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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
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia 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, Impaired tactile sensation, Gait disturbance, Motor deterioration, ... ORPHA:98765
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hearing impairment, Gait ataxia, Tr... ORPHA:217012
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Progressive Myoclonic 7
Mental deterioration, EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus... OMIM:616187
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... ORPHA:85292
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Cognitive impairment, Truncal ataxia ORPHA:363432
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia OMIM:614706
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Demen... ORPHA:308
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria... OMIM:617145
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia... OMIM:604326
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M... OMIM:616230
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm... ORPHA:101007
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impairment, Ataxi... ORPHA:401901
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... OMIM:619742
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dementia, Dystonia, Chor... OMIM:125370
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tre... OMIM:611302
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Cerebellar atrophy, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality ... OMIM:615362
Spinocerebellar Ataxia 50
Froment sign, Memory impairment, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atroph... OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Abnormal cerebellum morphology, Po... OMIM:608984
Autosomal Spastic Paraplegia Type 72
Memory impairment, Postural tremor, Rigidity, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Cerebellar dentate nucleus calcification, Memory impairment, Chorea, Limb d... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambu... OMIM:256731
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ce... OMIM:617225
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Cognitive impairment, Aplasia/Hypoplasia of the cerebellum, Ataxia ORPHA:1178
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Spinocerebellar Ataxia 14
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Attention de... OMIM:605361
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Mental deterioration, Chorea, Dysmetria, Tremor, Abnormality of extrap... OMIM:164500
Adult Krabbe Disease
Mental deterioration, Spasticity, Broad-based gait, Tetraparesis, Impaired tactile sensation, Ata... ORPHA:206448
Spinocerebellar Ataxia Type 27
Memory impairment, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Ga... ORPHA:98764
Dystonia 22, Juvenile-Onset
Mental deterioration, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tre... OMIM:620453
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Short attention span, Tremor, Dysmetria, Impaired tandem gait, Low... OMIM:619028
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Hemiplegia/hemiparesis, Spastic ataxia, Gait disturbance, Aplasia/Hypoplasia of th... ORPHA:2572
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss o... ORPHA:206443
Spinocerebellar Ataxia 48
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... OMIM:618093
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Dementia, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetri... ORPHA:79263
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cogn... OMIM:607346
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Corticobasal Syndrome
Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb myoclonus, Progressiv... ORPHA:454887
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ... OMIM:614018
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, Parkinso... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dy... ORPHA:101109
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Gait ataxia, Dysme... OMIM:611390
Mohr-Tranebjaerg Syndrome
Mental deterioration, Prelingual sensorineural hearing impairment, Sensorineural hearing impairme... ORPHA:52368
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Gait ata... OMIM:224050
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parki... ORPHA:98756
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Cognitive impairment, Ataxia ORPHA:2246
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... ORPHA:1170
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, Tremor, Gait dis... ORPHA:101075
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Heari... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... OMIM:617810
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Hand tremor, Dementia, Postural tremor, Chorea, Parkinsonism, Cognitive impair... OMIM:615483
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Dementia, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave... OMIM:254800
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax... ORPHA:599373
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Cerebellar dentate nucleus calcification, Memory impairment, Chorea, Dysmet... OMIM:618317
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, EEG abnormality, Ataxia, Bradykinesia OMIM:617836
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Mental deterioration, Decreased motor nerve conduction velocity, Heari... OMIM:609260
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... OMIM:248900
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait... OMIM:607136
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab... ORPHA:1175
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait di... ORPHA:101078
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculom... ORPHA:453521
