Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ankyrin 3, epithelial
Synonyms:
2900054D09Rik,  Ankyrin-3,  Ankyrin-G,  Ank-3,  AnkG

IMPC Data Collections

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

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.

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 Ank3 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 Ank3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Seizure OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Seizure ORPHA:356996

The table below shows human diseases predicted to be associated to Ank3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 9
EEG abnormality, Spastic tetraplegia, Cerebellar hypoplasia, Inability to walk, Ataxia, Seizure OMIM:618174
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spinocerebellar Ataxia Type 5
Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance ORPHA:98766
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Ataxia, Increased neuronal autofluorescent... OMIM:600143
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Giant somatosensory evoked potentials, Se... OMIM:618876
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, My... ORPHA:363710
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Abnormality... OMIM:615362
Cerebellar Ataxia, Cayman Type
Intention tremor, Cerebellar hypoplasia, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, EEG abnormality, Generalized myoclonic seizure, Ataxia, Seizure OMIM:614706
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia, Cerebellar vermis atrophy ORPHA:211017
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Inability to walk, Generalized myoclonic seizure, Rigidity, Gait d... OMIM:618090
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Impaired v... ORPHA:171622
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Ba... OMIM:611252
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Increased neuronal autofluorescent lipopig... OMIM:610003
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Seizure... OMIM:300423
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Generalize... OMIM:611726
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Myoclonic absence seizure, Bradykinesia, Generalized myoclonic seizure... OMIM:617836
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Lower limb spasticity, Multifocal epilep... OMIM:618468
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebral cortical atrop... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cerebellar hypoplasia, Tremor, Unsteady gait, Limb ataxia, Spasticity, Trunca... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait OMIM:617133
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Progressive cerebella... ORPHA:284332
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:615957
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Olivopontocerebellar atrophy, Ataxia, Cerebral cortical atrophy, Seizure, Hypert... ORPHA:2732
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure OMIM:615705
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Focal-onset seizure, Enhancem... OMIM:613608
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Abnormal cerebellum morphology, Increased neuronal autofluorescent lipopigm... OMIM:162350
Episodic Ataxia, Type 9
Tonic seizure, Dystonia, Seizure, Cerebellar edema, Bilateral tonic-clonic seizure, Clonic seizur... OMIM:618924
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Intention tremor, Lower limb spasticity, ... OMIM:616948
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, EEG abnormality, Atonic seizure, Myoclonic seizure, Cerebellar hyp... OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, Seizure OMIM:614322
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Intention tremor, Isometric tremor, ... ORPHA:101110
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... ORPHA:314978
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Ataxia, Increased neuronal autofluorescent lipopigment, Dysdiadoch... OMIM:256731
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, EEG abnormality, Seizure OMIM:617643
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Difficulty walking, Brain atrophy ORPHA:363432
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Rigidity, Spasticity, Gait disturbance, Se... OMIM:616981
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Atrophy of the dentate nucleus... OMIM:125370
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Seizure, Spasticity, Clumsiness, Abnormality of extrapyramidal m... ORPHA:79262
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Gait atax... OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Bilateral ton... OMIM:619028
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Cln5 Disease
Poor gross motor coordination, Tremor, Cerebellar atrophy, Dysmetria, EEG with spike-wave complex... ORPHA:228360
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Abnormal cerebellum morphology, Poor coordination, Spasticity, Clumsines... OMIM:270500
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Cerebellar vermis atrophy, Intention tremor, Febrile seizure ... ORPHA:512260
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gait ataxia, ... OMIM:616192
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, EEG with generalized epileptiform discharges, Gait ataxia, Seizure, Slurred s... OMIM:619323
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia... OMIM:607346
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor, Epileptic spasm, Seizure, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Ataxia, Spasticity, Seizure, Hypertonia OMIM:613925
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Generalized-onset se... ORPHA:79263
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular dystoni... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the ce... ORPHA:401820
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, EEG with focal epileptiform discharges, Cerebellar atrophy, Chi... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Enhancement of the C-reflex, Bilateral tonic-clonic seizure, Sei... OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Generalized myoclonic seizure... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Dystonia, Stereotypical hand wringing, Inabi... OMIM:618917
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, EEG with spike-w... OMIM:618587
Nescav Syndrome
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity, B... OMIM:614255
