Gene: Trim2 MGI:1933163

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Gene Summary

Name:
tripartite motif-containing 2
Synonyms:
neural activity-related ring finger protein,  narf

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Trim2 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 Trim2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Broad-based gait OMIM:615490

The table below shows human diseases predicted to be associated to Trim2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic at... OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy, Babinski sig... OMIM:614322
Tapetoretinal Degeneration With Ataxia
Rod-cone dystrophy, Ataxia OMIM:272600
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Retinal dystrophy, Seizure, Cerebellar atrophy, Optic atrophy, Generalized myoclonic seizure OMIM:614706
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hypertonia, Ataxia, Seizure, Cerebral cortical atrophy, Olivopontocerebel... ORPHA:2732
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebral atrophy, Myoclonic status epilepticus, Myoclonic seizure, Cerebellar atr... OMIM:611726
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Abnorm... OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 9
Cerebral atrophy, Ataxia, Seizure, Progressive inability to walk, Optic atrophy, Rigidity, Rod-co... OMIM:609055
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Brain... ORPHA:83472
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Neuroectodermal Melanolysosomal Disease
Tremor, Cerebral cortical hemiatrophy, Hypertonia, Spasticity, Cerebellar hypoplasia, Ataxia, Abn... ORPHA:33445
Spinocerebellar Ataxia 37
Tremor, Ataxia, Cerebellar atrophy, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy, Increa... OMIM:256731
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degen... OMIM:617862
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Diffuse cerebellar... ORPHA:363710
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Retinal degenerati... OMIM:204500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Cerebellar atrophy, Dysmetria, Hyperactivit... OMIM:618090
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Cerebellar atrophy, Giant somatosensory evoked pot... OMIM:618876
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... OMIM:612319
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Cerebellar atrophy OMIM:141500
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, In... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Diaminopentanuria
Seizure, Neurodegeneration, Ataxia, Spasticity OMIM:222350
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Gait disturbance, Ataxia, Rod-cone ... ORPHA:1178
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Leukodystrophy, Hypomyelinating, 11
Tremor, Cerebellar atrophy, Ataxia, Spasticity OMIM:616494
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Cerebellar hypoplasia, Ataxia OMIM:615771
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Intention t... ORPHA:94122
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Action tremor, Bilateral tonic-clonic seizure, Brady... OMIM:300423
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia, Chorioretinal dystrophy OMIM:212840
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Ataxia, Retinal dystrophy, Status epilepticus OMIM:617020
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Cerebral atro... OMIM:615157
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Seizure, Cerebellar atrop... OMIM:617810
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Cerebella... ORPHA:284332
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Ataxia, Status epilepticus, Cerebellar atrophy, Increased neur... OMIM:610127
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Ataxia, Seizure, Corticospinal tract atrophy, Retinopathy, R... OMIM:551500
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myocl... OMIM:615924
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria OMIM:607458
Neurodegeneration With Brain Iron Accumulation
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Opt... ORPHA:385
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Dystonia, Ataxia, Seizure, Cerebellar atrophy, Optic atrophy, Rigidity, ... OMIM:612438
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Diffuse cerebral atrophy OMIM:300660
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue f... OMIM:618170
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Ataxia, Seizure, Unsteady gait, Cerebellar atrophy OMIM:615705
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Cerebral cortical atrophy, ... ORPHA:401820
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, ... OMIM:159950
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Imp... OMIM:619028
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Cerebellar hypoplasia, Bilateral ton... ORPHA:529665
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus OMIM:615127
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia, Seizure, Myoclonus, Involuntary movements OMIM:611092
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Seizure, Cerebellar atrophy, Spastic tetraplegia, Optic atrophy, Spasticity OMIM:617207
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Chor... OMIM:125370
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... ORPHA:521406
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Gait ataxia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dy... ORPHA:216873
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... OMIM:618425
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonus, Bradykines... OMIM:617435
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Seizure, Lower limb... OMIM:600363
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Retinal dystrophy, Unsteady gait, Cerebellar atrophy, Dysmetr... OMIM:614867
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Myoclonic absence seizure, Arnold-Chiari type I malformation, Ataxia, Bilateral... OMIM:617836
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy... OMIM:618093
