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Gene: Car8 MGI:88253

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
carbonic anhydrase 8
Synonyms:
wdl,  CA-RP VIII,  Carp,  Cals1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Car8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Car8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Gait disturbance ORPHA:1766

The table below shows human diseases predicted to be associated to Car8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair... ORPHA:217012
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Ment... OMIM:616187
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement... ORPHA:79262
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Cognitive impairment, Cerebellar vermis atrophy ORPHA:363432
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, EEG with generalized polyspikes, Optic atrophy, Mental deterioration OMIM:614706
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... ORPHA:308
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ... OMIM:617145
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Progressive neurologic deterioration, EEG with photoparoxysmal response, Limb... OMIM:616230
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonu... OMIM:125370
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Froment sign, Myoclonus,... OMIM:620158
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality ... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, EEG abnormality, Myoclonus, Loss of ambulation OMIM:600143
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Autosomal Spastic Paraplegia Type 72
Postural tremor, Rigidity, Memory impairment, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nerv... OMIM:256731
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Cognitive impairment ORPHA:1178
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity ORPHA:309169
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... OMIM:605361
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... OMIM:610185
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai... OMIM:619028
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... ORPHA:2572
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, ... ORPHA:79263
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Adult Krabbe Disease
Progressive neurologic deterioration, Hoffmann sign, Abnormal medulla oblongata morphology, Ataxi... ORPHA:206448
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment, EEG with sp... OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Dementia, Abnormality of extrapyramidal mot... OMIM:162350
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Cognit... ORPHA:101109
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Cognitive... OMIM:611390
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... OMIM:224050
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Dementia... OMIM:619806
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet... ORPHA:98756
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... ORPHA:101075
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Progressiv... ORPHA:1170
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Hearing impairment OMIM:620270
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... OMIM:617810
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he... ORPHA:52368
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Ataxia, Cerebellar hypoplasia, Cognitive impairment ORPHA:2246
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Dementia, Myoclonus, Interictal epileptiform activity,... OMIM:254800
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul... ORPHA:599373
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... OMIM:609260
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Cerebellar calcifications, Parkinsonism, Chorea, Hand tremor, Athetosis, Dementi... OMIM:615483
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, EEG abnormality, Mental deterioration OMIM:610951
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu... ORPHA:208513
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... OMIM:248900
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance, H... ORPHA:101078
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea... OMIM:607136
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... ORPHA:521406
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... OMIM:607565
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... ORPHA:453521
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... ORPHA:98759
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... OMIM:617284
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... OMIM:300423
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibrati... OMIM:208920
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph... OMIM:270800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Optic atrophy, Dysmetria, Gait ... OMIM:210000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Slu... ORPHA:98755
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Attention deficit hyperactivity disorder, Difficulty walking, Menta... OMIM:619191
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent fall... OMIM:617691
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Cogn... ORPHA:314632
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi... OMIM:302800
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tre... OMIM:300623
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... ORPHA:280234
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Dementia, Gait disturbance, Park... OMIM:616710
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Oromandibular dystonia, Impaired pr... ORPHA:101
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Dementia, Dystonia, Spasticity, Apraxia OMIM:615889
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Trunc... ORPHA:276198
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dement... ORPHA:329284
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... ORPHA:206594
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Gait disturbance ORPHA:1766
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... OMIM:618088
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ... ORPHA:33445
Joubert Syndrome 24
Ataxia, Pachygyria, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Polymicrogyria OMIM:616654
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal ... ORPHA:280219
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Hearing impairment, Babinski... ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Atax... OMIM:607250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar hypoplasia, Severe sensorineural hearing impairment, Polymicr... OMIM:604213
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, A... OMIM:300894
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Impaired vibratio... OMIM:159550
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ... OMIM:614877
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen... OMIM:137440
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor,... ORPHA:98771
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, O... OMIM:614867
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairment, Parkins... ORPHA:240085
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki... ORPHA:330050
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, C... OMIM:614487
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi... OMIM:620208
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive ... ORPHA:254881
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hy... ORPHA:529665
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor... ORPHA:2590
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... ORPHA:240094
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,... ORPHA:391417
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... OMIM:612438
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Cognitive impairment OMIM:613909
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Bradykinesia, Dementia, Dystonia, Memory impairment, Acti... OMIM:606438
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearin... OMIM:312080
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... OMIM:617013
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Lo... OMIM:270550
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Hearing impairment, Optic atrophy, Cogwheel rigidity, B... ORPHA:254886
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... OMIM:607694
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... OMIM:617435
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Low-set ears OMIM:618951
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia, Cognitive impairment ORPHA:276183
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Tinnitus, Cerebellar vermis atrophy ORPHA:97
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:616505
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Dystonia OMIM:605909
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Cerebellar hypoplasia, Attentio... OMIM:619556
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Simplified gyral pattern OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Macrotia, Waddling gait OMIM:616269
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... OMIM:618598
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Abnormal pyramidal sign, Distal sensory impairment, Hemiparesis, Deme... ORPHA:206583
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder, Ataxia, Parkinsonism, Frontotemporal dementia, Sensorineural hearing impairme... OMIM:615911
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de... ORPHA:3124
