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Gene: Kcnv1 MGI:1914748

Gene Summary

Name:

potassium channel, subfamily V, member 1

Synonyms:

2700023A03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal vocalization		Kcnv1^em1(IMPC)J	HOM		Early adult	4.94×10^-05
iris synechia		Kcnv1^em1(IMPC)J	HOM		Early adult	6.75×10^-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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Kcnv1 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.

Human diseases associated with Kcnv1 (0 diseases)
Human diseases predicted to be associated with Kcnv1 (875 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kcnv1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Impaired temperature sensation	OMIM:212890
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Spastic Paraplegia 24, Autosomal Recessive	Spasticity, Spastic paraplegia, Clonus, Tip-toe gait	OMIM:607584
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Dystonia 15, Myoclonic	Dystonia, Writer's cramp, Myoclonus	OMIM:607488
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low...	OMIM:615625
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim...	ORPHA:95434
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Epilepsy, Familial Adult Myoclonic, 7	Myoclonic tremor	OMIM:618075
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia	ORPHA:1180
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Ataxia	OMIM:242520
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Cerebral Palsy, Ataxic, Autosomal Recessive	Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia Type 30	Limb ataxia, Gait ataxia	ORPHA:211017
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Epilepsy, Progressive Myoclonic, 11	Rigidity, Ataxia, Myoclonus, Intention tremor	OMIM:618876
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Ataxia, Spastic tetraparesis	OMIM:619061
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia	OMIM:617769
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Autosomal Spastic Paraplegia Type 72	Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles	ORPHA:401849
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus	OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia	OMIM:615268
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Ataxia, Apraxia	ORPHA:85338
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv...	ORPHA:284332
Spinocerebellar Ataxia 31	Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Developmental And Epileptic Encephalopathy 37	Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M...	OMIM:616981
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Limb fasciculations, Steppage gait, Impaired temperature sensation, Impaired pain sensation	ORPHA:99940
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor	OMIM:619988
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi...	OMIM:605259
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia	OMIM:611694
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Ataxia	OMIM:619333
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618285
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ...	ORPHA:401820
Combined Saposin Deficiency	Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements	OMIM:611721
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Lichtenstein-Knorr Syndrome	Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:162350
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation	OMIM:256731
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Valinemia	Hyperkinetic movements	OMIM:277100
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Babinski sign, Spastic paraplegia, Limb fasciculations, Gait disturbance, Tongue fasciculations, ...	ORPHA:329475
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Spastic Paraplegia 70, Autosomal Recessive	Ankle clonus, Spasticity, Fasciculations, Somatic sensory dysfunction	OMIM:620323
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Chorea, Benign Familial	Chorea	OMIM:215450
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr...	ORPHA:453521
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Ataxia, Myoclonus	OMIM:545000
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,...	ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Myoclonus	OMIM:204500
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations...	ORPHA:276198
Spastic Paraplegia 30, Autosomal Dominant	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti...	OMIM:610357
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance	OMIM:609161
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ...	OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert...	OMIM:613672
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in...	OMIM:607565
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Epilepsy, Progressive Myoclonic, 9	Action myoclonus, Frequent falls, Myoclonus, Gait ataxia	OMIM:616540
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston...	OMIM:618218
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations, Difficulty walking	OMIM:615575
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I...	OMIM:616688
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204300
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Steppage gait, Fasciculations, Distal sensory impairment	OMIM:606595
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Spastic Paraplegia 10, Autosomal Dominant	Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Spastic paraplegia, Impaired vibratio...	OMIM:604187
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi...	OMIM:616127
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para...	ORPHA:100988
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Isaacs Syndrome	Fasciculations, Distal sensory impairment	ORPHA:84142
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Fasciculations	OMIM:613435
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:615159
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ...	OMIM:614487
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:618598
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ...	ORPHA:284289