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Retinal dystrophy, Abnormal upper motor neuron morp... OMIM:215470
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Seizure, Unsteady gait, Cer... OMIM:256600
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Difficulty walking, P... ORPHA:512260
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Ha... ORPHA:401830
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Seizure, Torticollis, Cerebella... ORPHA:71517
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atr... ORPHA:139485
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Ce... OMIM:607208
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Cerebral atrophy, N... OMIM:610217
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Abnorm... ORPHA:98
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Enhancement of the... OMIM:601068
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Giant somatosens... OMIM:613608
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Seizure, Cerebellar atrop... OMIM:224050
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Chorea, Spastic ataxia, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Seizure, Unsteady gait, Optic atrophy OMIM:614947
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Seizure, Cerebellar atrophy, Dysmetria, Optic disc pallor, Spasticity OMIM:617954
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Shuffli... OMIM:615528
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Cerebellar atrophy... OMIM:610357
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... OMIM:615643
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Spastic tetraparesis, Ataxia, Seizure, Intention tremor OMIM:266130
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral a... ORPHA:391417
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Neurodegenerati... OMIM:614298
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Cere... ORPHA:248111
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Bab... OMIM:612674
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Difficulty walkin... OMIM:302800
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetr... OMIM:618088
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... OMIM:602433
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Gai... ORPHA:93952
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Cerebellar cyst, Oculomotor apraxia, Head titubation, Ataxia, Retinal dystrophy,... ORPHA:370022
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Glutathionuria
Tremor OMIM:231950
Combined Oxidative Phosphorylation Defect Type 29
Axonal degeneration, Diffuse cerebellar atrophy, Global brain atrophy, Poor coordination, Neurode... ORPHA:478029
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Gen... OMIM:254900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Global brain atrophy, Pain insensitivity, Ataxia, Seizure, Impaired vibration sens... ORPHA:94124
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Atonic seizure, Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Ce... ORPHA:101070
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Paresthesia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cerebellar ... ORPHA:466794
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Spastic paraplegia, Impaired vibratory sensation, Pigmentary retinopathy,... ORPHA:100996
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Degeneration of anterior horn cells, Tongue fasciculations OMIM:253400
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Abnormal upper motor neuron morphology, Cerebral cortical atro... OMIM:607694
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Poretti-Boltshauser Syndrome
Retinal atrophy, Cerebellar cyst, Cerebellar vermis hypoplasia, Oculomotor apraxia, Cerebellar dy... OMIM:615960
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Gait imbalance, Intention tremor, Status epilept... ORPHA:98761
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Seizure, Cerebral cortical ... ORPHA:644
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... ORPHA:98811
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Impaired proprioception, Limb ataxi... ORPHA:101
Spinal Muscular Atrophy, Type Ii
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:253550
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Abnormal... ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Retinal degeneration, ... ORPHA:442835
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Cerebral atrophy, Ne... ORPHA:309246
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction velocity, Ataxia, Impaired pain ... ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Seizure, Cerebellar atrophy, Dysmetria, Optic a... OMIM:617988
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Abnormal cerebel... ORPHA:280234
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Cerebellar hypoplasia, Ataxia, Seizure, Spastic tetraplegia, Optic atrophy, Ri... OMIM:618476
Leukodystrophy, Hypomyelinating, 2
Dystonia, Choreoathetosis, Decreased motor nerve conduction velocity, Spastic paraparesis, Cerebr... OMIM:608804
Dravet Syndrome
Global brain atrophy, Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemic... ORPHA:33069
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Steppage gait, Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria,... OMIM:616505
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal cranial nerve morphology, Rigidity, Akinesia, Abnormal ... ORPHA:247234
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Positive Romberg sign, Clumsiness, Autonomic bladder dysfunction, Foca... ORPHA:447896
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Cereb... OMIM:600224
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral ... OMIM:614487
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, Neurodegeneration, Seizure, Diffuse cerebral atr... OMIM:245200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Focal-onset seizure, Hypertonia, Ataxia, Brain a... OMIM:619092