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Involuntary movements, Spasticity, Cerebellar atrophy, Chore... ORPHA:98759
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... OMIM:300423
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Hearing impairment, Difficulty walking, Impaired vibration sensation in the... ORPHA:137898
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:208920
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Loss of Purkinj... ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor... OMIM:125250
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, G... OMIM:210000
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Impaired vibration sensation in the lower limbs, Postural trem... OMIM:270800
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity d... OMIM:619191
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... ORPHA:352675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Null Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased n... ORPHA:280234
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Frequent falls, Dysdiad... OMIM:617691
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Abnor... ORPHA:98
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... ORPHA:397946
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Pro... ORPHA:139485
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Limb... OMIM:605259
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Hearing i... OMIM:300623
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyra... ORPHA:542310
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at... OMIM:616719
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Cerebellar atrophy, Difficu... OMIM:302800
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Hearing impairment, Incoordination, Limb... OMIM:615157
Developmental And Epileptic Encephalopathy 56
Broad-based gait, EEG with polyspike wave complexes, Action tremor, Attention deficit hyperactivi... OMIM:617665
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at... ORPHA:101
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Dementia, Postural tremor, Gait ataxia, Cogw... OMIM:600116
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Babinski sign, Apraxia, Ataxia, Dementia, Dystonia OMIM:615889
Phenylketonuria
Short attention span, Tremor, Lower limb spasticity, EEG abnormality, Ataxia, Dementia ORPHA:716
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... OMIM:165300
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Caribbean Parkinsonism
Autonomic bladder dysfunction, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystoni... ORPHA:97355
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at... ORPHA:1947
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism,... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, T... ORPHA:99014
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia ORPHA:1766
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si... OMIM:618088
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Joubert Syndrome 24
Spasticity, Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia, Pachygyria OMIM:616654
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal ... ORPHA:33445
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... ORPHA:101085
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co... OMIM:618587
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Cerebellar atrophy, Hearing impairment, Difficulty walking, Head tremor, Babins... ORPHA:320391
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrop... OMIM:607250
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Head ... ORPHA:352641
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress... ORPHA:101112
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty... ORPHA:2590
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Severe sens... OMIM:604213
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Cerebellar atrophy, Akinesia, Tremor, Rigidity, Dyston... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata... ORPHA:352403
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Ataxia With Vitamin E Deficiency
Short term memory impairment, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired prop... OMIM:277460
Spinocerebellar Ataxia 21
Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rig... OMIM:607454
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Progressive neurologic deterioration, Dystonia, Choreoathetosis OMIM:261630
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor... ORPHA:529665
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Cerebellar verm... OMIM:614877
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, R... OMIM:137440
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... OMIM:618049
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Tremor, Ataxia OMIM:617831
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Hearing impairment, Head tremor, Gait ataxia, Dy... ORPHA:98771
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Atax... OMIM:614867
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... ORPHA:93952
Ataxia With Vitamin E Deficiency
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait di... ORPHA:96
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Tetraparesis... OMIM:615491
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with fav... ORPHA:240085
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... ORPHA:330050
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
4H Leukodystrophy
Optic atrophy, Mental deterioration, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrap... ORPHA:289494
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Developmental And Epileptic Encephalopathy 32
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus, Tremor, Ataxia OMIM:616366
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG with occipital epileptiform dischar... ORPHA:254881
