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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	3.53×10^-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 (881 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	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	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
Spastic Paraplegia 72B, Autosomal Recessive	Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait	OMIM:620606
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Cerebellar Ataxia, Benign, With Thermoanalgesia	Impaired temperature sensation, Progressive cerebellar ataxia	OMIM:212890
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Spastic Paraplegia 24, Autosomal Recessive	Spastic paraplegia, Spasticity, Clonus, Tip-toe gait	OMIM:607584
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins...	OMIM:615681
Neuhauser-Eichner-Opitz Syndrome	Spasticity, Rigidity, Hypertonia, Ataxia	ORPHA:2672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ...	OMIM:616053
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Dystonia 15, Myoclonic	Dystonia, Myoclonus, Writer's cramp	OMIM:607488
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop...	ORPHA:98765
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors...	OMIM:602629
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Impaired propri...	ORPHA:95434
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia	ORPHA:36899
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor	ORPHA:94122
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Epilepsy, Familial Adult Myoclonic, 7	Myoclonic tremor	OMIM:618075
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst...	OMIM:620456
Myoclonus, Familial, 2	Dystonia, Limb myoclonus	OMIM:618364
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia	OMIM:617018
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma...	ORPHA:98810
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia	ORPHA:1180
Spinocerebellar Ataxia Type 23	Limb ataxia, Gait ataxia, Dysmetria, Impaired proprioception, Babinski sign, Impaired distal vibr...	ORPHA:101108
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Ataxia	OMIM:208700
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait di...	ORPHA:363710
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Ataxia	OMIM:242520
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Spinocerebellar Ataxia Type 30	Limb ataxia, Gait ataxia	ORPHA:211017
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Autosomal Spastic Paraplegia Type 30	Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ...	ORPHA:101010
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Epilepsy, Progressive Myoclonic, 11	Ataxia, Myoclonus, Intention tremor, Rigidity	OMIM:618876
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Babinski sign, Dysmetria, Ataxia	OMIM:617584
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Ataxia	OMIM:619061
Spinocerebellar Ataxia 41	Unsteady gait, Gait ataxia, Ataxia	OMIM:616410
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,...	ORPHA:423275
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 10	Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor	OMIM:613728
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia	OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 22	Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,...	OMIM:616948
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Autosomal Spastic Paraplegia Type 72	Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity	ORPHA:401849
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c...	ORPHA:98763
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Ataxia	OMIM:619191
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens...	ORPHA:454887
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast...	ORPHA:314978
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Inability to walk	OMIM:615268
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Truncal ataxia, Choreoathetosis	OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Myoclonus, Ataxia	OMIM:600143
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait...	ORPHA:210571
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab...	OMIM:610245
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Apraxia, Ataxia	ORPHA:85338
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Tremor	OMIM:614369
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Difficulty walking, Dysmetria, Clumsiness, Progressive gait ataxia,...	ORPHA:284332
Spinocerebellar Ataxia 31	Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Intellectual Developmental Disorder, Autosomal Recessive 77	Head tremor, Unsteady gait	OMIM:619988
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst...	ORPHA:98811
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba...	OMIM:616981
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl...	OMIM:500003
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Steppage gait, Impaired temperature sensation, Limb fasciculations, Impaired pain sensation	ORPHA:99940
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Dystonia With Cerebellar Atrophy	Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Developmental And Epileptic Encephalopathy 92	Spasticity, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia	OMIM:617829
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Myoclonus, Hand tremor, Writer's cramp	OMIM:608105
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Ataxia	OMIM:619333
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Developmental And Epileptic Encephalopathy 69	Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Spastic tetraplegia	OMIM:618285
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr...	ORPHA:401820
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Migraine, Familial Hemiplegic, 1	Ataxia, Hemiplegia, Tremor, Hemiparesis	OMIM:141500
Combined Saposin Deficiency	Hyperkinetic movements, Babinski sign, Myoclonus, Fasciculations	OMIM:611721
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor	OMIM:302500
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:616291