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Axonal degeneration, Limb ataxia, Oculomotor aprax... OMIM:208920
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Hsd10 Disease, Infantile Type
Dystonia, Poor coordination, Spastic diplegia, Spastic tetraparesis, Retinal degeneration, Hyperk... ORPHA:391428
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetraplegia, Fa... OMIM:604484
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Status epilepticus, Seizure, Cerebellar atrophy, Facial palsy, Optic atrophy, ... OMIM:616239
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Dense calcifications in the cerebellar dent... OMIM:213600
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemiparesis, Slurr... ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, Cerebral cortical... OMIM:614559
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Decreased motor nerve conduction velocity, Decreased sensory nerve co... OMIM:270550
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Abnormality of retinal pigmentation, Tremor, Dystonia, Hypertonia, Abnormal p... ORPHA:96
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Seizure, Torticollis, Cer... ORPHA:98768
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic dysarthria, Oculomotor apraxia, Cerebe... ORPHA:313772
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Seizure, Cerebell... OMIM:617951
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... ORPHA:363654
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypertonia, Ce... OMIM:618877
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Impaired proprioception, Rigidity, Hypoplasia of the pons, Postural tremor, Corpu... ORPHA:412057
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Abnormality of extrapyramidal motor function, Global brain atrophy, Hyperactivity, Rigi... OMIM:234200
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Clumsiness, Loss of ability to walk, Ataxia, Status epilepticus, Epilepsia partialis continua, Ce... OMIM:271245
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Dystonia, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Rigidity OMIM:261640
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Neuronal Intranuclear Inclusion Disease
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, G... OMIM:603472
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure, Ata... ORPHA:1947
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Pontocereb... OMIM:618060
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Impaired pain sensation, Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... ORPHA:306669
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Familial Infantile Myoclonic Epilepsy
Clumsiness, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clonic seizure,... ORPHA:352582
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... OMIM:612020
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Head titubation, Seizure, Cerebellar a... OMIM:301790
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Speech apraxia, Difficulty walking, Hypertonia, Gait disturbance, Neurodegen... ORPHA:79244
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Cerebral Visual Impairment
Clumsiness, Neurodegeneration, Oculomotor apraxia, Retinopathy of prematurity, Seizure, Increased... ORPHA:447788
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Cerebral atrophy, Bilateral tonic-clonic s... OMIM:612164
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Cerebral atrophy, Pa... OMIM:272750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Axonal degeneration, Global brain atrophy, Seizure, Cerebellar atrophy, Optic neuropath... OMIM:616811
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Retinal dystrophy, Facial palsy OMIM:613155
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Pigmentary retinopathy, Gait disturbance, Ataxia, Abnormal se... ORPHA:88628
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Cerebellar atrophy, Park... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Decreased motor nerve conduction velocity, Spastic paraparesis, Diffic... ORPHA:101077
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Ab... ORPHA:99027
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Brain atrophy, Seizure, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Seizure, Cerebellar atrophy, Abnormal cerebellum morphology, Dys... OMIM:618056
Aceruloplasminemia
Abnormality of retinal pigmentation, Tremor, Gait ataxia, Rigidity, Dystonia, Akinesia, Chorea, L... ORPHA:48818
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormality of the seventh cranial nerve, Tremor, Somatic sensory dysfunction,... ORPHA:90117
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Global br... ORPHA:52368
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Spinocerebellar Ataxia 21
Postural tremor, Cogwheel rigidity, Gait ataxia, Dystonia, Akinesia, Abnormality of extrapyramida... OMIM:607454
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Diffic... ORPHA:477673
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Gait disturbance, Hypertonia, Photosensitive myoclo... ORPHA:1192
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Spinocerebellar atrophy, Head tremor, Difficulty walking, Progressive cerebellar ata... ORPHA:95433
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Spastic gait, U... ORPHA:458803
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Seizure, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Positive Romberg sign, Gait ataxia, Limb ataxia, Abnormal autonomic nervous... OMIM:614575
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Cerebellar edema, Tetraparesis, Ataxia, Brain atrophy, Seizure OMIM:617186
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Multiple System Atrophy 1, Susceptibility To
Tremor, Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous system physiology,... OMIM:146500
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Tay-Sachs Disease
Dystonia, Clumsiness, Global brain atrophy, Poor fine motor coordination, Ankle clonus, Focal imp... ORPHA:845
