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,  golli-mbp,  jve

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Tremor, EEG with spike-wave complexes, Truncal ataxia, Gait ataxia, Atonic seizure, Absence seizu... OMIM:618587
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Interictal epileptiform activity, Focal hem... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Megalencephaly With Dysmyelination
Cerebral dysmyelination, Ataxia, EEG with photoparoxysmal response, Spasticity OMIM:249240
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Myoclonic absence seizure, Arnold-Chiari type I malformation, Bilateral tonic-c... OMIM:617836
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Tre... ORPHA:36387
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Ce... OMIM:607208
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Chorea... OMIM:619317
Mental Retardation, Autosomal Recessive 6
Seizure, Tremor, Involuntary movements, Myoclonus OMIM:611092
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:254800
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Atonic seizure, Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Ce... ORPHA:101070
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demyelinating sensory ... ORPHA:208981
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:619157
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Abnormal cerebral white matter morphology, Myoclonic absence seizure, Multifocal epileptiform dis... OMIM:618596
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Sensorineural hearing impairment, Steppage gait OMIM:300905
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Seiz... ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:601068
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, EEG w... OMIM:615369
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Sensory axonal neuropathy, Dysmetria, Babinski sign, Generalized myocloni... OMIM:612437
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Inability to walk, Abnormal myelination, Babinski sign, Abnormality of periph... ORPHA:431329
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Sensorineural hea... ORPHA:101007
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generalized non-motor... ORPHA:98811
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3... OMIM:609446
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Interictal epileptiform activity,... ORPHA:33069
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Focal-onset seizure, Bilateral ton... OMIM:613608
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Abnormal cerebellum morpholo... OMIM:618242
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Hypoplasia of the corpus callosum, Seizure, Generalized myoclonic seizure, Atypic... OMIM:617771
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Cerebell... OMIM:618090
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Hearing impairment, Spasticity ORPHA:217012
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Gait disturbance, Seizure, Generalized non-motor (absence) seizure, EEG abnormali... OMIM:618141
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus, Generalized n... OMIM:271980
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypsarrhythmia, Hypoplasia of the corpus callosum, Hypertonia, Cerebellar ... OMIM:618677
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... ORPHA:79137
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Seizure, Dysplast... OMIM:604213
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation OMIM:147530
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Babinski sign, Decreased nerve conduction velo... ORPHA:98890
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:485350
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Abnormal myelination, Lower limb spasticity, Spastic gait, Limb tremor, Babin... ORPHA:401820
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Null Syndrome
Peripheral demyelination, Progressive spastic quadriplegia, Demyelinating peripheral neuropathy, ... ORPHA:280234
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Hearing impairment, Hand tremor, Progressive spastic... ORPHA:401830
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, EEG with generalized slow a... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Spasticity, Secondary microcephaly, Ataxia, Status epilepticus, General... OMIM:300912
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Generalized tonic seizure, Occipital cortical atrophy, Hypsarrhythmia, Atonic ... ORPHA:411986
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Spastic tetraparesis, Seizure, Babinski sign, P... OMIM:249900
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Myoclonic seizure, Hyperactivity, Periventricular white matter hyperdensities, Sp... ORPHA:168491
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy, Spastic tetraparesis, Ataxia OMIM:619061
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Ataxia, Clonus, Optic atrophy, Spasticity OMIM:616881
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Abnormality of the basal ganglia, EEG... ORPHA:101029
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bilateral tonic-c... OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal sign, Ataxi... OMIM:617672
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Attention deficit hyperactivity disorder, Broad-based... OMIM:617665
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Abnorm... OMIM:615362
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Developmental And Epileptic Encephalopathy 18
Focal-onset seizure, Generalized non-motor (absence) seizure, EEG abnormality, Thick corpus callo... OMIM:615476
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic seizure, Cerebella... OMIM:611726
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar... OMIM:617862
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, Hypoplasia of th... ORPHA:3006
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
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
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Periventricular Nodular Heterotopia 8
Delayed myelination, Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Abnormal nerve conduction velocity, Tremor, Ataxia ORPHA:101075
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Attention deficit hyperactivi... ORPHA:35878
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Abnormal pyramidal si... OMIM:617350
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia, Choreoat... OMIM:104290
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Glutathionuria