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ... OMIM:620208
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Hearing impairment, Myoclonus, Short attention span, Tremor, ... ORPHA:391417
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dyst... OMIM:612438
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Dementia, Extrapyramidal muscular rigidity, Speech ap... ORPHA:99750
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Optic atrophy, Mental deterioration, Hearing impairment, Ge... OMIM:312080
Huntington Disease-Like 2
Memory impairment, Bradykinesia, Chorea, Action tremor, Rigidity, Dementia, Dystonia, Subcortical... OMIM:606438
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto... OMIM:617013
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Decreased motor nerve conduct... OMIM:270550
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Hearing impairment, Paresthesia, Cogwheel rigi... ORPHA:254886
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait imbalance, Gait ataxia, In... ORPHA:98761
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... OMIM:183086
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Loss of ambula... OMIM:607694
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Ataxia OMIM:613909
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di... OMIM:612674
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgi... OMIM:620546
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Ataxia OMIM:618951
Familial Paroxysmal Ataxia
Cerebellar vermis atrophy, Hemiplegia, Tinnitus, Torticollis, Ataxia, Dystonia ORPHA:97
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Dementia, Akinesia, Myoclonus, Distal sensory impairment, Rigidit... OMIM:606693
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, ... OMIM:616505
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Generalized dystonia, Tremor... OMIM:614298
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Sensorineural heari... OMIM:118300
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Lower limb... OMIM:616881
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:605909
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a... OMIM:604391
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy... OMIM:617435
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Myoclonus, Tremor OMIM:615400
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Large fleshy ears, Inability to walk, Tremor, Cerebellar hypoplasia, Attention deficit hyperactiv... OMIM:619556
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia, Abnormal pinna morphology OMIM:300983
Spinocerebellar Ataxia 34
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... OMIM:133190
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Gait ataxia, Spastic hemiparesis... ORPHA:282166
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Tremor, Spastic tetraparesis, Simplified gyral pattern OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Macrotia, Tremor, Waddling gait OMIM:616269
Adult Polyglucosan Body Disease
Spasticity, Distal sensory impairment, Hemiparesis, Abnormality of extrapyramidal motor function,... ORPHA:206583
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Gait imbalance, Abnor... ORPHA:101070
Glut1 Deficiency Syndrome 2
Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Frontal lobe dementia, Sensorineural hearing impairment, Babinski sign, Parkinsonism, Neurogenic ... OMIM:615911
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hearing impairment, Abnormal motor evoked potentials, Hypoplasia of the pons, Difficulty walking,... ORPHA:412057
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Mental deterioration, Difficulty walking, Abnor... ORPHA:442835
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia OMIM:612020
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Confusion, Gait ataxia, Dysmetria, Hemiparesis, ... OMIM:602481
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Progressive cerebellar ataxia ORPHA:276183
Saccharopinuria
Mental deterioration, Gait ataxia, Tremor, Distal sensory impairment, Cognitive impairment, Spast... ORPHA:3124
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Optic ... OMIM:617523
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations ORPHA:65684
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Polymicrogyria, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rig... OMIM:618877
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit... ORPHA:401768
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Autosomal Dominant Spastic Paraplegia Type 9A
Memory impairment, Falls, Dementia, Impaired vibration sensation in the lower limbs, Abnormal cer... ORPHA:447753
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dementia, Facial palsy, Frequent falls OMIM:159950
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Progressive neurol... OMIM:261640
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Babi... ORPHA:504476
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cerebellum, Gait disturbance,... ORPHA:1192
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, ... OMIM:606002
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor... OMIM:618060
Developmental And Epileptic Encephalopathy 42
Tremor, EEG abnormality, Hypertonia, Ataxia, Athetosis OMIM:617106
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, EEG with spike-wave complexes, Tremor, Cognitive impairment, Ataxia, Bradykinesia... ORPHA:36387
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention ... OMIM:614381
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga... ORPHA:227510
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autosomal Dominant Spastic Paraplegia Type 9B
Progressive neurologic deterioration, Focal dystonia, Dementia, Postural tremor, Upper motor neur... ORPHA:447757