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Dopa-Responsive Dystonia
Inability to walk, Generalized tonic seizure, Tremor, Dystonia, Lethargy, Abnormality of extrapyr... ORPHA:255
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Cerebral atrophy, Toe walking, Abnormality of the o... ORPHA:83629
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Congenital Disorder Of Glycosylation, Type Ie
Abnormal macular morphology, Tremor, Pontocerebellar atrophy, Ataxia, Seizure, Optic atrophy, Ret... OMIM:608799
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Cerebral atrophy, Resting tremor, Ataxia, Cerebellar atrophy, Babinski sign, Atrophy... ORPHA:314404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Decreased motor nerve conduction velocity, Head tremor, Chorea, Pr... OMIM:606002
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Giant somatosensory evoked potenti... OMIM:607876
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Gait disturbance, Poor coordination, Myoclonic absence seizure, A... ORPHA:544254
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Chorea, Cerebral atrophy, Neurodegeneration, Ataxia, Seizure OMIM:618321
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal det... OMIM:615181
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Hypoplasia of the pons, Impaired vibratory sensation, Limb ataxia, Ataxia,... ORPHA:98760
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Seizure OMIM:617248
Hypobetalipoproteinemia, Familial, 1
Ataxia, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Choreoathetosis, Dystonia, Lethargy, Hyperkinetic movements, Seizure, Limb hypertonia, Ri... OMIM:233910
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:102
Sialidosis Type 2
Seizure, Abnormal macular morphology, Tremor, Ataxia ORPHA:87876
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar dysplasia, Bi... ORPHA:457240
Amyotrophic Lateral Sclerosis 8
Fasciculations, Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral scl... OMIM:608627
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Tremor, Difficulty walking, Cerebral atrophy, Cerebellar vermis hypoplasia, ... ORPHA:572798
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Abnormal pyramidal sign, Lower limb hypertonia, Seizure, Spastic... ORPHA:447753
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Cerebellar atrophy, Optic atrophy, Cataplexy, Spasticity OMIM:604121
Wolfram Syndrome 1
Tremor, Pigmentary retinopathy, Cerebral atrophy, Ataxia, Seizure, Optic atrophy OMIM:222300
Leber Optic Atrophy
Postural tremor, Dystonia, Central retinal vessel vascular tortuosity, Ataxia, Leber optic atroph... OMIM:535000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Seizure, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... ORPHA:3077
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Poor coordination, Spastic diplegia, Cerebral atrophy, A... OMIM:616878
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Amyotrophic Lateral Sclerosis
Neurodegeneration, Paralysis, Amyotrophic lateral sclerosis, Motor neuron atrophy, Spasticity ORPHA:803
Crigler-Najjar Syndrome Type 1
Seizure, Tremor ORPHA:79234
Cystathioninuria
Seizure, Tremor ORPHA:212
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Hemiparesis, Ataxia, Abnormal auton... OMIM:105210
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... ORPHA:64753
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:227510
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Seizure, Athetosis OMIM:617106
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, Ataxia, Simple febrile seiz... ORPHA:1942
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Hypertonia, Toe walking, Upper motor neuron dysfunction, Decreased dista... ORPHA:466768
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Abnormal autonomic nervous system physiology, Ocul... OMIM:618049
Sneddon Syndrome
Seizure, Tremor, Hemiplegia, Facial palsy OMIM:182410
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Pigmentary retinopathy, Difficulty... OMIM:617675
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:98933
Sialidosis Type 1
Tremor, Slurred speech, Gait disturbance, Ataxia, Seizure, Myoclonus, Decreased nerve conduction ... ORPHA:812
Spontaneous Periodic Hypothermia
Seizure, Gait disturbance, Tremor, Ataxia ORPHA:29822
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dystonia, Rigidity, Pallidal degeneration, Poor motor coordination, Chorea, Ataxia, Seizu... ORPHA:25
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Brain atrophy OMIM:278760
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Hyperkinetic movements, Cerebellar vermis hypoplasia, Seizure, Abnormal... OMIM:300957
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Hypertonia, Spastic tetrapares... ORPHA:352649
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Seizure, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... ORPHA:70594
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Seizure, Choreoath... ORPHA:765
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Focal-onset seizure, Chorea, Gait disturbance, Resting tremor,... ORPHA:225147
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Knobloch Syndrome 1
Cerebral atrophy, Ataxia, Macular hypoplasia, Seizure, Cerebellar atrophy, Vitreoretinopathy, Ret... OMIM:267750
Sneddon Syndrome
Seizure, Chorea, Tremor, Hemiparesis ORPHA:820
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor, Abnormal cerebellum morphology OMIM:190310
Joubert Syndrome With Ocular Defect
Tremor, Retinal coloboma, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aga... ORPHA:220493
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Pigmentary retinopathy, Difficulty walking, Cerebellar hypoplasia, Pr... ORPHA:502423
Trisomy X
Seizure, Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Par... OMIM:168600
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Dystonia, Parkinsonism with favorable response to dopaminergi... ORPHA:199351