Tremor OMIM:231950
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Hypsarrhythmia, Focal-onset seizure, Chorea, Hy... ORPHA:88616
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Sensorineural hearing impairment, Decreased nerve conduction velocity ORPHA:352675
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Seizure, Small cerebral cortex, Hearing... OMIM:608716
Glut1 Deficiency Syndrome 1
Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Seizure, Dysplastic corpus callosum, Hearing impairmen... ORPHA:500166
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cln5 Disease
Clumsiness, Focal myoclonic seizure, Cerebral cortical atrophy, Hyperactivity, Periventricular wh... ORPHA:228360
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment, Optic atrophy, Optic di... OMIM:165300
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
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
Lissencephaly Due To Lis1 Mutation
Hypsarrhythmia, Atonic seizure, Progressive spastic quadriplegia, Agyria, Tetraplegia, Cavum sept... ORPHA:95232
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Hypertonia, Abnormal pyramidal sign, Peripheral axonal... OMIM:600361
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Bilateral sensorineural hearing impairment, Progressive gait ataxia, Progressive cerebellar ataxi... ORPHA:2589
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude, Frequent falls, Babinski sign, Chaddock reflex OMIM:619112
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hemiparesis, Unilateral pol... OMIM:610031
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure ORPHA:86814
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure, Cerebellar atrophy, EEG abnormality... OMIM:610003
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Bab... ORPHA:101108
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Intentio... ORPHA:397946
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Spastic paraparesis OMIM:312910
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Spasticity OMIM:615528
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Cerebellar atrophy OMIM:141500
Ravine Syndrome
Decreased body weight, Ataxia, Abnormality of the basal ganglia, Abnormal auditory evoked potenti... ORPHA:99852
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Lissencephaly 4
Hypertonia, Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microcephaly, Agenesis of c... OMIM:614019
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Cerebellar atrophy, Periventricular leukomalacia, Progressive ... OMIM:615889
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypoplasia of the pons, Hypsarrhythmia, Seizure, Cerebral cortical atrophy, Hearing imp... OMIM:617669
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Tetraplegia, Delayed myelination, Inability to walk OMIM:618331
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Hypsarrhythmia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Seizure, Pol... OMIM:611603
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epilepticus, Seizure, Myoclon... ORPHA:71277
Early Infantile Epileptic Encephalopathy
Dystonia, Hypsarrhythmia, Atonic seizure, Hyperactivity, Spasticity, Generalized clonic seizure, ... ORPHA:1934
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Rare Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum, Hypopl... ORPHA:101685
Developmental And Epileptic Encephalopathy 91
Delayed myelination, Hypsarrhythmia, Multifocal epileptiform discharges, Unsteady gait, Spasticity OMIM:617711
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Interictal epileptiform activity, Bilateral tonic-clon... ORPHA:1929
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Macrotia, Gait disturbance, Poor coordination, Myoclonic absence ... ORPHA:544254
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Onion bulb formation, Hearing impairment, Abnormal auditory evoked potentials, ... OMIM:601455
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Seizure, Failure to thrive, Hyperactivity, Tetraplegia, M... OMIM:274270
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Paraparesis, Ataxia, Hearing impairment, Optic atrophy ORPHA:99014
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Frequent falls OMIM:614228
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor... OMIM:616140
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Developmental And Epileptic Encephalopathy 30
Seizure, Stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, C... ORPHA:79263
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Spinocerebellar Ataxia 31
Limb ataxia, Sensorineural hearing impairment, Ataxia, Gait ataxia OMIM:117210
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Atypical absence seizure, Bilateral tonic-clonic seizure,... ORPHA:98795
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Impaired vibration sensation in the lower limbs, Demyelinating sensory neuropathy, Distal sensory... ORPHA:639
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n... ORPHA:2932
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Lafora Disease
Inability to walk, Hypsarrhythmia, Erratic myoclonus, Atonic seizure, Gait disturbance, Focal-ons... ORPHA:501
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Seizure, Cerebellar atrop... OMIM:617810
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Sensorineural hearing impairment, Dysmetria, Decreased nerve conduction... OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, EEG with focal epileptiform discharges, Focal-onset seizure, Hemiparesis, ... ORPHA:101071
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Peripheral axonal neu... ORPHA:497764
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... ORPHA:521406
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myocl... OMIM:615924
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Decreased body weight, Seizure, Dysplastic corpus callosum, Cerebellar a... OMIM:614833
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paroxysmal dyskinesia, Abnormal pyramidal sign, Bilateral to... ORPHA:53583
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Ataxia, Seizure, Failure to thrive OMIM:618951
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:618492
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia, Generalized myoclonic seizure ORPHA:85334
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Diffic... ORPHA:477673
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Decreased nerve conduction velocit... ORPHA:90103
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Generalized non-motor (absence... OMIM:613839
