Gene Summary

Name:
sodium channel, type IV, beta
Synonyms:
LOC384934

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
tremors Scn4bem1(IMPC)Wtsi HOM Early adult 2.12×10-11
abnormal gait Scn4bem1(IMPC)Wtsi HOM Early adult 7.77×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Scn4b 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.

The table below shows human diseases associated to Scn4b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Long Qt Syndrome 10
OMIM:611819
Romano-Ward Syndrome
ORPHA:101016

The table below shows human diseases predicted to be associated to Scn4b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, Difficulty walking, Scissor gait, Spasticity OMIM:615685
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Mental Retardation, Autosomal Recessive 63
Inability to walk, Spasticity OMIM:618095
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor OMIM:300905
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Glutathionuria
Tremor OMIM:231950
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Broad-based gait OMIM:601238
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Autosomal Spastic Paraplegia Type 72
Postural tremor, Spastic gait, Rigidity ORPHA:401849
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Difficulty walking, Limb ataxia, Progressive gait ataxia, Oculomotor... ORPHA:284324
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Steppage gait OMIM:618387
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Loss of ability to walk, Blepharospasm, Oculomotor apraxia, Unsteady gait, Falls, Short... ORPHA:240094
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Gait disturbance, Lower limb spasticity, Babinski sign ORPHA:100988
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Intention tremor, Frequent falls, ... ORPHA:512260
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign OMIM:609270
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity OMIM:261640
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, F... OMIM:617225
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic gait, Babinski sign OMIM:616795
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... OMIM:133190
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Tremor, Ataxia ORPHA:99014
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait OMIM:617557
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Rigidity OMIM:233910
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Steppage gait, Spasticity OMIM:609260
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Hypermanganesemia With Dystonia 1
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Action tremor OMIM:180800
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Parkinsonism, Babinsk... ORPHA:289560
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis ORPHA:330050
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Limb fasciculations ORPHA:90117
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Spastic gait, Progressive inability to walk, Focal dyst... ORPHA:447757
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Rigidity, Ataxia OMIM:603472
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Difficulty walking, Gait disturbance, Slurre... ORPHA:206443
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apraxia, Ataxia, Choreoath... OMIM:208920
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... ORPHA:52368
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Gillespie Syndrome
Postural tremor, Slurred speech, Ataxia OMIM:206700
Parkinson Disease, Late-Onset
Dystonia, Tremor, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Dysmetria, Choreoathetosis, Spasticity OMIM:617988
Cystathioninuria
Tremor ORPHA:212
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign, S... OMIM:616505
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... ORPHA:442835
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Babi... ORPHA:64753
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Neuroferritinopathy
Dystonia, Difficulty walking, Palatal myoclonus, Chorea, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Progressive Supranuclear Palsy
Dystonia, Tremor, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Perry Syndrome
Dystonia, Tremor, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity OMIM:304700
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertonia, Tremor ORPHA:1192
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Hypertonia, Tremor OMIM:617248
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Parkins... OMIM:614298
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia OMIM:278760
Aceruloplasminemia
Dystonia, Gait ataxia, Tremor, Akinesia, Limb ataxia, Chorea, Blepharospasm, Craniofacial dystoni... ORPHA:48818
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy ORPHA:276608
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Gait disturbance, Hypertonia, Tetraparesis, Head titubat... ORPHA:99027
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Paraplegia, Attention deficit hyperactivity disorder ORPHA:79254
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Adult-Onset Dystonia-Parkinsonism
Dystonia, Eyelid apraxia, Clumsiness, Tremor, Parkinsonism with favorable response to dopaminergi... ORPHA:199351
Ataxia-Telangiectasia
Gait disturbance, Tremor, Ataxia, Spasticity ORPHA:100
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Sneddon Syndrome
Hemiplegia, Tremor OMIM:182410
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Hyperactivity, Myoclonus, Gait imbalan... ORPHA:98794
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Hyperkinetic movements, Tremor, Spasticity OMIM:300957
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Akinesia, Bradykinesia, Falls, Parkinsonism, Limb dystoni... OMIM:601104
Amish Nemaline Myopathy
Tremor ORPHA:98902
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Parkinsonism, Fasciculations, Frequent falls ORPHA:329478
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Gait ataxia, Tremor, Progressive gait ataxia, Limb ataxia, Head tremor, Chorea, Abnorma... OMIM:606002
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Oculogyric crisis, Parkinsonism, Cerebral palsy ORPHA:1578
Typhoid
Hypertonia, Lethargy, Tremor, Ataxia ORPHA:99745
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Clumsiness, Incoordination, Gait disturbance, Poor fine moto... ORPHA:845
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Falls, Babinski sign, Spast... ORPHA:447753
Sialidosis Type 1
Tremor, Gait disturbance, Slurred speech, Ataxia, Myoclonus ORPHA:812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Tremor, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Nemaline Myopathy 5
Tremor OMIM:605355
Young-Onset Parkinson Disease
Dystonia, Tremor, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia OMIM:617186
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Tremor, Poor motor coordination, Chorea, Ataxia, Limb dystonia, Athetosis, Rigidity ORPHA:25
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Rigidity ORPHA:3299
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Metachromatic Leukodystrophy
Dystonia, Tremor, Incoordination, Gait disturbance, Toe walking, Ataxia, Decerebrate rigidity, Pr... ORPHA:512
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Difficulty walking, Ataxia, Limb hypertonia, Spastic tetraplegia, Dysmetria, Limb dystoni... ORPHA:572798
Joubert Syndrome With Renal Defect
Gait disturbance, Tremor, Oculomotor apraxia, Ataxia ORPHA:220497
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Unsteady gait, Spasticity OMIM:615512
Joubert Syndrome
Gait disturbance, Tremor, Oculomotor apraxia, Ataxia ORPHA:475
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Tremor, Diaphragmatic paralysis, Difficulty walking, Gait disturbance, Hyperto... ORPHA:466768
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Clumsiness, Tremor, Speech apraxia, Progressive gait ataxia, Chorea, Ga... ORPHA:646
Alternating Hemiplegia Of Childhood
Dystonia, Choreoathetosis, Tremor, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Serotonin Syndrome
Tremor, Hypertonia, Myoclonus, Clonus, Rigidity ORPHA:43116
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Lethargy, Gait ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, G... ORPHA:254892
Mercury Poisoning
Dystonia, Tremor ORPHA:330021
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:612199
Ataxia-Telangiectasia
Dystonia, Tremor, Ataxia, Myoclonus, Choreoathetosis OMIM:208900
Romano-Ward Syndrome
ORPHA:101016
Long Qt Syndrome 10
OMIM:611819

Histopathology

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

There is no histopathology data for Scn4b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scn4b.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Scn4bem1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)