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tr... OMIM:618425
Camos Syndrome
Ataxia, Seizure, Progressive extrapyramidal movement disorder, Spasticity, Aplasia/Hypoplasia of ... ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Babinski sign, Tremor OMIM:300660
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Seizure, EEG with focal spikes OMIM:616917
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Hypertonia, Dystonia, Caudate atro... OMIM:617435
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:617770
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... ORPHA:95434
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Generalized myoclonic seizure, Ataxia, Neu... OMIM:610951
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Blepharospasm, Generalized myoclonic seizure, Ataxia, EEG with focal spike wa... ORPHA:352582
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Continuous Spikes And Waves During Sleep
Dystonia, Focal aware seizure, Typical absence seizure, Hyperkinetic movements, Interictal epilep... ORPHA:725
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, EEG abnormality, Inability to walk, Multifocal epileptiform discharges, Gait ... OMIM:617166
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Neuronal loss in central nervous... OMIM:143100
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Bilateral ton... OMIM:618093
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, EEG with polyspike wave complexes, Limb ataxia, Morning myoclonic jerks... ORPHA:308
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Frequent falls, Atonic seizure, Apraxia, Extrapyram... ORPHA:93952
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, B... OMIM:610357
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, EEG abnormality, Cerebellar hypoplasia, Seizure, Gait ataxia, Spas... ORPHA:529665
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Atonic seizure, Generalized myoclonic seizure, Abn... ORPHA:101070
Dravet Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Myoclonic seizure, Atonic seizure, Focal hemiclonic se... OMIM:607208
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk, Spasticity, Seizure, Hypsarrhythmia OMIM:617086
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized cerebral atrophy/hypoplasia, Bilateral tonic-clonic s... ORPHA:36387
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Dysdiadochok... OMIM:224050
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, EEG with spik... ORPHA:139426
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, EEG abnormality, Dystonia, Cerebellar hypoplasia, Spastic dysarthr... ORPHA:313772
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment, Seizure OMIM:607250
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Gait disturbance, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Spastic a... ORPHA:2572
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar ver... ORPHA:33445
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Ataxia, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus, Inc... OMIM:204500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Global brain atrophy, Dysdiadochokinesis, T... OMIM:610185
Myoclonic Epilepsy Of Unverricht And Lundborg
Interictal epileptiform activity, Ataxia, EEG with spike-wave complexes, EEG with polyspike wave ... OMIM:254800
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Gordon Holmes Syndrome
Cerebral atrophy, Cerebellar atrophy, Ataxia OMIM:212840
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Seizure, Ataxia OMIM:613402
Episodic Ataxia, Type 5
Atypical absence seizure, EEG with generalized spikes, Ataxia, EEG with spike-wave complexes, Feb... OMIM:613855
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Progressive cerebellar ataxia, Seizure, My... ORPHA:139485
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Abnormality of extrapyramidal motor function, ... OMIM:301020
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity OMIM:617916
Developmental And Epileptic Encephalopathy 56
EEG abnormality, Action tremor, Status epilepticus, Poor coordination, Ataxia, EEG with polyspike... OMIM:617665
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Atonic seizure, Inabili... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Spinocerebellar Ataxia 28
Cerebellar atrophy, Parkinsonism, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, ... OMIM:610246
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Parkinsonism, Abnormal pyramida... ORPHA:98759
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Seizure, Tremor OMIM:612438
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Im... OMIM:607565
Developmental And Epileptic Encephalopathy 92
EEG abnormality, Dystonia, Inability to walk, Ataxia, Seizure, Lethargy, Spasticity, Difficulty w... OMIM:617829
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
X-Linked Progressive Cerebellar Ataxia
Dysmetria, Frequent falls, Cerebellar vermis atrophy, Spastic dysarthria, Intention tremor, Unste... ORPHA:1175
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myo... OMIM:614018
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Spastic paraparesis, Generalized myoclonic seizure, Atax... OMIM:614487
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Frequent falls, Abnormal pyramidal sign, Titubat... ORPHA:397946
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Bradykinesia, Ataxia, Progressive cerebe... ORPHA:248111
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Dystonia, Choreoathetosis, Focal hemiclonic seizure, Myoclonic ... OMIM:619317
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Spasticity, Myoclonus, Tremor OMIM:616494
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Spastic tetraparesis, Seizure, Brain atrophy OMIM:618741
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Tongue fasciculations, Spa... OMIM:618276
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Prolonged somatosensor... OMIM:608105
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Spasticity, C... OMIM:618088
Spinocerebellar Ataxia Type 10
Kinetic tremor, Cerebellar atrophy, Dysmetria, Generalized-onset seizure, Intention tremor, Lower... ORPHA:98761
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Cerebellar atrophy, Inability to walk OMIM:617915
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Nocturnal seizures, EEG with temporal focal spikes, Frequent falls... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Impaired vibrat... ORPHA:98