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Hearing impairment, Dysmetria, Bab... OMIM:618170
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atr... ORPHA:139485
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Seizure, Agyria, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300067
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, Impaired vib... ORPHA:3115
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Cortical dysplasia, Microcephaly, Age... OMIM:614039
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Spastic tetraplegia, Dysmetria, Decreased nerve conduct... OMIM:618404
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Onion bulb formation, Peripheral axonal neuropathy, Babinski sign, Clonus, Op... OMIM:615035
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, Seizure, Decerebrate rigidity, Optic atrophy, Pe... OMIM:245200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Myoclonus, Dysmetria, Decreased nerve c... OMIM:618356
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Paroxysmal choreoathetosis, Normal interictal EEG, Gene... OMIM:602066
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Seizure, Cerebral cortical atrophy, Subcortica... ORPHA:33445
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Gait disturbance, S... ORPHA:93952
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Bilateral tonic-clonic seizure, Seizure, Dysplastic corpus callosum, Infantile spas... ORPHA:250972
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, EEG with focal epileptiform discharges, Hypsarrhythmia, Focal-onset s... ORPHA:98820
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Demyelinating peripheral neuropathy, Progr... ORPHA:504476
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Abnormality of the pinna, Ataxia, Seizure, Cerebral co... OMIM:300983
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Choreoathetosis, Dystonia, Ataxia, Hearing impairment, Cerebral hypomyeli... OMIM:612438
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Liang-Wang Syndrome
Dystonia, Cerebral atrophy, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, ... OMIM:618729
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Hypsarrhythmia, Hypertonia, Seizure, Inferior vermis hyp... OMIM:618959
Developmental And Epileptic Encephalopathy 34
Delayed CNS myelination, Focal-onset seizure, Abnormal pyramidal sign, Focal hemiclonic seizure, ... OMIM:616645
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention ... OMIM:617964
Episodic Ataxia, Type 9
Episodic ataxia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Ton... OMIM:618924
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... ORPHA:2386
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Choreoathetosis, Spastic paraparesis, Head titubation,... OMIM:608804
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... ORPHA:2524
Polymicrogyria Due To Tubb2B Mutation
Cortical dysplasia, Hypoplasia of the pons, Oromotor apraxia, Cavum septum pellucidum, Pachygyria... ORPHA:300573
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Focal-onset seizure, Hemiparesis, Seizure, Infantile spasms, Abnormal cort... ORPHA:65683
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Focal-onset seizure, Hypoplasia of the corpus callosum, Seizure, Bilateral tonic-... ORPHA:163721
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Bradykinesia, Ankle clon... OMIM:617435
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... ORPHA:101081
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Optic atrophy OMIM:210000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Decreased motor nerve conduction velocity, Frequent falls, Incoordination, Paraparesis, D... OMIM:302800
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Abnormal autonomic nervous system ... ORPHA:139578
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Pontocerebellar Hypoplasia, Type 14
Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Hypertonia, Cerebellar hypoplasia, Bi... OMIM:619301
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Experiential epileptic aura, Focal-onset seizure, Chorea, Paroxysmal d... ORPHA:31709
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Bilateral tonic-clonic seizure, Ataxia, Cerebellar atrophy... OMIM:618093
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Seizure, Myoclonus, Cerebral calcification, Microcephaly, Choreoath... OMIM:261630
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
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
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Bilateral tonic-clonic seizure with generalized onset, Lowe... OMIM:619028
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Clumsiness, Thick cerebral cortex, Focal-onset seizure, Gait disturba... ORPHA:352582
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Spastic gait, Babinski sign, Abnormal motor nerve conduction velocity ORPHA:100998
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Spastic paraparesis, Abnormal periventricular white matter morphology, Focal-onset seiz... ORPHA:395
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Axonal loss, Seizure, Myoclonus, Babinski sign, Peripheral demyelination, Spasticity OMIM:221770
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Partial absence of cerebellar vermis, Cerebe... ORPHA:137831
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Harel-Yoon Syndrome
Inability to walk, Ataxia, Generalized non-motor (absence) seizure, Cerebellar atrophy, Optic atr... OMIM:617183
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Cerebellar hypoplasia, Bilateral ton... ORPHA:529665
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Peripheral axonal ne... OMIM:613287
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Kohlschutter-Tonz Syndrome-Like
Overweight, Hypsarrhythmia, Focal myoclonic seizure, Spasticity, Obesity, Generalized clonic seiz... OMIM:619229
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Recurrent respiratory infections, Degeneration of anterior ho... OMIM:253550
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tremor, Tongue fasciculations, Abnormal sensory nerve conduction velocity ORPHA:276435
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hypoplasia of the corpus callosum, Periventricular cysts, Cerebral atrophy, Tetraparesis, Spastic... ORPHA:255182
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
X-Linked Non-Syndromic Intellectual Disability
Moderate sensorineural hearing impairment, Bilateral tonic-clonic seizure, Seizure, Generalized n... ORPHA:777
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Impaired t... ORPHA:206448