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:162350
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Dystonia 26, Myoclonic	Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia	OMIM:616398
Spinocerebellar Ataxia 11	Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d...	ORPHA:53583
Ceroid Lipofuscinosis, Neuronal, 5	Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis	OMIM:256731
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor	OMIM:615386
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Spastic paraplegia, Tongue fasciculations, Limb fasciculations, Babinski sign, Gait disturbance, ...	ORPHA:329475
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo...	OMIM:606777
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Valinemia	Hyperkinetic movements	OMIM:277100
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Difficulty walking, Babinski sign, Hoffmann sign, Fasciculations	OMIM:620402
Spastic Paraplegia 70, Autosomal Recessive	Spasticity, Ankle clonus, Somatic sensory dysfunction, Fasciculations	OMIM:620323
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,...	ORPHA:284324
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea	OMIM:616939
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Progressive spastic paraplegia, Hand tremor	ORPHA:401835
Chorea, Benign Familial	Chorea	OMIM:215450
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di...	OMIM:617145
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand...	ORPHA:53351
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Dystonia 22, Juvenile-Onset	Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor...	OMIM:620453
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Unsteady gait, T...	ORPHA:453521
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia	OMIM:619028
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia	OMIM:620221
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno...	ORPHA:13
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Myoclonus, Ataxia	OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ...	ORPHA:521406
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis	OMIM:123400
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Eyelid myoclonus, Myoclonus	OMIM:618357
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti...	OMIM:610357
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Spastic Ataxia 4, Autosomal Recessive	Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax...	OMIM:613672
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Spinocerebellar Ataxia 17	Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Positive Romb...	OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
X-Linked Progressive Cerebellar Ataxia	Limb ataxia, Intention tremor, Dysmetria, Clumsiness, Babinski sign, Progressive gait ataxia, Uns...	ORPHA:1175
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi...	OMIM:607565
Spinocerebellar Ataxia 34	Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ...	OMIM:133190
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Action myoclonus, Myoclonus, Frequent falls	OMIM:616540
Spinocerebellar Ataxia Type 2	Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsonism, Kinetic tremor, Pro...	ORPHA:98756
Autosomal Recessive Spastic Paraplegia Type 48	Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,...	ORPHA:306511
Baker-Gordon Syndrome	Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere...	OMIM:618218
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p...	ORPHA:352641
Amyotrophic Lateral Sclerosis 28	Difficulty walking, Babinski sign, Chaddock reflex, Fasciculations	OMIM:620452
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait	OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Distal sensory impairment, Dysmetria, Steppage gait, Ataxia	OMIM:618387
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Ataxia, Dystonia, Spastic diplegia	OMIM:619065
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Difficulty walking, Fasciculations	OMIM:615575
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens...	ORPHA:240103
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Ataxia	OMIM:204500
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Gait ataxia, Positive Romberg sign, Babinski sign, Gait disturbance, Gait instabi...	OMIM:608984
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Fasciculations, Incoordination, Difficulty walking, Gait ataxia, Distal sensory impairment, Impai...	OMIM:616688
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem...	OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll...	OMIM:619862
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho...	ORPHA:71277
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T...	ORPHA:420492
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:204300
Episodic Ataxia, Type 5	Ataxia, Truncal ataxia, Myoclonus, Episodic ataxia	OMIM:613855
Spastic Paraplegia 10, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Distal sensory impairment, A...	OMIM:604187
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor	OMIM:619561
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Steppage gait, Distal sensory impairment, Fasciculations	OMIM:606595
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ...	OMIM:616127
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Lower limb spas...	ORPHA:100988
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore...	OMIM:620427
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ...	ORPHA:101150
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia	OMIM:254800
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Isaacs Syndrome	Distal sensory impairment, Fasciculations	ORPHA:84142
Spinocerebellar Ataxia 13	Spasticity, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyramidal sign, Impaire...	OMIM:605259
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Loss of ambulation...	ORPHA:225154
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Fasciculations	OMIM:613435
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis	OMIM:615159