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Tremor, Dystonia, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Seizure, Cerebellar vermis atrophy, Hyperactivity OMIM:300354
East Syndrome
Inability to walk, Difficulty walking, Ataxia, Action tremor, Seizure, Cerebellar atrophy, Genera... ORPHA:199343
Angelman Syndrome
Inability to walk, Tremor, Atypical absence seizure, Broad-based gait, Atonic seizure, Bilateral ... ORPHA:72
Chediak-Higashi Syndrome
Tremor, Gait disturbance, Neurodegeneration, Ocular albinism, Ataxia, Macular hypoplasia, Seizure... OMIM:214500
Progressive Supranuclear Palsy
Tremor, Dystonia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gait, Falls, R... ORPHA:683
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Abnormal autonomic nervous system physiology, ... OMIM:616840
Congenital Bile Acid Synthesis Defect Type 4
Seizure, Tremor ORPHA:79095
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Dystonia, Axial dystonia, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Retinal dystrophy ORPHA:713
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain atrophy, ... ORPHA:909
4Q21 Microdeletion Syndrome
Seizure, Tremor, Cerebellar hypoplasia, Stereotypy ORPHA:238750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, S... OMIM:218000
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Tremor, Lethargy ORPHA:276608
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Seizure, Spasticity ORPHA:100
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Atrophy of the spinal cord ORPHA:99965
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Seizure, Parkinsonism, Shuffling gait OMIM:311510
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Joubert Syndrome With Renal Defect
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aganglionic megacolon... ORPHA:220497
Joubert Syndrome
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aganglionic megacolon... ORPHA:475
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Generalized clonic seizure, Generalized tonic seizure, Tremor, Global brain at... OMIM:619229
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Cerebellar vermis atrophy, Upper motor neur... ORPHA:646
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Seizure, Paraplegia, Attention deficit hyperactivity disorder ORPHA:79254
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Dystonia, Decreased motor nerve conduction veloci... ORPHA:79139
Gm1 Gangliosidosis
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Retinop... ORPHA:354
Mucopolysaccharidosis, Type Ii
Seizure, Abnormality of retinal pigmentation, Neurodegeneration, Papilledema OMIM:309900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Seizure, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperactivity, Gai... ORPHA:98794
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:612199
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Parkinsonism, Decreased nerve conduction velocity, Fasciculations, Fr... ORPHA:329478
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Parkinsonism, Falls, Limb dystoni... OMIM:601104
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Seizure, Tremor, Decreased nerve conduction velocity ORPHA:397744
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Broad-based gait OMIM:615490
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor, Hypertensive retinopathy, Cranial nerve compression ORPHA:94080
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Seizure, Tremor, Ataxia OMIM:220111
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Ddost-Cdg
Seizure, Oromotor apraxia, Tremor ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Dystonia, Ataxia, Seizure, Optic neuropathy, Optic atrophy OMIM:610505
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Dystonia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Ch├ędiak-Higashi Syndrome
Spastic paraplegia, Inability to walk, Abnormality of retinal pigmentation, Tremor, Gait disturba... ORPHA:167
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Cogwheel rigidity, Lethargy, Abnormality of extrapyramidal motor function, H... ORPHA:254892
Tetanus
Tremor, Autonomic bladder dysfunction, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Cockayne Syndrome Type 1
Tremor, Pigmentary retinopathy, Difficulty walking, Gait disturbance, Ataxia, Seizure, Lower limb... ORPHA:90321
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Tremor, Aplasia/Hypoplasia of the cerebellum, Optic disc coloboma, Gait d... ORPHA:1454
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Positive Romberg sign, Extrapyramidal muscular rigidity, Paresthesia, Resting tr... ORPHA:67036
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Seizure, ... OMIM:277400
Chromosome 18Q Deletion Syndrome
Tremor, Chorea, Poor coordination, Cerebellar hypoplasia, Seizure, Optic atrophy, Rod-cone dystro... OMIM:601808
Metachromatic Leukodystrophy
Tremor, Incoordination, Dystonia, Decreased nerve conduction velocity, Gait disturbance, Toe walk... ORPHA:512
Typhoid
Hypertonia, Lethargy, Tremor, Ataxia ORPHA:99745
Perry Syndrome
Tremor, Dystonia, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Tick-Borne Encephalitis
Tremor, Incoordination, Abnormal cranial nerve morphology, Speech apraxia, Focal-onset seizure, H... ORPHA:297
Tyrosinemia Type 2
Seizure, Tremor, Ataxia ORPHA:28378
Serotonin Syndrome
Tremor, Hypertonia, Seizure, Myoclonus, Clonus, Abnormality of the autonomic nervous system, Rigi... ORPHA:43116
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Unsteady gait, Optic disc pallor, Spasticity OMIM:615512
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Tremor, Dystonia, Gait disturbance, Cerebellar vermis hypoplasia, Spastic diplegia, Cerebellar hy... OMIM:300966
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Young-Onset Parkinson Disease
Dystonia, Tremor, Abnormal autonomic nervous system physiology, Bradykinesia, Rigidity, Gait imba... ORPHA:2828
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Tremor, Dystonia, Abnormal pyramidal sign, Ataxia, Seizure, Cerebella... ORPHA:3008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1