
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:608636
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Hyperkinetic movements, Involuntary movements, Multifocal epileptiform discha... OMIM:617493
Developmental And Epileptic Encephalopathy 17
Chorea, Delayed myelination, Hypsarrhythmia, Athetosis, Dystonia OMIM:615473
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Atax... OMIM:617904
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... ORPHA:382
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Cerebral cortical atrophy, Hand tremor, Bilateral tonic-clonic seizure, Progressive ... OMIM:617862
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Sensory axonal neuropathy, Tremor, Focal dystonia, Dystonia, Fasciculations ORPHA:309169
Spinocerebellar Ataxia Type 43
Gait ataxia, Limb ataxia, Peripheral axonal neuropathy, Cogwheel rigidity, Progressive cerebellar... ORPHA:497764
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Abnormal pyramidal sign, Decreased body weight, Seizure, EEG abnormality, Lissencepha... OMIM:614833
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... ORPHA:501
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Acute demyelinating polyneuropathy, Postural tremor, De... ORPHA:3115
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Inability to walk, Hyperkinetic ... OMIM:614254
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, Seizure, Myoclonus, Tremor, C... ORPHA:139485
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnorm... ORPHA:98820
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Simplified gy... OMIM:619301
Spastic Paraplegia 6, Autosomal Dominant
Seizure, Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Poor fine motor coord... ORPHA:512260
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Optic nerve hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms... ORPHA:250972
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Pac... OMIM:614115
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Upper motor neuron dysfunction, Tremor, Tongue fascic... ORPHA:276435
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Clumsiness, Slurred speech, Tetraparesis,... ORPHA:2386
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Neuroectodermal Melanolysosomal Disease
Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Seizure, Optic atrophy, Cere... ORPHA:33445
Developmental And Epileptic Encephalopathy 88
Seizure, Hypsarrhythmia, Inferior cerebellar vermis hypoplasia, Progressive microcephaly, Partial... OMIM:618959
Krabbe Disease
Peripheral demyelination, Seizure, Optic atrophy, Progressive spasticity, CNS demyelination, Decr... OMIM:245200
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Ankle clonus, Seizure, Abnormal pyramidal sign, Tremor, Fo... OMIM:617435
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Macrotia, Poor coordination, Gait disturbance, Ataxia, Eating-induced ... ORPHA:544254
Leukodystrophy, Hypomyelinating, 5
Abnormal pyramidal sign, Onion bulb formation, Seizure, Decreased motor nerve conduction velocity... OMIM:610532
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... OMIM:619028
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Liang-Wang Syndrome
Status epilepticus, Ataxia, Cerebral atrophy, Cerebellar atrophy, Dystonia, Generalized non-motor... OMIM:618729
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, EEG with central focal spikes, Poor fine motor c... ORPHA:268947
Late-Infantile/Juvenile Krabbe Disease
Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Impaired tactile se... ORPHA:206443
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Seizure, Generalized myoclonic seizure, Myoclonus, Choreoathetosis, Progressive s... OMIM:301020
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Ataxia, Tremor, Microcephaly, Infantile spasms OMIM:278780
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Sensorineural heari... OMIM:302800
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Bilateral tonic-clonic seizur... OMIM:618093
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Paralysis, Peripheral hypomyelina... OMIM:605285
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Sensorineural hearing impairment, Decreased motor nerve conduction vel... OMIM:162400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Abnormal a... ORPHA:139578
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Spasticity, Perisylvian polymicrogyria, Focal-onset seizure, Aganglioni... ORPHA:171680
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy, Hypoplasia of the c... OMIM:616494
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... OMIM:612164
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Sensorineural hearing impairment, Optic atrophy, Ataxia, Babinski sign, Dysmetria, De... OMIM:612674
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Myoclonus, Multifocal epileptiform discharges, Status epilepticus, Choreoathetosis... OMIM:609056
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Fasciculations OMIM:606595
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Simplified gy... OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Seizure, Optic atrophy, Failure to thrive, Microcephaly, Cerebral atrophy, Hypertoni... OMIM:274270
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
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... OMIM:612736