Juvenile Huntington Disease	Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Ataxia, Bradykinesia, Progr...	ORPHA:248111
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Spastic Tetraplegia And Axial Hypotonia, Progressive	Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype...	OMIM:618598
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthesia, Tremor, Distal sensor...	OMIM:616719
Spinocerebellar Ataxia Type 26	Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	ORPHA:101112
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia...	OMIM:614487
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance	OMIM:618090
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc...	ORPHA:2590
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Spinocerebellar Ataxia 44	Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Fasciculations, Limb ataxia, Dysmetria, Ankle clonus, Progressive ...	ORPHA:284289
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal ataxia, Slurred speec...	ORPHA:352403
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Myoclonus	ORPHA:139406
Spinocerebellar Ataxia 4	Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia	OMIM:600223
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa...	OMIM:117360
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Distal sensory impairment, Fasciculations	OMIM:137200
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathetosis	OMIM:301020
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus...	OMIM:183090
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi...	OMIM:610185
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor...	ORPHA:504476
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Hand tremor	OMIM:253550
Alzheimer Disease 3	Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxia, Optic ...	OMIM:607822
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,...	OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Distal sensory impairment,...	OMIM:606693
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga...	OMIM:616795
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Tetraparesis, Fasciculations, Postural tremor, ...	OMIM:615491
Gerstmann-Straussler-Scheinker Syndrome	Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormality of extrapyramidal motor fu...	ORPHA:356
Ataxia-Telangiectasia-Like Disorder	Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dystonia...	ORPHA:251347
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin...	ORPHA:99750
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria, Oculomotor apraxia, Impaired distal p...	OMIM:617633
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,...	ORPHA:79263
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dystonia, Athetosis	OMIM:617493
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto...	ORPHA:401866
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Fasciculations, Distal sensory impairment, Steppage gait, Impaired distal vibration...	OMIM:614436
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Limb dystonia, Tremor, Ataxia	OMIM:620270
Developmental And Epileptic Encephalopathy 27	Myoclonus, Dystonia, Spasticity, Chorea	OMIM:616139
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Progressive Myoclonic Epilepsy With Dystonia	Hemiplegia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Abnormal pyrami...	ORPHA:352596
Perioral Myoclonia With Absences	Chin myoclonus, Falls	ORPHA:139426
Developmental And Epileptic Encephalopathy 40	Spasticity, Myoclonus, Choreoathetosis, Spastic tetraparesis	OMIM:617065
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Myoclonus, Slurred speech	ORPHA:3327
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Chorea, Bradykinesia, Ataxia	OMIM:618683
Spinocerebellar Ataxia 36	Tongue fasciculations, Fasciculations, Incoordination, Limb ataxia, Gait ataxia, Babinski sign, H...	OMIM:614153
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnormal pyrami...	ORPHA:98759
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis	OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki...	OMIM:614831
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Dyst...	OMIM:614254
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation...	OMIM:617282
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks	OMIM:254770
Myoclonic Epilepsy, Familial Infantile	Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia	OMIM:605021
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Ataxia	OMIM:274240
Developmental And Epileptic Encephalopathy 16	Dystonia, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis	OMIM:615338
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia	ORPHA:99014
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis	OMIM:619317
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Dystonia 9	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis	OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 18	Incoordination, Gait ataxia, Dysmetria, Babinski sign, Oculomotor apraxia, Ataxia, Truncal ataxia...	OMIM:616204
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia	ORPHA:306669
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Truncal ataxia, Myoclonus, Morning myoclonic jerks, Episodic ataxia	OMIM:607682
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Gait disturbance, Tetraplegia	OMIM:604484
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Gait ataxia, Dysmetria, Oculomotor apraxia, Ataxia, Intention tremor	ORPHA:208513
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Incoordination, Limb ataxia, Gait ataxia, Intenti...	OMIM:600224
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Chorioretinal coloboma	OMIM:616428
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Myoclonus, Limb tremor, Hypertonia	OMIM:300699
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Proximal Myopathy With Extrapyramidal Signs	Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w...	ORPHA:401768
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Oculomotor apraxia, Ataxia, Dystonia, Spas...	ORPHA:313772