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te... OMIM:616267
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Glutathionuria
Gray matter heterotopia, Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Tetraparesis, Sensorineural hearing impa... OMIM:619260
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Interictal EEG abnormality, Periventricular no... ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Tremor, Cerebellar hypoplasia, Ataxia, Bilateral sensorineural hearing impairment,... OMIM:619422
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... ORPHA:95433
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Confusion, Chorea, Gait ataxia, Action tremo... OMIM:607483
Crigler-Najjar Syndrome Type 1
Memory impairment, Hearing impairment, Tremor ORPHA:79234
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Sensorineural h... OMIM:300957
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Progressive extrapyramidal muscular rigidity, Akinesi... ORPHA:240071
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Pill-rolling tremor, Resting tremor... OMIM:612953
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre... ORPHA:64753
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... OMIM:615960
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, EEG with generalized slo... OMIM:300055
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyra... OMIM:615673
Aceruloplasminemia
Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akines... ORPHA:48818
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, Gait at... ORPHA:363400
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hype... OMIM:619092
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Neurogeni... ORPHA:171695
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... OMIM:616840
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607734
Infantile Krabbe Disease
Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t... ORPHA:206436
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, Orthostatic hypotens... OMIM:146500
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Mental deterioration, Tremor... OMIM:615530
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Hearing impairment, Confusion, Paraplegia, Limb ataxia, Positive... OMIM:105210
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia... ORPHA:3240
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Fasciculations, Difficulty walking, Decreased nerve conduct... ORPHA:329478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Fac... OMIM:613155
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Focal EEG discharges with secondary generalizat... ORPHA:3077
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Cognitive impairm... ORPHA:70594
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dyston... OMIM:617710
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Tay-Sachs Disease
Hearing impairment, Incoordination, Poor fine motor coordination, Memory impairment, Inability to... ORPHA:845
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Memory impairment, Periventricular nodular heterotopia, Tremor, Hem... OMIM:619737
Mohr-Tranebjaerg Syndrome
Mental deterioration, Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingu... OMIM:304700
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Progressive neurologic deterioration, ... OMIM:233910
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ... OMIM:168600
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech OMIM:206700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cy... OMIM:613153
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, EEG with focal spike waves, EEG ... ORPHA:1942
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Resting tremor, Memory impai... ORPHA:314404
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordinati... ORPHA:544254
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Abnormal cerebellum morphology, Tremor OMIM:190310
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar h... OMIM:615181
Leukoencephalopathy With Ataxia
Optic neuropathy, Limb ataxia, Gait ataxia, Action tremor OMIM:615651
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Jaberi-Elahi Syndrome
Low-set ears, Optic atrophy, Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait... OMIM:617988
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Myoclonus, Tremor, Abnormal au... ORPHA:97229
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Sensorineural hearing impairment, Babinski sig... OMIM:618527
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Tremor, Ataxia OMIM:619473
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Macrotia, Upper limb spas... ORPHA:457240
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Spasticity, Inability to walk, Tremor, EEG abnormality OMIM:618718
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Fasciculations, Dy... OMIM:620327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperk... OMIM:615356
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Young-Onset Parkinson Disease
Spasticity, Frontal lobe dementia, Gait imbalance, Short attention span, Tremor, Rigidity, Dyston... ORPHA:2828
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, EEG with burst suppression, Tremor, Hypsarrhythmia, Spastic tetraplegia, Chor... OMIM:612164
Classic Phenylketonuria
Mental deterioration, Memory impairment, Hemiplegia, Paraplegia, Tremor, Attention deficit hypera... ORPHA:79254
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor,... OMIM:254900
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Cognitive impairment, Ataxia, Dementia, Spastic tetraplegi... OMIM:616640
Myopathy, Mitochondrial, And Ataxia
Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory... OMIM:617675
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Falls, Tremor, Rigidity, Dystonia, Cognitive impairment, Unstea... ORPHA:683