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Abnormal autonomic nervous system ph... ORPHA:101046
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Seizure, Tongue fasciculations, Facial palsy, Myoclonus, Fasciculatio... OMIM:159950
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Hypoplasia of the corpus ca... ORPHA:457351
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Intention tremor, Generalized-onset seizure, Sta... ORPHA:98761
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Bradykinesia, Seizure, Dysplas... OMIM:614924
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Gait ... OMIM:618917
Ataxia-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Mitochondrial Complex I Deficiency, Nuclear Type 15
Seizure, Optic atrophy, Spastic tetraplegia, Peripheral demyelination OMIM:618237
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Hypsarrhythmia, Hypoplasia of the corpus c... OMIM:612164
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Hypertonia, Cerebellar hypoplasia, Bi... OMIM:619302
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Bilateral tonic-clonic seizure, Lower limb spasticity, Babin... ORPHA:100988
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Microcephaly 17, Primary, Autosomal Recessive
Macrotia, Cerebellar hypoplasia, Seizure, Failure to thrive, Simplified gyral pattern, Microcepha... OMIM:617090
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis, Diffic... ORPHA:101077
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Seizure, Small for gestation... OMIM:261640
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macrotia, Ataxia, Seizure, Spastic gait, EEG abnormality, Parkinsonism, Babinski sign, Mi... OMIM:300055
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Impaired proprioception, Mixed demyelinating and axonal polyneu... ORPHA:101085
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Ataxia, Peripheral... OMIM:604168
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, A... OMIM:603472
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Demyelinating peripheral neuropathy, Absent brainstem auditory responses, Sensorineural hearing i... OMIM:617519
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Delayed myelination OMIM:617391
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Seizure, Torticollis, Cerebella... ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Abnormality of pe... ORPHA:101001
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Seizure, Spastic tetraplegia, Simplified gyral pattern, Microcephaly, Agen... OMIM:616681
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral a... ORPHA:391417
Foxg1 Syndrome
Inability to walk, Dystonia, Agenesis of corpus callosum, Pachygyria, Difficulty walking, Focal-o... ORPHA:561854
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Myoclonic Epilepsy Of Lafora
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (... OMIM:254780
Tay-Sachs Disease
Dystonia, Clumsiness, Poor fine motor coordination, Ankle clonus, Focal impaired awareness seizur... ORPHA:845
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr... OMIM:609311
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Cystathioninuria
Seizure, Tremor ORPHA:212
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Seizure, Cerebellar atrophy, Protruding ear, Dy... OMIM:617988
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:614559
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Hearing impairment, Peripheral axonal neuropathy, Decreased nerve cond... ORPHA:101082
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination, Head titubation, Ataxia, Dysmetria, Intention tremor, Ba... OMIM:618688
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig... OMIM:312080
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Seizure, Spastic tetraplegia, Failure to thrive, Optic atrophy, Choreo... OMIM:618238
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Seizure, Cere... OMIM:224050
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:604563
Glycine Encephalopathy
Lethargy, Seizure, Myoclonus, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Tetr... OMIM:604484
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Prelingua... ORPHA:52368
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Generalized tonic seizure, Hypertonia, Exaggerated startle respon... ORPHA:163985
Cortical Malformations, Occipital
Pachygyria, EEG abnormality, Polymicrogyria, Bilateral tonic-clonic seizure OMIM:614115
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Seizure, Onion bulb formation, Babinsk... OMIM:610532
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Difficulty walking, Abnormality of coo... ORPHA:442835
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... ORPHA:64280
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... ORPHA:363654
Mental Retardation, Autosomal Recessive 57
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset sei... OMIM:617188
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Failure to thrive, Secondary m... OMIM:616281
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action... ORPHA:99950
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Gait ataxia, Peripheral demyelination OMIM:258650
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Cerebral white matter atrophy, Atonic seizure, Hypertonia,... ORPHA:79351
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia gliosis, Hypsarrhythmia, Infantile spasms, Small for gestational age, EEG... ORPHA:79243
Developmental And Epileptic Encephalopathy 17
Dystonia, Delayed myelination, Hypsarrhythmia, Chorea, Athetosis OMIM:615473
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus, Hearing i... OMIM:609056
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Seizure, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Foc... ORPHA:3077
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Bi... ORPHA:1947
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Bilateral tonic-clonic sei... ORPHA:488635
Band Heterotopia
Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Spasticity OMIM:600348
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Interictal EEG abnormality, Myoclonic seizure, Focal a... ORPHA:363558
Angelman Syndrome
Atonic seizure, Cerebral cortical atrophy, Hyperactivity, Obesity, Ataxia, Optic disc pallor, Ina... ORPHA:72
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG abnormality, Abnormal periphe... ORPHA:457205
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Microcephaly, Choreoathetos... OMIM:612716
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure