Gene Summary

Name:
potassium channel, subfamily V, member 1
Synonyms:
2700023A03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vocalization Kcnv1em1(IMPC)J HOM Early adult 4.94×10-05
iris synechia Kcnv1em1(IMPC)J HOM Early adult 3.53×10-07

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Spastic Paraplegia 24, Autosomal Recessive
Tip-toe gait, Spastic paraplegia, Spasticity, Clonus OMIM:607584
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, 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
Ataxia, Intention tremor OMIM:190200
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Dystonia 6, Torsion
Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Writer's cramp, Torticollis, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Myoclonus, Familial, 2
Limb myoclonus, Dystonia OMIM:618364
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus OMIM:614860
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia, Involuntary movements 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
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Dysmetria, Myoclonus OMIM:619191
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Hyperkinetic movements OMIM:613721
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... 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
Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Myoclonus, Choreoathetosis OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... 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
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Spinocerebellar Ataxia 31
Limb ataxia, Ataxia, Gait ataxia OMIM:117210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Rigidity, Myoclo... OMIM:616981
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Lingual dystonia, Poor motor coordinat... OMIM:500003
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired pain sensation, Limb fasciculations, Steppage gait, Impaired temperature sensation ORPHA:99940
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Dystonia With Cerebellar Atrophy
Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Dystonia OMIM:611694
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:617829
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Hand tremor, Paroxysmal dystonia, Myoclonus OMIM:608105
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Dystonia, Myoclonus, Spastic tetraplegia OMIM:618285
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Progressive ... ORPHA:401820
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Myoclonus OMIM:162350
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance OMIM:608030
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Dystonia, Myoclonus, Laryngeal dystonia OMIM:616398
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clumsiness, Dysmetria OMIM:256731
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic gait, Babinski sign, Limb fasciculations, Tongue fasciculations, Gait disturbance, Spasti... ORPHA:329475
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Valinemia
Hyperkinetic movements OMIM:277100
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Difficulty walking, Fasciculations OMIM:620402
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Somatic sensory dysfunction, Ankle clonus OMIM:620323
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Chorea, Benign Familial
Chorea OMIM:215450
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Ataxia, Ankle clonus, Dys... OMIM:610357
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall... ORPHA:216873
Spastic Ataxia 4, Autosomal Recessive
Limb ataxia, Babinski sign, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Spastic parapares... OMIM:613672
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Gait ataxia,... OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Dysdiadochokinesis... ORPHA:1175
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Ataxi... OMIM:133190
Epilepsy, Progressive Myoclonic, 9
Action myoclonus, Myoclonus, Frequent falls, Gait ataxia OMIM:616540
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Fasciculations, Chorea, Gait ataxia, Dystonia, Parkinsonism, Postu... ORPHA:98756
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Progressi... ORPHA:306511
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Involuntary movements, Dyston... OMIM:618218
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations OMIM:620452
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Dystonia, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Difficulty walking OMIM:615575
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord... OMIM:616688
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Somatic sensory dysfunction,... OMIM:619862
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Abnormality of extrapyramidal motor function, Ataxia, Myoclonus OMIM:204300
Episodic Ataxia, Type 5
Truncal ataxia, Ataxia, Episodic ataxia, Myoclonus OMIM:613855
Spastic Paraplegia 10, Autosomal Dominant
Spastic gait, Babinski sign, Distal sensory impairment, Lower limb spasticity, Impaired vibration... OMIM:604187
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Steppage gait, Distal sensory impairment OMIM:606595
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... ORPHA:726
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se... ORPHA:100988
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Isaacs Syndrome
Fasciculations, Distal sensory impairment ORPHA:84142
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration... OMIM:605259
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Gait ataxia OMIM:620174
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Tongue fasciculations, Loss of ambulation OMIM:613435
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia, Ataxia OMIM:615159
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Gait ataxia, Rigidity, Dys... ORPHA:248111
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity OMIM:614808
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Gait disturbance, Involuntary movements, Limb dy... OMIM:612067
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Dystonia, Ataxia, Spastic ataxia, Myoclonus, ... OMIM:614487
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia ORPHA:101112
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Ank... ORPHA:284289
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Intention tremor, ... ORPHA:352403
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria OMIM:600223
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Distal sensory impairment OMIM:137200
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Frequent falls, Unsteady gait, Ataxia, Myoclonus, Choreoathetosis OMIM:301020
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor OMIM:253550