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Progressive Myoclonic Epilepsy Type 3	Limb myoclonus, Progressive truncal ataxia, Myoclonus, Chin myoclonus, Progressive cerebellar ataxia	ORPHA:263516
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre...	OMIM:210000
Hsd10 Disease	Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Myoclonus, Erratic myoclonus, Spastic tetraplegia, Ataxia	OMIM:619971
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment	OMIM:180800
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Myoclonus, Hypertonia	OMIM:610090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Hereditary Hyperekplexia	Spasticity, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia	ORPHA:3197
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Inability to walk	OMIM:618374
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Alexander Disease	Spasticity, Dysmetria, Babinski sign, Ataxia, Palatal tremor	OMIM:203450
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls	OMIM:159950
Coenzyme Q10 Deficiency, Primary, 4	Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia	OMIM:612016
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Tremor, Distal sensory impairment, Babinski sign, Steppage gait, Hypertonia	OMIM:609260
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations	OMIM:602099
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia	OMIM:606438
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Tremor, Ataxia	OMIM:300983
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo...	ORPHA:98772
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Sandhoff Disease, Juvenile Form	Acroparesthesia, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, Ab...	ORPHA:309162
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Pontocerebellar Hypoplasia Type 4	Myoclonus, Hypertonia	ORPHA:166063
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Spinocerebellar Ataxia 10	Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr...	OMIM:603516
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Dystonia, Spasticity, Myoclonus, Ataxia	OMIM:620094
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Inability to walk, Dystonia, Opisthotonus, Parkinsonism, Apraxi...	OMIM:619653
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Ataxia	ORPHA:324290
Amyotrophic Lateral Sclerosis 1	Spasticity, Pseudobulbar paralysis, Fasciculations	OMIM:105400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Congenital Disorder Of Glycosylation, Type In	Spasticity, Myoclonus, Ataxia	OMIM:612015
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria...	ORPHA:98755
Ataxia-Telangiectasia-Like Disorder 1	Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a...	OMIM:604391
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Loss of ambulation, Oculomot...	OMIM:208920
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, L...	ORPHA:93958
Continuous Spikes And Waves During Sleep	Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia	ORPHA:725
Spinocerebellar Ataxia 6	Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v...	OMIM:183086
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr...	ORPHA:93952
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Phenylketonuria	Lower limb spasticity, Tremor, Ataxia	ORPHA:716
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal sensory ...	OMIM:302800
Neuroectodermal Melanolysosomal Disease	Spasticity, Tremor, Rigidity, Hypertonia, Ataxia	ORPHA:33445
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss of ambulation, ...	ORPHA:137898
Epilepsy, Progressive Myoclonic, 10	Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia	OMIM:616640
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia	OMIM:250620
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response	OMIM:618201
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata...	OMIM:109150
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	ORPHA:329284
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Myoclonus	OMIM:612899
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Lower limb spasticity, Steppage ga...	OMIM:615290
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, C...	ORPHA:561854
Mepan Syndrome	Spasticity, Hemidystonia, Chorea, Myoclonus, Limb dystonia, Axial dystonia, Craniofacial dystonia...	ORPHA:508093
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T...	ORPHA:90117
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Steppage gait, Somatic sensory dysfunction, Impaired distal tactile sensation, Fasciculations	OMIM:600882
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Phosphoserine Aminotransferase Deficiency	Myoclonus, Hypertonia	OMIM:610992
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Broad-based gait	OMIM:619470
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Myoclonic Epilepsy Of Infancy	Myoclonus, Poor motor coordination, Poor hand-eye coordination, Hemiplegia	ORPHA:86909
Spinocerebellar Ataxia Type 6	Blepharospasm, Incoordination, Gait ataxia, Dystonia, Babinski sign, Unsteady gait, Intention tre...	ORPHA:98758
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance, Athetosis	OMIM:618241
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 11	Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia	OMIM:614229
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Cystathioninuria	Tremor	ORPHA:212
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor function	OMIM:604218
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Fasciculations, Tetraparesis, Difficulty walking, Ankle clonus, Babinski sign, Lower ...	OMIM:613954
Autosomal Recessive Spastic Paraplegia Type 75	Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ...	ORPHA:459056
Brody Disease	Somatic sensory dysfunction, Fasciculations	OMIM:601003
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking	ORPHA:369847
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Impaired vibratory sensation, Myoclonus, Babinski sign, Abnormal pyramidal si...	OMIM:620538
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Spasticity of facial muscles, O...	OMIM:205100
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Distal sensory impairment, Babinski sign, Steppage gai...	OMIM:616505