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Seizure, Optic atrophy, Parkinsonism, Rigidity, Abnormal a... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Demyelinating sensory neuropathy, Dysmetria, Tremor, Steppage gait, Distal s... OMIM:618387
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... ORPHA:35878
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Seizure, Optic atrophy, Simplified gyral pattern, Spastic tetraparesis, Tremor, Microcephaly, Per... OMIM:619470
Spastic Paraplegia 17, Autosomal Dominant
Postural tremor, Spastic gait, Decreased motor nerve conduction velocity, Babinski sign, Spastic ... OMIM:270685
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Dystonia, Sensorineural hearing impairment OMIM:614932
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Macrotia, Focal impaired awareness hemiclonic seizure, Microcephaly, Hypoplas... OMIM:620149
Autosomal Dominant Spastic Paraplegia Type 17
Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... ORPHA:93952
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Postural tremor, Seizure, Resting tremor, Akinesia, Clumsiness, Parkinsonism... OMIM:619911
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Babinski sign, Spastic paraplegia, Knee clonus, Peripheral a... OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Harel-Yoon Syndrome
Spasticity, Optic atrophy, Inability to walk, Ataxia, Cerebellar atrophy, Dystonia, Generalized n... OMIM:617183
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Cerebral atrophy, Dys... OMIM:600116
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Optic atrophy, Demyelinating p... ORPHA:504476
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Decreased motor nerve conduction velocity, Rigidity, Chore... OMIM:608804
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Seizure, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Co... OMIM:608716
Leukodystrophy, Hypomyelinating, 13
Spasticity, Exaggerated startle response, Optic atrophy, Leukodystrophy, Ataxia, Delayed CNS myel... OMIM:616881
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, EEG with generalized epileptiform discharges, Seizure, Hyperintensity of cerebral wh... ORPHA:1947
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Spasticity, Seizure, Inability to walk, Simplified gyral pattern, Microcephaly, Cerebral atrophy,... OMIM:618492
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Gaba-Transaminase Deficiency
Seizure, Cerebellar hypoplasia, EEG with burst suppression, Lethargy, Agenesis of corpus callosum OMIM:613163
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Conductive hearing impai... OMIM:617976
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Recurrent respiratory infections, Hand tremor, Degeneration of anterior ho... OMIM:253550
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Seizure, Optic atrophy, Inability to walk, Appendicular spasticity, Periventricular leukomalacia,... OMIM:618324
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Axonal loss, Apraxia, Myoclonus, Babinski sign, Peripheral demyelination OMIM:221770
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, Peripher... ORPHA:206448
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Seizure, Optic atrophy, Focal-onset seizure, He... ORPHA:395
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... ORPHA:352582
Lipoid Proteinosis Of Urbach And Wiethe
Bilateral intracerebral calcifications, Temporal lobe calcification, Seizure, Generalized non-mot... OMIM:247100
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Sensorineural hearing im... OMIM:613287
Periventricular Nodular Heterotopia 7
Sensorineural hearing impairment, Seizure, Hypsarrhythmia, Ataxia, Failure to thrive, Cortical dy... OMIM:617201
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Nonprogressive cerebellar ataxia, Clumsiness, Ba... ORPHA:453521
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Clumsiness, Decr... OMIM:616688
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Microcep... OMIM:617284
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Thin corpus callosum, Myoclonus, Failure to thrive, Tremor, Dystonia OMIM:619651
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Seizure, EEG abnormality, Cessation of head growth, Bilateral tonic-clonic seizur... ORPHA:98795
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Seizure, Abnormal cerebellum morphology, Spastic diplegia, Failure to thri... ORPHA:255182
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Spinocerebellar Ataxia 50
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... OMIM:620158
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Seizure, EEG abnormality, Absent brainstem auditory responses, ... OMIM:617519
Spinocerebellar Ataxia Type 10
Gait ataxia, Generalized-onset seizure, Gait imbalance, EEG with generalized epileptiform dischar... ORPHA:98761
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Decreased nerve conduction veloc... OMIM:618356
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Rigidity, Ataxia, Decreased sensory nerve conduction v... OMIM:603472
Metachromatic Leukodystrophy
Chorea, Seizure, Spastic tetraplegia, Optic atrophy, Ataxia, Babinski sign, Decreased nerve condu... OMIM:250100
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Babins... OMIM:604168
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action po... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Microcephaly 17, Primary, Autosomal Recessive