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at...	ORPHA:352403
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho...	OMIM:615491
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks	OMIM:254770
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ...	OMIM:117360
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Fasciculations, Distal sensory impairment	OMIM:137200
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls	OMIM:301020
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns...	OMIM:183090
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Limb dystonia	OMIM:620270
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai...	OMIM:607822
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Hand tremor	OMIM:253550
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga...	OMIM:616795
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax...	ORPHA:251347
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Spinocerebellar Ataxia, Autosomal Recessive 26	Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ...	OMIM:617633
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity	OMIM:617493
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc...	OMIM:614436
Thyrocerebrorenal Syndrome	Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis	OMIM:617065
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Spinocerebellar Ataxia 36	Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation...	OMIM:614153
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Perioral Myoclonia With Absences	Falls, Chin myoclonus	ORPHA:139426
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618497
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasti...	OMIM:614254
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus	OMIM:274240
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon...	ORPHA:356
Myoclonic Epilepsy, Familial Infantile	Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia	OMIM:605021
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:619317
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 18	Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia...	OMIM:616204
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations	OMIM:604484
Spinocerebellar Ataxia 10	Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad...	OMIM:603516
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysmetria, Gait ataxia, L...	OMIM:600224
Spinocerebellar Ataxia Type 29	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Intention tremor	ORPHA:208513
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares...	ORPHA:313772
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Limb tremor, Myoclonus	OMIM:300699
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia	OMIM:607682
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi...	ORPHA:401866
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus	OMIM:619971
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Roussy-Levy Hereditary Areflexic Dystasia	Distal sensory impairment, Action tremor, Upper limb postural tremor, Gait ataxia	OMIM:180800
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus	ORPHA:263516
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Hypertonia, Myoclonus	OMIM:610090
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements	OMIM:618374
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls	OMIM:159950
Hereditary Hyperekplexia	Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor	OMIM:203450
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia	OMIM:612016
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Babinski sign, Abnormal pyramidal sign, Fasciculations	OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity	OMIM:609260
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Sandhoff Disease, Juvenile Form	Incoordination, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Fa...	ORPHA:309162
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia	OMIM:250620
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno...	ORPHA:280219
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia	OMIM:300983
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Myoclonus, Dystonia	OMIM:620094
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo...	OMIM:619653
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula...	ORPHA:90117
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Amyotrophic Lateral Sclerosis 1	Pseudobulbar paralysis, Fasciculations, Spasticity	OMIM:105400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus	OMIM:612015
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy...	OMIM:604391
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ...	OMIM:208920
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait...	ORPHA:93952
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Hypertonia, Spasticity	ORPHA:33445
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v...	ORPHA:137898
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness	ORPHA:725
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair...	OMIM:302800
Spinocerebellar Ataxia 6	Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,...	OMIM:183086
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus	ORPHA:166063
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity	OMIM:616640
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Spasticity, Myoclonus	OMIM:618201
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni...	ORPHA:508093
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation	OMIM:600882
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai...	OMIM:615290
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Dyston...	ORPHA:561854
Amyotrophic Lateral Sclerosis 8	Postural tremor, Loss of ambulation, Abnormal pyramidal sign, Fasciculations	OMIM:608627
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g...	OMIM:617013
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus	OMIM:610992
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Spastic tetraparesis	OMIM:619470
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Loss of ambulation	OMIM:618241
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cystathioninuria	Tremor	ORPHA:212