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia	OMIM:619092
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Fasciculations, Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Frequ...	ORPHA:521411
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait ataxia, Action tremor,...	OMIM:300623
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Hypertonia	OMIM:225753
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperkinetic movements, Ataxia	OMIM:271980
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia	ORPHA:70594
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Hand tremor, Fasciculations, Limb ataxia, Ataxia	OMIM:607596
Spinocerebellar Ataxia Type 13	Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, T...	ORPHA:98768
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Apraxia, Gait disturbance, Myoclonus	OMIM:618193
Peroxisome Biogenesis Disorder 5B	Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Spasticity, Crouch gait, Myoclonus	OMIM:620145
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B...	OMIM:617435
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Spasticity, Arm dystonia, Fasciculations, Dysmetria, Ankle clonus, ...	ORPHA:88644
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin...	ORPHA:275872
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Gait disturbance, Progressive spastic paraplegia, Ataxia	OMIM:612020
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia	OMIM:607694
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic...	OMIM:128100
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis	OMIM:609056
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Ataxia, Dysdiadochokinesis	OMIM:618356
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia	OMIM:600795
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I...	ORPHA:206443
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Facial Spasm	Anisocoria	OMIM:134300
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Huntington Disease	Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ...	ORPHA:399
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Myoclonus, Ataxia	OMIM:256730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Charcot-Marie-Tooth Disease And Deafness	Distal sensory impairment, Gait disturbance, Steppage gait, Tremor	OMIM:118300
Saccharopinuria	Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia	ORPHA:3124
4H Leukodystrophy	Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,...	ORPHA:289494
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ...	OMIM:612109
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Crigler-Najjar Syndrome Type 1	Tremor	ORPHA:79234
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Tremor	OMIM:607734
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Limb a...	OMIM:164400
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Tremor, Rigidity	OMIM:615010
Ceroid Lipofuscinosis, Neuronal, 3	Loss of ambulation, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,...	OMIM:614195
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb dystonia,...	ORPHA:363400
Amyotrophic Lateral Sclerosis 8	Loss of ambulation, Postural tremor, Abnormal pyramidal sign, Fasciculations	OMIM:608627
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor	ORPHA:363722
Parkinsonian-Pyramidal Syndrome	Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ...	ORPHA:171695
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:300894
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr...	ORPHA:442835
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia	ORPHA:529665
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hyperkinetic movements, Gait disturbance, Hypertonia	OMIM:236270
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins...	OMIM:300055
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Babinski sign, Abnorma...	ORPHA:64753
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia	OMIM:252011
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus	OMIM:617235
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Juvenile Myoclonic Epilepsy	Morning myoclonic jerks	ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Inability to walk, Myoclonus, Dystonia, Clumsiness, Paraparesis, Lo...	OMIM:617854
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Speech apraxia, Intention tremor, Dysmetria, Ataxia	OMIM:619352
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Gait ataxia, Hyperkinetic movements, Babinski sign, Loss of ambulation, Ataxia	OMIM:620089
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity	ORPHA:3077
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Gait disturbance, Tremor	OMIM:300957
Narp Syndrome	Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Nipah Virus Disease	Myoclonus, Tremor	ORPHA:99825
Alexander Disease Type I	Spasticity, Abnormal pyramidal sign, Palatal tremor, Ataxia	ORPHA:363717
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Rigidity	OMIM:619057
Primary Progressive Freezing Gait	Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo...	ORPHA:75567
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber	ORPHA:3214
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations	OMIM:616437
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Gm1-Gangliosidosis, Type Iii	Myoclonus, Dystonia, Slurred speech, Ataxia	OMIM:230650
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity	ORPHA:457240
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Fasciculations, Inability...	ORPHA:101085
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Hyperekplexia 4	Myoclonus, Hypertonia	OMIM:618011
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonus, Ataxia	OMIM:618225
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ...	OMIM:312080
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Ataxia	OMIM:231000
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis	ORPHA:279914
Developmental And Epileptic Encephalopathy 1	Dystonia, Abnormal pyramidal sign, Hypertonia, Spastic tetraparesis, Erratic myoclonus, Choreoath...	OMIM:308350
