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
iris synechia Kcnv1em1(IMPC)J HOM Early adult 4.37×10-07
abnormal vocalization Kcnv1em1(IMPC)J HOM Early adult 4.86×10-05

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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

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
Ataxia, Fasciculations OMIM:108700
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Glutathionuria
Tremor OMIM:231950
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spastic Ataxia With Congenital Miosis
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Geniospasm 1
Chin myoclonus OMIM:190100
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia OMIM:617769
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity OMIM:616981
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Epilepsy, Progressive Myoclonic, 11
Ataxia, Myoclonus, Rigidity, Intention tremor OMIM:618876
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus OMIM:220300
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:162350
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Developmental And Epileptic Encephalopathy 40
Myoclonus, Spasticity, Choreoathetosis OMIM:617065
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus ORPHA:36899
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Babinski sign, Dysdiadochokinesis, Impaired vibration sensation at ankles ORPHA:101007
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... OMIM:610245
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor OMIM:300660
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy OMIM:617829
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Glut1 Deficiency Syndrome 1
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Paroxysmal lethargy, Myoclonus, H... OMIM:606777
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia OMIM:615957
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... ORPHA:284332
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia OMIM:617133
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Steppage gait, Impaired temperature sensation, Impaired pain sensation, Limb fasciculations ORPHA:99940
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus OMIM:600143
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... ORPHA:254343
Urocanic Aciduria
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia ORPHA:210128
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia 34
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... OMIM:133190
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia OMIM:604432
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Epilepsy, Progressive Myoclonic, 8
Myoclonus OMIM:616230
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Progressive spastic paraplegia, ... ORPHA:401820
Valinemia
Hyperkinetic movements OMIM:277100
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia OMIM:617584
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Spastic tetraplegia, Inability to walk, Hyperkinetic movements OMIM:618285
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Gait disturbance, Babinski sign, Limb fasciculations, Spastic gait, Tongue fasciculations, Spasti... ORPHA:329475
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dystonia 24
Torticollis, Oromandibular dystonia, Head tremor, Blepharospasm OMIM:615034
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, Spasticity, Oculogyric cr... OMIM:614254
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity ORPHA:401835
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
Spinocerebellar Ataxia Type 28
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Combined Saposin Deficiency
Babinski sign, Myoclonus, Hyperkinetic movements, Fasciculations OMIM:611721
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... ORPHA:13
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... ORPHA:276198
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604187
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spinal Muscular Atrophy, Type Iii
Hand tremor, Tongue fasciculations, Limb fasciculations OMIM:253400
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Spasticity OMIM:545000
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia OMIM:616540
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Torticollis, Oromandibular dystonia, Myoclonus, Retrocollis, Laryngea... OMIM:617284
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... OMIM:617964
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations OMIM:602099
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... OMIM:610357
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebellar ataxia,... ORPHA:98756
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Broad-based gait, Parkinsonism, Progressi... ORPHA:306511
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romberg sign, Intention ... OMIM:607136
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia OMIM:606183
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... OMIM:617145
Chorea, Benign Familial
Chorea OMIM:215450
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Gait ataxia, Positive Romberg sign OMIM:617770
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Gait disturbance, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... ORPHA:248111
Dystonia 7, Torsion
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... OMIM:602124
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Fasciculations OMIM:615575
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Progressive spastic paraplegia, Spastic dysarthria, Lower limb spasticity ORPHA:401830
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations OMIM:271150
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Truncal ataxia, Palatal myoclonus OMIM:113610
Isaac Syndrome
Distal sensory impairment, Fasciculations ORPHA:84142
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Myoclonus, Hypertonia OMIM:617290
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis OMIM:123400
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sen... OMIM:607565
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101078
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations OMIM:614808
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Hyperactivity, Ataxia, Spasticity OMIM:612716
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Lower limb spasticity, Impaired vibratory sensa... ORPHA:100988
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Distal sensory impairment,... OMIM:617225
Familial Infantile Bilateral Striatal Necrosis
Gait disturbance, Dystonia, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking OMIM:159950
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Morning myoclonic jerks OMIM:607682
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... OMIM:617633
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Blepharospasm, Laryngeal dystonia OMIM:616398
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Distal sensory impairment, Fasciculations OMIM:606595
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Babinski sign, Myoclonus, Ataxia, Spastic diplegia OMIM:619065
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Diffic... ORPHA:98764
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Spasticity, Waddling gait, Tip-toe gait, Fasciculations OMIM:615290
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Progressive cerebellar atax... ORPHA:284289
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Distal sensory impairment, Hypertonia, Abnormal pyramidal sign, Difficulty walking OMIM:616688
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, S... OMIM:614487
Spastic Paraplegia 48, Autosomal Recessive
Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Broad-based gait, Spastic paraplegia, Par... OMIM:613647
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia Type 26
Babinski sign, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia ORPHA:101112
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Spinocerebellar Ataxia 48
Dystonia, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:139485
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Slurred spee... ORPHA:352403
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Dystonia, Athetosis, Chorea, Hyperkinetic movements, Spasticity OMIM:617493