Spinocerebellar Ataxia, Autosomal Recessive 11	Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia	OMIM:614229
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Difficulty walk...	OMIM:613954
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Brody Disease	Somatic sensory dysfunction, Fasciculations	OMIM:601003
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro...	OMIM:607454
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper...	OMIM:205100
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Limb ataxia, Hand tremor, Tongue fasciculations, Fasciculations	OMIM:607596
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste...	OMIM:616505
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Ataxia, Myoclonus	OMIM:256730
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus	OMIM:225753
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in th...	ORPHA:352641
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Spinocerebellar Ataxia Type 13	Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Clumsiness, Gait ataxi...	ORPHA:98768
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Developmental And Epileptic Encephalopathy 109	Spasticity, Crouch gait, Myoclonus, Gait ataxia	OMIM:620145
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Ataxia, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Frontotemporal Dementia With Motor Neuron Disease	Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres...	ORPHA:275872
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness...	ORPHA:88644
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperkinetic movements, Ataxia	OMIM:271980
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus	OMIM:609056
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention tremor	OMIM:618356
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity	OMIM:607694
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Ceroid Lipofuscinosis, Neuronal, 3	Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus	OMIM:204200
Facial Spasm	Anisocoria	OMIM:134300
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Unsteady gait, Fasciculations, Difficulty walking, ...	ORPHA:464282
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Crigler-Najjar Syndrome Type 1	Tremor	ORPHA:79234
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep...	OMIM:164400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram...	ORPHA:289494
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa...	ORPHA:363400
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor	ORPHA:363722
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin...	ORPHA:171695
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Neuroferritinopathy	Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Head titubation, Inability t...	ORPHA:300605
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Neutral Lipid Storage Disease With Myopathy	Fasciculations, Difficulty walking	OMIM:610717
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Truncal ataxia, Myoclonus, Dystonia, Spasticity	OMIM:252011
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus	OMIM:617235
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Inability to walk, Fasciculations	ORPHA:206546
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Hyperekplexia 4	Hypertonia, Myoclonus	OMIM:618011
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Juvenile Myoclonic Epilepsy	Morning myoclonic jerks	ORPHA:307
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Speech apraxia, Ataxia, Dysmetria, Intention tremor	OMIM:619352
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambulation, Spasticity	OMIM:620089
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ...	ORPHA:521411
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Intellectual Developmental Disorder, X-Linked 12	Tremor, Spasticity, Hyperkinetic movements, Gait disturbance	OMIM:300957
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait	ORPHA:3077
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
Alexander Disease Type I	Palatal tremor, Abnormal pyramidal sign, Ataxia, Spasticity	ORPHA:363717
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D...	ORPHA:75567
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations	OMIM:616437
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus	OMIM:619057
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ...	ORPHA:101085
Schindler Disease, Type I	Spasticity, Myoclonus	OMIM:609241
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus	OMIM:618225
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance	ORPHA:457240
Narp Syndrome	Progressive gait ataxia, Babinski sign, Ataxia, Myoclonic spasms	ORPHA:644
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Myoclonus, Intention tremor	OMIM:610539
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Benign Familial Neonatal Epilepsy	Limb myoclonus, Clonus	ORPHA:1949
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia	OMIM:312170
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystonia, Erratic myo...	OMIM:308350
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr...	ORPHA:466722
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus, Dystonia	ORPHA:163921
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Tremor, Inability to walk, Hypertonia, Ataxia	OMIM:619556
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy...	OMIM:615356
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia	OMIM:304700
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit...	ORPHA:485350
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, My...	ORPHA:79279
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Peho-Like Syndrome	Myoclonus	OMIM:617507
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement...	ORPHA:391428
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations	OMIM:619733
Developmental And Epileptic Encephalopathy 46	Tremor, Limb hypertonia	OMIM:617162
Familial Infantile Myoclonic Epilepsy	Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus	ORPHA:352582
Behavioral Variant Of Frontotemporal Dementia	Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro...	ORPHA:275864