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis	OMIM:312170
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Myoclonus, Intention tremor	OMIM:610539
Schindler Disease, Type I	Spasticity, Myoclonus	OMIM:609241
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168600
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Tremor, Hypertonia, Ataxia	OMIM:619556
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Loss of ambulation, Babinski sign...	ORPHA:466722
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Hyperekplexia 3	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Tremor, Distal sensory im...	ORPHA:206594
Posttransplant Acute Limbic Encephalitis	Dystonia, Myoclonus, Ataxia	ORPHA:163921
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Early-Onset Autosomal Dominant Alzheimer Disease	Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia	ORPHA:1020
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Chorea, Myoclonus, Lower limb spasticity, Unsteady gait, Upper lim...	ORPHA:485350
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Tremor	OMIM:304700
Dravet Syndrome	Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P...	ORPHA:33069
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy...	ORPHA:225147
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ...	ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida...	OMIM:606002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic movements, At...	OMIM:615356
Hyperekplexia 1	Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:149400
Mohr-Tranebjaerg Syndrome	Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr...	ORPHA:52368
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ...	ORPHA:765
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a...	OMIM:614298
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor f...	ORPHA:79279
Peho-Like Syndrome	Myoclonus	OMIM:617507
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Gait ataxia, Hoffmann sign, Bab...	OMIM:601162
Hsd10 Disease, Infantile Type	Poor coordination, Hyperkinetic movements, Loss of ambulation, Dystonia, Spastic tetraparesis, Ch...	ORPHA:391428
Pseudohypoparathyroidism Type 2	Paresthesia, Myoclonic spasms, Laryngeal dystonia	ORPHA:94090
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168605
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Optic Atrophy 11	Dysmetria, Hyperkinetic movements, Gait apraxia, Ataxia, Athetosis	OMIM:617302
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations	OMIM:619733
Developmental And Epileptic Encephalopathy 46	Limb hypertonia, Tremor	OMIM:617162
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Limb myoclonus, Clumsiness, Gait disturbance, Ataxia	ORPHA:352582
Behavioral Variant Of Frontotemporal Dementia	Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Gait disturbance, F...	ORPHA:275864
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls	ORPHA:329478
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Dystonia, Choreoathe...	OMIM:616271
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonus, Hypertonia	OMIM:618240
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Inability to walk, Hyperkinetic movements, Loss of ability to walk in early childhood...	OMIM:612073
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonus, Hypertonia	OMIM:617290
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Spasticity, Tremor	OMIM:618718
Riboflavin Transporter Deficiency	Myoclonus, Tremor, Ataxia	ORPHA:97229
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ...	OMIM:608643
Leukodystrophy, Hypomyelinating, 10	Hyperkinetic movements, Babinski sign, Spasticity, Inability to walk	OMIM:616420
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor	OMIM:619790
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spastic tetraplegia	OMIM:617710
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Distal sensory impairment,...	OMIM:617675
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Myoclonus, Babinski sign, Apraxia, Gait disturbance	OMIM:221770
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Cerebral palsy, Myoclonus, Limb dystonia, Opisthotonus, Babinski sign, Clonus, Hypert...	OMIM:619847
Myopathy With Extrapyramidal Signs	Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo...	OMIM:615673
Microtriplication 11Q24.1	Hyperkinetic movements, Speech apraxia	ORPHA:289522
Tay-Sachs Disease	Fasciculations, Incoordination, Inability to walk, Laryngeal dystonia, Myoclonus, Dysmetria, Trem...	ORPHA:845
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276244
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Gait disturbance	OMIM:620469
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Myoclonus, Rigidity	OMIM:300673
Developmental And Epileptic Encephalopathy 23	Myoclonus	OMIM:615859
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Myoclonus	OMIM:619814
Hemimegalencephaly	Myoclonus, Hemiparesis	ORPHA:99802
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus	OMIM:616158
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait, Intention tremor	OMIM:254900
D-Glyceric Aciduria	Myoclonus, Spasticity, Chorea	ORPHA:941
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor	OMIM:605355
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Myoclonus, Intention tremor, Dysmetria, Positive Romberg sign, Babinski sign, Gait disturbance, C...	OMIM:301310
X-Linked Cerebral Adrenoleukodystrophy	Limb myoclonus, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis, Ankle clonus, Hoff...	ORPHA:139396
Dystonia-Aphonia Syndrome	Generalized dystonia, Myoclonus, Gait disturbance, Oromandibular dystonia, Unsteady gait	ORPHA:412217
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Truncal ataxia, Loss of ability to walk in first decade, Ataxia	OMIM:300243
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H...	ORPHA:682
Full Schwannomatosis	Hypoesthesia, Paresthesia, Fasciculations	ORPHA:93921
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Sneddon Syndrome	Hemiplegia, Impaired distal tactile sensation, Tremor	OMIM:182410
Sialidosis Type 1	Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech	ORPHA:812