Ataxia-Telangiectasia
Spasticity, Tremor, Gait disturbance, Cognitive impairment, Ataxia ORPHA:100
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Frontotemporal ... OMIM:168605
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... ORPHA:765
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Perry Syndrome
Dementia, Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Early-Onset Lafora Body Disease
Mental deterioration, Confusion, Myoclonus, Ataxia, Spastic tetraparesis ORPHA:324290
Sneddon Syndrome
Mental deterioration, Hemiplegia, Tremor, Impaired distal tactile sensation, Facial palsy OMIM:182410
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... OMIM:218000
Sialidosis Type 1
Decreased nerve conduction velocity, Myoclonus, Tremor, Sensorineural hearing impairment, Gait di... ORPHA:812
Joubert Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Polymicrogyria, Tremor, Abnormality of neuronal migra... ORPHA:475
Bilateral Perisylvian Polymicrogyria
EEG with frontal focal spikes, Spasticity, Oromotor apraxia, Cerebellar vermis hypoplasia, Hearin... ORPHA:98889
Metachromatic Leukodystrophy
Tip-toe gait, Hearing impairment, Incoordination, Decreased nerve conduction velocity, Tremor, Dy... ORPHA:512
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity, Short-s... OMIM:609136
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula... ORPHA:466768
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Hearing impairment, Difficulty walking, Dysmetria, Tremor, Cerebella... ORPHA:502423
Xeroderma Pigmentosum, Complementation Group F
Dementia, Hearing impairment, Tremor, Ataxia OMIM:278760
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Low-set, posteriorly rotated ears, Tremor, Aganglio... ORPHA:220497
East Syndrome
Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Sensorineural hearing i... ORPHA:199343
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Myoclonus, Tremor, Sensorineural hearing impairment, Loss of ambulation, Righ... OMIM:607426
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i... ORPHA:99956
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Gait imbalance, Myoclonus, Short attentio... ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Mental deterioration, Akinesia, Tremor, Rigidity, Abnor... OMIM:234200
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Difficulty walking, Dilated fourt... ORPHA:572798
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... ORPHA:25
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Decreased nerve conductio... OMIM:216400
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Tremor, Sensorineural hearing impairment, Neurogenic bladder, ... OMIM:222300
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Low-set, posteriorly rotated ears, Tremor, Aganglio... ORPHA:220493
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529799
Niemann-Pick Disease Type C
Mental deterioration, Hearing impairment, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal... ORPHA:646
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529808
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Hearing impairment, Ataxia, Dementia, Intention tremor OMIM:117300
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, EEG with burst suppression, Cogwh... ORPHA:79139
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Tremor, Ataxia ORPHA:79095
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Hypoplasia of the pons, EEG with burst suppression, Dilated fourth ... OMIM:615574
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, ... OMIM:616271
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Pro... OMIM:614947
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia OMIM:617186
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Hearing impairment, G... OMIM:300966
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Episodic ataxia, EEG with burst suppression, Uni- and bilateral m... ORPHA:1934
Hyperlysinemia
Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Tip-toe gait, EEG with... ORPHA:2203
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Retrocollis, Limb dyst... OMIM:601104
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Hearin... ORPHA:297
Joubert Syndrome With Hepatic Defect
Low-set ears, Cerebellar vermis hypoplasia, Optic disc coloboma, Tremor, Abnormality of neuronal ... ORPHA:1454
Serotonin Syndrome
Mental deterioration, Confusion, Abnormality of the autonomic nervous system, Myoclonus, Tremor, ... ORPHA:43116
Trisomy 10P
Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with burst suppre... ORPHA:171929
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Hearing impairment, Gait ataxia, Cogwheel rigidity, Tremor, R... ORPHA:254892
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal mu... ORPHA:67036
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oculomotor ... ORPHA:2131
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Ataxia-Telangiectasia
Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slurred speech, Dysdiad... OMIM:208900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Spasticity, Mental deterioration, Hemiplegia, Tremor, Abnormality of extrapyramida... OMIM:612199
Chédiak-Higashi Syndrome
Spastic paraplegia, Cerebellar atrophy, Somatic sensory dysfunction, Inability to walk, Decreased... ORPHA:167
Dpagt1-Cdg
Optic atrophy, Hearing impairment, Inability to walk, EEG with generalized slow activity, Akinesi... ORPHA:86309
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia, Dandy-Walker malformation ORPHA:401973
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578

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

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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
Car8em1(IMPC)Bay Exon Deletion Mice
Car8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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