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxia, Ankle clonus... OMIM:615491
Roussy-Lévy Syndrome
Clumsiness, Postural tremor, Babinski sign, Frequent falls, Impaired pain sensation, Impaired vib... ORPHA:3115
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia OMIM:618412
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria OMIM:600223
Spinal Muscular Atrophy, Type Ii
Hand tremor, Tongue fasciculations OMIM:253550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Fasciculations, Tetraplegia, Distal sensory impairment OMIM:604484
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Babinski sign, Myoclonus, Spastic dysarthria, Loss of ability to walk in ... ORPHA:401866
Spinocerebellar Ataxia 44
Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Spinocerebellar Ataxia 5
Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Incoordination, Up... OMIM:600224
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Tetraplegia, Fasciculations OMIM:300816
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Ataxia, Oculomotor apraxia OMIM:616267
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk OMIM:615159
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Steppage gait, Fasciculations, Distal sensory impairment, Tip-toe gait, Impaired distal vibration... OMIM:614436
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Dyses... ORPHA:356
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cerebellar ataxia, ... ORPHA:504476
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Developmental And Epileptic Encephalopathy 16
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis OMIM:615338
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Spinocerebellar Ataxia 36
Babinski sign, Fasciculations, Ataxia, Hypertonia, Incoordination, Truncal ataxia, Tongue fascicu... OMIM:614153
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Spastic gait, Spastic ataxia, Tremor, Atax... OMIM:616795
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine m... ORPHA:79263
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Ataxia-Telangiectasia-Like Disorder
Dystonia, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Oculomotor apraxia, Ata... ORPHA:251347
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Myoclonus OMIM:274240
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Ataxia-Oculomotor Apraxia 3
Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Hereditary Continuous Muscle Fiber Activity
Ataxia, Spastic gait, Slurred speech ORPHA:972
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dystonia, Craniofacial... ORPHA:420492
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia 27
Postural tremor, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Limb ataxia, ... OMIM:609307
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... ORPHA:71517
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Hemiplegia, Abnor... ORPHA:352596
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Frequent falls, Intention tremor, Poor fine motor coordination, Broad-based gait, Gait ataxia, Di... ORPHA:512260
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign OMIM:601042
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Perioral Myoclonia With Absences
Falls, Chin myoclonus ORPHA:139426
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Ataxia, Hypertonia, Dysdiadochokinesis OMIM:618356
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Optic Atrophy 11
Dysmetria, Hyperactivity, Hyperkinetic movements, Ataxia OMIM:617302
Spinocerebellar Ataxia 26
Limb ataxia, Gait ataxia, Incoordination, Truncal ataxia OMIM:609306
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Lethargy OMIM:618225
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Incoordination, Truncal... OMIM:616204
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Upper limb postural tremor, Gait ataxia, Action tremor OMIM:180800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Stereotypy OMIM:600795
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia Type 29
Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Gait ataxia ORPHA:208513
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... ORPHA:99
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Parkinsonism, Rigidity, Writer's cramp, Tortic... ORPHA:98759
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxia, Dysdiadochokinesi... ORPHA:313772
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Spinocerebellar Ataxia Type 1
Impaired proprioception, Gait disturbance, Postural tremor, Dystonia, Gait imbalance, Dysmetria, ... ORPHA:98755
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Resting tremor, Limb hypertonia, Chorea OMIM:606703
Early-Onset Lafora Body Disease
Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Developmental And Epileptic Encephalopathy 24
Ataxia OMIM:615871
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Somatic sensory dysfun... ORPHA:90117
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Hereditary Hyperekplexia
Gait disturbance, Rigidity, Myoclonus, Fasciculations, Ataxia, Hypertonia, Spasticity ORPHA:3197
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Dystonia, Myoclonus, Ataxia OMIM:250620
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking, Somatic sen... ORPHA:101077
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Joubert Syndrome 27
Oculomotor apraxia, Ataxia OMIM:617120
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Hyperkinetic movements, Ster... ORPHA:561854
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Fasciculations OMIM:607596
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Slurred spe... ORPHA:98772
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Ataxia, Re... ORPHA:401768
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Fasciculations OMIM:105400
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements OMIM:618374
Progressive Myoclonic Epilepsy Type 3
Limb myoclonus, Progressive truncal ataxia, Myoclonus, Progressive cerebellar ataxia, Chin myoclonus ORPHA:263516
Alzheimer Disease 3
Dystonia, Gait disturbance, Babinski sign, Myoclonus, Abnormality of extrapyramidal motor functio... OMIM:607822
Congenital Disorder Of Glycosylation, Type In
Ataxia, Myoclonus, Spasticity OMIM:612015
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity OMIM:609260
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus ORPHA:166063
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Inability to walk, Generalized dys... OMIM:619653
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia ORPHA:1170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Gait disturbance, Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Distal sens... OMIM:302800
Epilepsy, Progressive Myoclonic, 10
Myoclonus, Spastic tetraplegia, Spastic ataxia, Ataxia, Progressive cerebellar ataxia, Spasticity OMIM:616640
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus OMIM:618251
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia OMIM:618049
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Hypertonia, Myoclonus, Spasticity OMIM:618426
Machado-Joseph Disease
Dystonia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Fa... OMIM:109150
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Inability to walk, Apraxia, Spasticity, Gait ataxia OMIM:617810
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal p... ORPHA:96
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... ORPHA:93952
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Spasticity OMIM:225753
Cystathioninuria
Tremor ORPHA:212
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... ORPHA:137898
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Gait disturbance, Shuffling gait, Tremor, Abnormality of coordination, Hypertonia, Dysd... ORPHA:352649
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Myoclonus OMIM:300699
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Truncal ataxia OMIM:614229
Developmental And Epileptic Encephalopathy 1
Dystonia, Choreoathetosis, Spastic tetraparesis, Hypertonia, Abnormal pyramidal sign, Erratic myo... OMIM:308350
Spastic Paraplegia 9B, Autosomal Recessive
Gait disturbance, Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... OMIM:616586
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202