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Myoclonus, Hypertonia	ORPHA:289266
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal...	ORPHA:447753
Pontocerebellar Hypoplasia, Type 1D	Tongue fasciculations, Spasticity, Fasciculations	OMIM:618065
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Myoclonus, Opisthotonus, Oculomotor apraxi...	OMIM:614969
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Spasticity, Intention tremor, Ataxia	OMIM:117300
Juvenile Sialidosis Type 2	Spasticity, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia	ORPHA:93399
Classic Phenylketonuria	Tremor, Hemiplegia, Paraplegia, Hypertonia	ORPHA:79254
Adenylosuccinase Deficiency	Spasticity, Inability to walk, Hemiplegia, Gait ataxia, Myoclonus, Opisthotonus	OMIM:103050
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia	ORPHA:683
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Fatal Familial Insomnia	Myoclonus, Ataxia	OMIM:600072
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism	ORPHA:54
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Gait ataxia, Appendicular spasticity, Tremor, Dysmetria, Dys...	OMIM:617988
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,...	ORPHA:79098
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Myoclonus, Cerebral palsy	OMIM:617600
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Limb hypertonia, Tremor, Exaggerated startle response	OMIM:620327
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t...	ORPHA:364055
Tetanus	Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia	ORPHA:3299
Neurogenic Arthrogryposis Multiplex Congenita	Fasciculations	ORPHA:1143
3-Methylglutaconic Aciduria Type 7	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram...	ORPHA:445038
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:614299
Combined Oxidative Phosphorylation Deficiency 27	Tetraparesis, Chorea, Myoclonus, Opisthotonus, Dystonia	OMIM:616672
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Myoclonus, Hypertonia	ORPHA:79096
Cog8-Cdg	Myoclonus, Ataxia	ORPHA:95428
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Myoclonus	ORPHA:411986
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Spastic tetraparesis, Myoclonus, Hypertonia	ORPHA:284417
Neuraminidase Deficiency	Myoclonus, Dysmetria, Slurred speech	OMIM:256550
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Gait ataxia, Myoclonus, Positive Romberg sign, Impaired distal prop...	ORPHA:70595
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Sandhoff Disease	Ataxia, Spasticity, Fasciculations, Impaired temperature sensation, Exaggerated startle response,...	OMIM:268800
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi...	OMIM:234200
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Myoclonus	OMIM:619060
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Inability to walk, Myoclonus, Gait disturbance, Ataxia, Cortical myoclonus	ORPHA:168491
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonus, Opisthotonus, Hypertonia, Spastic tetraplegia	OMIM:615851
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis	ORPHA:25
Coenzyme Q10 Deficiency, Primary, 1	Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia	OMIM:607426
Sandhoff Disease, Infantile Form	Spasticity, Myoclonus, Exaggerated startle response	ORPHA:309155
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonus, Appendicular spasticity, Opisthotonus, Clonus	OMIM:620352
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Chorea, Gait ataxia, Myoclonus, Ataxia, Dystonia, Spastic tetraplegia	OMIM:618321
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Kufor-Rakeb Syndrome	Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins...	ORPHA:306674
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Myoclonus, Ataxia	OMIM:560000
Coats Disease	Leukocoria	OMIM:300216
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Myoclonus, Gait ataxia, Dysmetria, Positive Romberg sign, Impaired distal propr...	OMIM:607459
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ...	OMIM:605711
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Upper motor neuron dysfunction, Waddling gait, Fasciculations	ORPHA:52430
Leigh Syndrome	Spasticity, Involuntary movements, Chorea, Abnormality of extrapyramidal motor function, Hyperkin...	ORPHA:506
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Generalized dystonia, Myoclonus, Opisthotonus, Babinski sign, Oculomotor apraxia, Clo...	OMIM:618076
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Gait imbalance, Myoclonus, Tremor, Ataxia	ORPHA:98794
Poliomyelitis	Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
Brain-Lung-Thyroid Syndrome	Involuntary movements, Falls, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Ap...	ORPHA:209905
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia	ORPHA:2828
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Rheumatic Fever	Chorea, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Ataxia-Telangiectasia	Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slu...	OMIM:208900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Dystonia, Myoclonus, Appendicular spasticity	OMIM:617669
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa...	ORPHA:522077
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa...	OMIM:601104
Serotonin Syndrome	Myoclonus, Tremor, Rigidity, Clonus, Hypertonia	ORPHA:43116
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensory impairme...	ORPHA:99956
Sialuria	Hyperkinetic movements	ORPHA:3166
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dystonia, Myoclonus, Ataxia	OMIM:619167
D-Glyceric Aciduria	Spasticity, Myoclonus, Appendicular spasticity, Opisthotonus, Spastic tetraplegia	OMIM:220120
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Spasticity, Myoclonus, Vocal cord paralysis	ORPHA:500144
Developmental And Epileptic Encephalopathy 89	Spasticity, Tetraparesis, Hyperkinetic movements, Hypertonia, Dystonia	OMIM:619124
Pediatric-Onset Graves Disease	Hyperkinetic movements, Tremor	ORPHA:525731
Choreoacanthocytosis	Blepharospasm, Poor motor coordination, Involuntary movements, Impaired vibratory sensation, Fall...	ORPHA:2388