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements	OMIM:617302
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Riboflavin Transporter Deficiency	Tremor, Ataxia, Myoclonus	ORPHA:97229
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Inability to walk, Athetosis, Hyperkinetic movements,...	OMIM:612073
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spast...	OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus	OMIM:618240
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Myoclonus	OMIM:617290
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor	OMIM:619790
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Spasticity	OMIM:618718
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements	OMIM:616420
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Gait disturbance, Myoclonus, Apraxia, Spasticity	OMIM:221770
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Limb hypertonia	OMIM:617710
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ...	OMIM:619847
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ...	OMIM:615673
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276244
Microtriplication 11Q24.1	Speech apraxia, Hyperkinetic movements	ORPHA:289522
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Developmental And Epileptic Encephalopathy 23	Myoclonus	OMIM:615859
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Hemimegalencephaly	Hemiparesis, Myoclonus	ORPHA:99802
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu...	ORPHA:845
Developmental And Epileptic Encephalopathy 101	Myoclonus, Opisthotonus	OMIM:619814
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus	OMIM:616158
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls	ORPHA:329478
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor	OMIM:605355
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Oromandibular dystonia	ORPHA:412217
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor	OMIM:254900
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Ataxia, Loss of ability to walk in first decade, Truncal ataxia	OMIM:300243
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus	ORPHA:812
Sneddon Syndrome	Tremor, Hemiplegia, Impaired distal tactile sensation	OMIM:182410
Adenylosuccinase Deficiency	Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypertonia, Myoclonus	ORPHA:289266
Pontocerebellar Hypoplasia, Type 1D	Spasticity, Tongue fasciculations, Fasciculations	OMIM:618065
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasciculations, Myo...	OMIM:614969
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity	ORPHA:93399
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Spasticity, Ataxia, Intention tremor	OMIM:117300
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Hypertonia, Myoclonus	ORPHA:79096
Full Schwannomatosis	Hypoesthesia, Paresthesia, Fasciculations	ORPHA:93921
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Classic Phenylketonuria	Tremor, Hypertonia, Hemiplegia, Paraplegia	ORPHA:79254
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus	OMIM:617600
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t...	ORPHA:364055
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles	ORPHA:3299
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Fatal Familial Insomnia	Ataxia, Myoclonus	OMIM:600072
Sympathetic Ophthalmia	Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,...	ORPHA:79098
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho...	OMIM:617988
Neurogenic Arthrogryposis Multiplex Congenita	Fasciculations	ORPHA:1143
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex...	ORPHA:445038
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Fasciculations, Limb hypertonia	OMIM:620327
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:614299
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia	OMIM:616672
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Myoclonus	ORPHA:411986
Cog8-Cdg	Ataxia, Myoclonus	ORPHA:95428
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypertonia, Myoclonus, Spastic tetraparesis	ORPHA:284417
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,...	OMIM:268800
Neuraminidase Deficiency	Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Positive Romberg sign,...	ORPHA:70595
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Myoclonus	OMIM:619060
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus	ORPHA:168491
Pontocerebellar Hypoplasia, Type 2E	Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Spasticity	OMIM:615851
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia	OMIM:607426
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus	OMIM:620352
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia	ORPHA:25
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity	ORPHA:309155
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Coats Disease	Leukocoria	OMIM:300216
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia	OMIM:618321
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci...	OMIM:605711
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus	OMIM:560000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d...	OMIM:607459
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance	ORPHA:98794
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Fasciculations, Upper motor neuron dysfunction	ORPHA:52430
Leigh Syndrome	Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic...	ORPHA:506
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si...	ORPHA:466768
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Neurodevelopmental Disorder With Spasticity And Poor Growth	Generalized dystonia, Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hypertonia, Myoclonus, Oc...	OMIM:618076
Rheumatic Fever	Hemiballismus, Chorea, Gait disturbance, Fasciculations	ORPHA:3099
Brain-Lung-Thyroid Syndrome	Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Fal...	ORPHA:209905
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Myoclonus, Dystonia	OMIM:617669
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr...	ORPHA:522077
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hypertonia, Myoclonus	ORPHA:43116