Spasticity, Macrotia, Seizure, Primary microcephaly, Simplified gyral pattern, Cerebellar hypopla... OMIM:617090
Hyperekplexia-Epilepsy Syndrome
Hypoplasia of the frontal lobes, Exaggerated startle response, Generalized tonic seizure, EEG wit... ORPHA:163985
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Demyel... ORPHA:101077
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Seizure, Limb hypertonia, Hypsarrhythmia, Failure to thrive, Tremor, M... OMIM:617162
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Lower limb sp... ORPHA:100988
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... ORPHA:98763
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Lim... OMIM:117360
Glut1 Deficiency Syndrome 2
Seizure, EEG abnormality, Choreoathetosis, Ataxia, Tremor, Cerebral atrophy, Dystonia OMIM:612126
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Inability to walk, Optic nerve hypoplasia, Steppage gait, Unsteady g... ORPHA:101085
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Seizure, Limb hypertonia, Parkinsonism, Rigidity, Dystonia, ... OMIM:615528
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... ORPHA:71517
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, Optic atrophy, EEG abnormality, Cerebellar hypoplasia, Oculomot... ORPHA:529665
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Seizure, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Failure to thrive, Caud... OMIM:618238
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Rabies
Vocal cord paresis, Seizure, Cerebral palsy ORPHA:770
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... ORPHA:280219
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Seizure, Lateral ventricle dilatation, Cavum septum pellucidum, Focal... ORPHA:300573
Obesity, Hyperphagia, And Developmental Delay
Obesity, Seizure, Generalized non-motor (absence) seizure OMIM:613886
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Seizure, EEG abnormality, Simplified gyral pattern, Hemiparesis, Lisse... OMIM:604317
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Limb dystonia, Or... ORPHA:420485
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... OMIM:617166
Spinocerebellar Ataxia, Autosomal Recessive 13
Retrocerebellar cyst, Dilated fourth ventricle, Gait ataxia, Abnormal pyramidal sign, Seizure, In... OMIM:614831
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Spastic gait, Appendicular spasticity, Spastic dysarthria, Pseudobu... OMIM:606353
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Inability to walk, Cerebellar gliosis, Polymicrogyria, EEG with foc... ORPHA:79243
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Ataxia, Babinski sign, Dysmetria, Delayed CNS myelination, Head ti... OMIM:618688
Autosomal Recessive Spastic Paraplegia Type 21
Spasticity, Abnormality of peripheral nerve conduction, Abnormal pyramidal sign, Apraxia, Abnorma... ORPHA:101001
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Retrocerebellar cyst, Cerebellar hypoplasia, Generalized myoclonic seizure, Ataxia, Aplasia/Hypop... ORPHA:137831
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Macrotia, Decreased motor nerve conduction velocity, Interictal epileptifor... OMIM:218000
Intellectual Developmental Disorder, Autosomal Dominant 39
Thin corpus callosum, Focal impaired awareness seizure, Cerebral atrophy, Obesity, Generalized no... OMIM:616521
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Hypsarrhythmi... OMIM:226750
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypertonia, Obesity, G... OMIM:619854
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Spastic paraparesis, Bilateral tonic-clonic seizure, Complex febrile seizure... OMIM:619338
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Subcortical cerebral atrophy, Shuffling gait, Resting tremor, Falls, P... ORPHA:306692
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... ORPHA:216873
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Seizure, Resting tremor, Babinski sign, Spastic paraparesis, Scissor ga... ORPHA:363654
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Macrotia, Cerebral cortical atrophy, Seizure, Inability to ... OMIM:617864
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclonus,... ORPHA:726
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Hsd10 Disease
Seizure, Optic atrophy, Frontotemporal cerebral atrophy, Rigidity, Myoclonus, Choreoathetosis, Ga... ORPHA:391417
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Hea... ORPHA:101082
Developmental And Epileptic Encephalopathy 104
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... OMIM:619970
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Inability to walk, Hyp... OMIM:617105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Hearing impairment, Compound muscle action ... OMIM:616040
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Bilateral tonic-clonic seizure OMIM:619191
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure, Microcephaly OMIM:615553
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Cerebral cortical atrophy, Seizure, Optic atrophy, Ataxia, Tremor, Abnormal pinna mor... OMIM:300983
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Cerebral cortical atrophy, Sensorineural hearing impairment, S... ORPHA:457351
Kohlschutter-Tonz Syndrome-Like