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

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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, Spasticity, Tip-toe gait, Clonus OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity OMIM:615685
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
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Steppage gait OMIM:300905
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Glutathionuria
Tremor OMIM:231950
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech ORPHA:98766
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Gait ataxia OMIM:601238
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Difficulty walking, Progressive spastic paraplegia, Limb tremor, Spastic gait, Low... ORPHA:401820
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait OMIM:182920
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sig... ORPHA:284324
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait OMIM:618387
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Loss of ambulation, Blepharospasm, Freezing of gait, Spastic dysarthria... ORPHA:240094
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Tongue fasciculations ORPHA:276435
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia OMIM:619724
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Babinski sign, Gait ataxia, Postural tremor OMIM:609270
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochokinesi... OMIM:117360
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... ORPHA:420492
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia OMIM:261640
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking ORPHA:101077
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia OMIM:615530
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia OMIM:616795
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Falls... OMIM:617225
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Dystonia OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor OMIM:254900
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... ORPHA:93952
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... OMIM:616586
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations OMIM:159950
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... ORPHA:280219
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia, Intention tremor, Dysdiadochokine... ORPHA:504476
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... OMIM:302800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Tremor, Spasticity, Steppage gait OMIM:609260
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... ORPHA:276198
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle ... OMIM:612953
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity ORPHA:33445
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity OMIM:614307
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Lower limb spasticity ORPHA:3077
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations ORPHA:90117
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Primary Progressive Freezing Gait
Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Difficulty walking, Shuffl... ORPHA:75567
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Ataxia, Rigidity OMIM:603472
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... ORPHA:102
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria OMIM:610185
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... ORPHA:228360
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Oculomotor ... OMIM:208920
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Inability to walk, Spasticity OMIM:618718
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... ORPHA:289494
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Li... ORPHA:227510
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity, Limb dystonia OMIM:616840
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait... OMIM:168601
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait OMIM:168600
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Intention tremor, Abnormal pyramidal sign, Progressi... OMIM:312080
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia, S... OMIM:616505
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance ORPHA:83629
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, W... ORPHA:157846
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spasticity, Limb d... ORPHA:363400
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor ORPHA:544254
Cystathioninuria
Tremor ORPHA:212
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramid... OMIM:614298
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Saccharopinuria
Spastic diplegia, Gait ataxia, Tremor ORPHA:3124
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus OMIM:618060
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Ataxia, Inability to walk, Hypertonia OMIM:619556
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty walking, Involuntary movements, ... ORPHA:442835
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Spasticity, Tremor OMIM:176500
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Tremor, Difficulty walking, Choreoathetosis, Gait disturbance, Steppage gait ORPHA:206594
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia ORPHA:683
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Perry Syndrome
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait OMIM:168605
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Tremor, Hypertonia ORPHA:1192
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination ORPHA:36387
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea, Cranio... ORPHA:48818
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathetosis, Clonus, ... OMIM:615673
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity ORPHA:457240
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Spasticity OMIM:304700
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Vocal cord paresis, Fasciculations, Impaired tandem gait OMIM:619574
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Dysmetria, Tremor, Gait ataxia OMIM:618056
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign... ORPHA:99027
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Dystonia OMIM:617710
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor OMIM:619790
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Dysmetria, Appendicular spasticity, Tremor, Choreoathetosis,... OMIM:617988
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Dysdiadochokinesis, Truncal ataxia, Tremor, Di... OMIM:617675
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Gait ataxia, Progressive gait ... OMIM:606002
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity OMIM:618527
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Frequent falls, Tremor, Difficulty walking, Fasciculations ORPHA:329478
Tay-Sachs Disease
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor ... ORPHA:845
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... ORPHA:98794
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hemiparesis, Tremor, Paraplegia, Spasticity OMIM:105210
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Fall... OMIM:601104
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Inability to walk, Hyperkinetic movements, Chorea, Athetosis, Tremor, Speech apraxia, Dif... OMIM:615356
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Falls, Tremor, Lower limb hypertonia,... ORPHA:447753
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity, Dystonia ORPHA:2828
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Cerebral palsy, Parkinsonism, Tremor ORPHA:1578
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Poor motor coordination, Dystonia ORPHA:25
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor OMIM:146500
Metachromatic Leukodystrophy
Ataxia, Tip-toe gait, Decerebrate rigidity, Progressive spasticity, Tremor, Frequent falls, Gait ... ORPHA:512
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Ataxia-Telangiectasia
Ataxia, Inability to walk, Progressive cerebellar ataxia, Intention tremor, Myoclonus, Dysdiadoch... OMIM:208900
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Axial dystonia, Upper motor neuron dysfunction, Clumsiness, Intention tremor, ... ORPHA:646
Long Qt Syndrome 10
OMIM:611819
Romano-Ward Syndrome
ORPHA:101016

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)