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Developmental And Epileptic Encephalopathy 89	Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Spasticity	OMIM:619124
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Myoclonus, Dystonia	OMIM:619167
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Vocal cord paralysis, Myoclonus, Dystonia	ORPHA:500144
Sialuria	Hyperkinetic movements	ORPHA:3166
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Myoclonus	OMIM:614462
Pediatric-Onset Graves Disease	Tremor, Hyperkinetic movements	ORPHA:525731
Pseudohypoparathyroidism Type 2	Laryngeal dystonia, Paresthesia, Myoclonic spasms	ORPHA:94090
D-Glyceric Aciduria	Spastic tetraplegia, Spasticity, Myoclonus, Opisthotonus	OMIM:220120
Peho Syndrome	Myoclonus	OMIM:260565
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Hypertonia, Myoclonus	ORPHA:3078
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, A...	OMIM:617799
Infantile Krabbe Disease	Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid...	ORPHA:206436
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, Spasticity	ORPHA:496641
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ...	OMIM:615273
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas...	OMIM:617281
Myoclonic Epilepsy Of Lafora	Gait disturbance, Myoclonus, Apraxia	OMIM:254780
Congenital Sialidosis Type 2	Spasticity, Ataxia, Myoclonus, Dysmetria	ORPHA:93400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus	OMIM:246450
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,...	ORPHA:79139
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal...	ORPHA:646
Neuroblastoma, Susceptibility To, 1	Ataxia, Myoclonus	OMIM:256700
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Paralysis, Tremor, Hyperkinetic move...	ORPHA:297
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Spasticity, Babinski sign, Myoclonus	ORPHA:364028
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Dystonia, Oculomotor apr...	ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Dystonia	OMIM:620167
Microcephaly-Capillary Malformation Syndrome	Myoclonus, Spastic tetraparesis	OMIM:614261
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus, Dystonia	ORPHA:17
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Ataxia, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal ataxia, Spasticity	OMIM:301072
Orofaciodigital Syndrome Type 3	Oculomotor apraxia, Spasticity, Myoclonus	ORPHA:2752
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Tremor, Inability to walk, Upper limb spasticity, Myoclonus, Spast...	OMIM:619229
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus	OMIM:615816
Angelman Syndrome	Broad-based gait, Ataxia, Tremor, Inability to walk, Myoclonus	ORPHA:72
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus	OMIM:614922
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus	ORPHA:466677
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity	ORPHA:501
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Ataxia, Myoclonus, Gait disturbance	ORPHA:247262
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Developmental And Epileptic Encephalopathy 2	Inability to walk, Myoclonus	OMIM:300672
Whipple Disease	Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Fabry Disease	Paresthesia, Fasciculations	OMIM:301500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Myoclonus	ORPHA:314655
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Spastic tetraplegia, Distal sensory impairment, Myoclonus, Spastic parapares...	OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Clonus, Myoclonus	OMIM:619055
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Myoclonus	ORPHA:251004
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Hypertonia, Ataxia, Myoclonus	OMIM:618426
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements	ORPHA:468631
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo...	ORPHA:217253
Combined Oxidative Phosphorylation Deficiency 14	Myoclonus	OMIM:614946
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity	ORPHA:1934
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Ataxia, Myoclonus, Spastic hemiparesis	ORPHA:20
Farber Disease	Paraparesis, Spasticity, Myoclonus	ORPHA:333
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Developmental And Epileptic Encephalopathy 100	Choreoathetosis, Chorea, Myoclonus, Gait ataxia	OMIM:619777
Melas	Abnormal central motor function, Ataxia, Hemiparesis, Gait disturbance, Myoclonus	ORPHA:550
Pgm3-Cdg	Ataxia, Myoclonus, Cortical myoclonus	ORPHA:443811
Ethylene Glycol Poisoning	Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Cerebral palsy, Inability to walk, Myoclonus, Dystonia, Hemiplegia, Limb hypertonia	OMIM:616973
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis	OMIM:203700
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:284339
Listeriosis	Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus	ORPHA:533
Oculodentodigital Dysplasia	Microcornea, Cataract, Abnormality iris morphology	ORPHA:2710
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Unsteady gait, Involuntary movements, Myoclonus	ORPHA:3063
Lathosterolosis	Myoclonus	ORPHA:46059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Dystonia	OMIM:618278
Kinsship Syndrome	Myoclonus, Spastic tetraparesis	OMIM:619297
Neutral Lipid Storage Myopathy	Fasciculations, Difficulty walking	ORPHA:98908
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Involuntary movements, Inability to walk, Myoclon...	ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus	OMIM:253280
Crimean-Congo Hemorrhagic Fever	Fasciculations	ORPHA:99827
Doors Syndrome	Myoclonus	ORPHA:79500

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 Kcnv1

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 Kcnv1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations.	eNeuro (January 2019)	Kcnv1^{tm1a(KOMP)Wtsi}	PMC6393689

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kcnv1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kcnv1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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