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P...	ORPHA:512
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Spastic tetraplegia	OMIM:614462
Peho Syndrome	Myoclonus	OMIM:260565
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Myoclonus, Hypertonia	ORPHA:3078
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkine...	OMIM:615273
Intellectual Developmental Disorder, Autosomal Dominant 54	Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, A...	OMIM:617799
Infantile Krabbe Disease	Hyperesthesia, Spasticity, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebr...	ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, Exaggerated startle ...	OMIM:620451
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonus, Facial-lingual fasciculations, Spastic tetraplegia, Exaggerated startle re...	OMIM:617281
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Fasciculations, Tetraplegia, Ataxia, Dystonia, Progressive spasticity	ORPHA:496641
Myoclonic Epilepsy Of Lafora 1	Apraxia, Gait disturbance, Myoclonus	OMIM:254780
Congenital Sialidosis Type 2	Spasticity, Myoclonus, Dysmetria, Ataxia	ORPHA:93400
Amyotrophic Lateral Sclerosis	Babinski sign, Spasticity, Paralysis, Fasciculations	ORPHA:803
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Opsoclonus-Myoclonus Syndrome	Rigidity, Myoclonus, Limb myoclonus, Ataxia	ORPHA:1183
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab...	ORPHA:67042
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia, ...	ORPHA:404454
Glucocorticoid Deficiency 2	Spastic tetraparesis, Myoclonus	OMIM:607398
Neuroblastoma, Susceptibility To, 1	Myoclonus, Ataxia	OMIM:256700
Niemann-Pick Disease Type C	Cataplexy, Speech apraxia, Chorea, Myoclonus, Limb dystonia, Tremor, Axial dystonia, Progressive ...	ORPHA:646
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Babinski sign, Spasticity, Myoclonus	ORPHA:364028
Tick-Borne Encephalitis	Tongue fasciculations, Somatic sensory dysfunction, Incoordination, Speech apraxia, Tremor, Hyper...	ORPHA:297
Combined Oxidative Phosphorylation Deficiency 57	Dystonia, Myoclonus	OMIM:620167
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Orofaciodigital Syndrome Type 3	Spasticity, Oculomotor apraxia, Myoclonus	ORPHA:2752
Immunodeficiency 23	Cortical myoclonus, Myoclonus, Somatic sensory dysfunction, Ataxia	OMIM:615816
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea	ORPHA:370959
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Myoclonus, Hyperkinetic movements, Dystonia, Hypertonia, Unsteady gait, Choreoathetosis	ORPHA:17
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Inability to walk, Myoclonus, Tremor, Lower limb spasticity, Ataxia, Upper limb spast...	OMIM:619229
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Lower limb hypertonia	OMIM:301072
Angelman Syndrome	Broad-based gait, Inability to walk, Myoclonus, Tremor, Ataxia	ORPHA:72
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus	OMIM:614922
Scorpion Envenomation	Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia	ORPHA:466677
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Lafora Disease	Spasticity, Inability to walk, Myoclonus, Gait disturbance, Ataxia, Erratic myoclonus	ORPHA:501
Hyperphosphatasia-Intellectual Disability Syndrome	Gait disturbance, Oculomotor apraxia, Myoclonus, Ataxia	ORPHA:247262
Neuroblastoma	Antalgic gait, Myoclonus, Ataxia	ORPHA:635
Unilateral Polymicrogyria	Involuntary movements, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spastic tetraplegia, Poor ...	ORPHA:268943
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
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Myoclonus, Distal sensory impairment, Torticollis, Ataxia, Spast...	OMIM:609136
Fabry Disease	Paresthesia, Fasciculations	OMIM:301500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Myoclonus	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Myoclonus, Clonus, Spastic tetraplegia	OMIM:619055
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonus, Ankle clonus, Hypertonia, Exaggerated startle response, Dystonia	OMIM:620423
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Myoclonus, Hypertonia, Ataxia	OMIM:618426
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Myoclonus	ORPHA:251004
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hyperkinetic movements, Spasticity, Abnormal pyramidal sign, Hypertonia	ORPHA:468631
Early Infantile Epileptic Encephalopathy	Spasticity, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis	ORPHA:1934
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Ch...	ORPHA:217253
3-Hydroxy-3-Methylglutaric Aciduria	Myoclonus, Spasticity, Spastic hemiparesis, Ataxia	ORPHA:20
Combined Oxidative Phosphorylation Deficiency 14	Myoclonus	OMIM:614946
Neutral Lipid Storage Disease With Myopathy	Difficulty walking, Fasciculations	OMIM:610717
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Chorea, Myoclonus, Choreoathetosis	OMIM:619777
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Inability to walk, Hemiplegia, Myoclonus, Limb dystonia, Limb hypertonia, Dystonia	OMIM:616973
Ethylene Glycol Poisoning	Myoclonus, Slurred speech, Ataxia	ORPHA:31826
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia	OMIM:203700
African Trypanosomiasis	Involuntary movements, Somatic sensory dysfunction, Fasciculations, Abnormal central motor functi...	ORPHA:3385
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Spasticity, Fasciculations, Myoclonus, Hypertonia	ORPHA:284339
Listeriosis	Somatic sensory dysfunction, Myoclonus, Tremor, Hemiparesis, Ataxia	ORPHA:533
Oculodentodigital Dysplasia	Cataract, Microcornea, Abnormality iris morphology	ORPHA:2710
Neutral Lipid Storage Myopathy	Difficulty walking, Fasciculations	ORPHA:98908
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Dystonia, Myoclonus, Tetraplegia	OMIM:618278
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Crimean-Congo Hemorrhagic Fever	Fasciculations	ORPHA:99827

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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