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata... OMIM:602481
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Dementia, Tongue fasciculations, Myoclonus, Difficulty walking, Frequent falls OMIM:159950
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Abnormal... ORPHA:447753
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... OMIM:128100
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br... OMIM:261640
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Babinski sign, Optic atrophy, Dysmetria, ... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vi... OMIM:606002
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Sensorineural hearing impairment, Hypertonia, Gait ... ORPHA:1192
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, C... OMIM:616267
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:614381
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys... ORPHA:447757
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, T... OMIM:607483
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... ORPHA:401768
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal motor evoked potentials,... ORPHA:909
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Clumsiness, B... ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Bilateral sensorineural he... OMIM:619422
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Hearing impairment ORPHA:79234
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, ... OMIM:233910
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn... ORPHA:240071
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Sensorineural hearing impai... OMIM:300957
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Optic atrophy, Clumsiness, Choreoathe... OMIM:615673
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears ORPHA:477673
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abnormal pyramida... ORPHA:363400
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... ORPHA:171695
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Abnormal aut... OMIM:616840
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Hypertonia, Myoclonus... OMIM:619092
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607734
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl... OMIM:616531
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C... ORPHA:48818
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramid... OMIM:105210
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal autonomic nervou... OMIM:168600
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,... ORPHA:206436
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Focal EEG discharges with ... ORPHA:3077
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dementia, Cataplexy,... OMIM:604121
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Gait disturbance, Myoclonus, Shuf... OMIM:168601
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... ORPHA:70594
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Dementia, Falls, Cognitive impairme... ORPHA:683
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hyp... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Sensorineural hearing impa... OMIM:619737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Cerebellar hypoplasia, Cerebellar ... OMIM:613155
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... OMIM:311510
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Mental deterioration, Progressive... OMIM:304700
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Clumsiness, ... ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon... OMIM:613153
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti... ORPHA:314404
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn... ORPHA:1942
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... ORPHA:225147
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Progressive hearing impairment, Myoclonus, Abnor... ORPHA:97229
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Tremor, Anteverted ears, Poor coordination, Gait disturbance, Abnormality of pain sensati... ORPHA:544254
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Poly... OMIM:615181
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... OMIM:617988
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Leukoencephalopathy With Ataxia
Optic neuropathy, Action tremor, Limb ataxia, Gait ataxia OMIM:615651
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ... ORPHA:329478
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Sensorineural hearing impairment, Babinski... OMIM:618527
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment, Ataxia OMIM:619473
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, EEG abnormality, Low-set ears, Spasticity OMIM:618718
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia, Cerebellar dys... ORPHA:457240
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Tremor, Cerebellar hypoplas... OMIM:620327
Developmental And Epileptic Encephalopathy 4
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... OMIM:612164
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Frontal lobe dementia, Bradykinesia, Dementia, Gait imbal... ORPHA:2828
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Bradykinesia, Dystonia, Short ... OMIM:168605
Classic Phenylketonuria
Tremor, Paraplegia, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder, Mental dete... ORPHA:79254
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Dementia, Myoclonus, ... OMIM:616640
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity ORPHA:100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Mental... OMIM:254900
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Myoclonus, Mental deterioration ORPHA:324290
Sneddon Syndrome
Facial palsy, Tremor, Impaired distal tactile sensation, Mental deterioration, Hemiplegia OMIM:182410
Sialidosis Type 1
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Slurred sp... ORPHA:812
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, Lower limb spasticity, EEG with parietal focal spikes, Cerebel... ORPHA:98889
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Abnormality of neuronal migr... ORPHA:475
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Abnormality of per... ORPHA:466768
Xeroderma Pigmentosum, Complementation Group F
Tremor, Dementia, Ataxia, Hearing impairment OMIM:278760
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... ORPHA:502423
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... ORPHA:220497
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait d... ORPHA:90321
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG... ORPHA:98794
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Loss of ambulati... OMIM:607426
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Dementia, Gait disturbance, ... ORPHA:512
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti... ORPHA:25
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... OMIM:607060
Joubert Syndrome 23
Sensorineural hearing impairment, Cerebellar dysplasia OMIM:616490
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... ORPHA:220493
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Dementia, Intention tremor, Spasticity, Hearing impairment OMIM:117300
Wolfram Syndrome 1
Neurogenic bladder, Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy OMIM:222300
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremo... OMIM:216400
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Ataxia, Tremor ORPHA:79095
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Opt... OMIM:615574
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady... OMIM:614947
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis OMIM:617186
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Thickened helices, Tremor, Spastic dipl... OMIM:300966
Hyperlysinemia
Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spa... ORPHA:2203
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Hypsarrhyt... ORPHA:1934
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... ORPHA:297
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Abnormalit... ORPHA:1454
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Serotonin Syndrome
Confusion, Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Mental deterioration, Delirium, Abnor... ORPHA:43116
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Cogwheel... ORPHA:254892
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Abnormal pinna morphology... OMIM:133540
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Alternating Hemiplegia Of Childhood
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... ORPHA:2131
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... ORPHA:397744
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor funct... OMIM:612199
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Chédiak-Higashi Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Inability to walk,... ORPHA:167
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Dpagt1-Cdg
EEG with generalized slow activity, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Ina... ORPHA:86309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Pachygyria, Optic atrophy, EEG abnormality, Cerebellar hypoplasia, Myoclonu... OMIM:253280
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Car8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Car8.

No publications found that use IMPC mice or data for Car8.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Car8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Car8tm166(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Car8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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