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Spastic tetra... OMIM:607822
Microphthalmia/Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Unsteady gai... OMIM:616795
Gerstmann-Straussler-Scheinker Syndrome
Abnormality of extrapyramidal motor function, Dysesthesia, Limb myoclonus, Gait ataxia, Acropares... ORPHA:356
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, Dy... ORPHA:251347
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Impaired vibration sensation at ankles, Lo... OMIM:615491
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements, Dystonia OMIM:617493
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early childhood, Progre... ORPHA:401866
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Distal sensory impairment, Fasciculations, Impaired distal vibration... OMIM:614436
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Developmental And Epileptic Encephalopathy 27
Chorea, Spasticity, Dystonia, Myoclonus OMIM:616139
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Progressive Myoclonic Epilepsy With Dystonia
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Spastic tetraparesis, Myoclonus OMIM:617065
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Perioral Myoclonia With Absences
Chin myoclonus, Falls ORPHA:139426
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus ORPHA:3327
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Chorea, Spasticity, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98759
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Inability to walk, Dystonia, Myoclonus, Choreoathetosis OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Spasticity, Dystonia, Myocl... OMIM:614254
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Craniofacial ... OMIM:617282
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Impaired tandem gait, Ataxia, Gait ataxia OMIM:605021
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus OMIM:274240
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Myoclonus OMIM:615338
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Myoclonus, 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
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Dystonia 9
Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Incoordination, Truncal ataxia, Dysdiadochokinesis, Gait ataxi... OMIM:616204
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm... ORPHA:254881
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Truncal ataxia, Morning myoclonic jerks, Episodic ataxia, Myoclonus OMIM:607682
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, Ataxia, Dysmetria ORPHA:208513
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Fasciculations, Tetraplegia, Gait disturbance, Hand tremor OMIM:604484
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction... OMIM:600224
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Limb tremor, Hypertonia, Myoclonus OMIM:300699
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... ORPHA:401768
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Dystonia, Ataxia, Myoclon... ORPHA:313772
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham... OMIM:221900
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Progressive truncal ataxia, Myoclonus, Limb myoclonus, Chin myoclonus ORPHA:263516
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Hsd10 Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Spastic tetraplegia, Ataxia, Erratic myoclonus, Myoclonus OMIM:619971
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Upper limb postural tremor, Distal sensory impairment, Gait ataxia OMIM:180800
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Unsteady gait, Myoclonus OMIM:610090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Spasticity, Gait disturbance, Rigidity, Ataxia, Myoclonus ORPHA:3197
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Inability to walk OMIM:618374
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Alexander Disease
Babinski sign, Spasticity, Ataxia, Dysmetria, Palatal tremor OMIM:203450
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus OMIM:159950
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Tremor, Ataxia, Myoclonus OMIM:612016
Amyotrophic Lateral Sclerosis 5, Juvenile
Fasciculations, Babinski sign, Spasticity, Abnormal pyramidal sign OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor OMIM:609260
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
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Sandhoff Disease, Juvenile Form
Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, Gait disturbance, A... ORPHA:309162
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus ORPHA:166063
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis... OMIM:603516
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Dystonia, Ataxia, Myoclonus OMIM:620094
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Dystonia, Opisthotonus, Parkinsonis... OMIM:619653
Early-Onset Lafora Body Disease
Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Amyotrophic Lateral Sclerosis 1
Fasciculations, Spasticity, Pseudobulbar paralysis OMIM:105400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus OMIM:618251
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Fasciculati... ORPHA:98755
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxi... OMIM:604391
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Lingual dystonia, Blepharospasm, Limb dystonia, Generalized ... ORPHA:93958
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Continuous Spikes And Waves During Sleep
Clumsiness, Hyperkinetic movements, Speech apraxia, Dystonia ORPHA:725
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Phenylketonuria
Tremor, Ataxia, Lower limb spasticity ORPHA:716
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia ORPHA:33445
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Epilepsy, Progressive Myoclonic, 10
Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia OMIM:616640
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Head titubation, Dystonia, Ataxia, Myoclonus, Dysmetria OMIM:250620
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Exaggerated startle response, Clonus OMIM:618201
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Myoclonus OMIM:612899
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Mepan Syndrome
Axial dystonia, Chorea, Spasticity, Craniofacial dystonia, Gait disturbance, Limb dystonia, Dysto... ORPHA:508093
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Spasticity, Dystonia, Myoclonus, C... ORPHA:561854
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Somatic sensory dysfun... ORPHA:90117
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Spinocerebellar Ataxia Type 18