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic tetraparesis, Seizure, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Abnormal m... OMIM:618404
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar hypoplasia, Inability to walk, Ataxia, Unsteady gait, Oculomotor apraxia, Seizure OMIM:618273
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Frequent falls, Dystonia, Intention tremor, Oculomotor apraxia, Unsteady gait, Gait at... ORPHA:453521
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Cerebellar vermis atrophy, Spastic dysarthria, Global brain atrophy, Impaired vibration sensation... ORPHA:94124
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:615386
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Cerebellar calcifications, Generalized dystonia, Bradykinesia, Limb dystonia, Rigid... OMIM:618824
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Glut1 Deficiency Syndrome 1
Paralysis, EEG abnormality, Choreoathetosis, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysma... OMIM:606777
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Dystonia, Ataxia, Ri... OMIM:617672
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Abnormal cerebe... OMIM:618317
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia OMIM:615217
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Atypical absence seizure, Atonic seizure, Gener... ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Torticollis OMIM:618369
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse cerebral atrophy, Gait disturbance, Ba... ORPHA:314632
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Abnormal pyramidal sign, Focal hemiclonic seizure, Bilateral tonic-clonic seizu... OMIM:616645
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, EEG with burst suppression, Hypoplasia of the pons, My... OMIM:619303
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Ata... OMIM:618170
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Focal-onse... OMIM:619605
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Spasticity, Seizure, Hypsarrhythmia OMIM:226750
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Tip-toe gait, Axonal ... OMIM:302800
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia, Chorea OMIM:618501
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Ata... OMIM:616204
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... OMIM:605361
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Generalized-onset seizure, Intention tremor, Gait ataxia, Post... OMIM:254900
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Spasticity, Generalized non-motor (absence) seizure, Babi... OMIM:618242
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
EEG abnormality, Dystonia, Paroxysmal dyskinesia, Ataxia, Poor coordination, Focal-onset seizure,... OMIM:619150
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:600363
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Focal motor seizure, Generalized clonic seizure, Focal clonic s... ORPHA:306
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Dystonia, Cerebellar hypoplasia, Spastic dysarthria, Progressive cerebellar ataxia, Ga... ORPHA:314603
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia OMIM:610743
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Pa... ORPHA:53583
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Cerebellar atrophy, Spastic tetraparesis, Dystonia, Atonic se... ORPHA:79097
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Spasticity, Cerebral cortical atrophy, Spas... OMIM:611390
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Cerebellar hypoplasia, Gait ataxia, Bilateral tonic-clonic seizure, Gait imba... ORPHA:488635
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Ataxia, Gait ataxia, ... ORPHA:208513
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... ORPHA:385
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... OMIM:164500
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, EEG abnormality, Generalized myoclonic seizure, Ataxia, Bilateral tonic-cloni... OMIM:271980
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity, Seizure OMIM:617207
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Seizure, Ataxia OMIM:618879
Spinocerebellar Ataxia 10
Incoordination, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Decreased nerve conductio... OMIM:603516
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... OMIM:600224
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Postural tremor, Gait di... ORPHA:100988
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tonic seizure... OMIM:619606
Spinocerebellar Ataxia 44
Cerebellar atrophy, Dysmetria, Frequent falls, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... OMIM:612319
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Clonus, Chorea, Seizure OMIM:613811
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Global brain atrophy, Focal aware seizure, Cogwh... ORPHA:33069
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Degener... OMIM:159950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Tremor, Abnormal cerebellum morphology, Impaire... ORPHA:137898
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... ORPHA:98756
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with series of focal spikes, EEG with photoparoxysmal response, EEG with ge... ORPHA:168491
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Normal interictal EEG, Hypertonia OMIM:269720
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesi... ORPHA:454887
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... ORPHA:98773
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
Spinocerebellar Ataxia 34
Cerebellar atrophy, Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Glut1 Deficiency Syndrome 2
Cerebral atrophy, EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Generalized myoclonic-atonic seizure, Spasticity, Bi... OMIM:619701
Pontocerebellar Hypoplasia, Type 14
Dystonia, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hypoplasia of the pons... OMIM:619301
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Interictal epileptiform activity, Dystonia, Focal-onset seizure, Bilateral ton... OMIM:619157
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Dystonia, Involuntary movements, Inability to walk, Ataxia,... OMIM:617804
Episodic Ataxia Type 6
Cerebellar atrophy, Ataxia, Hemiplegia, Seizure, Slurred speech ORPHA:209967
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity OMIM:619639
Null Syndrome
Progressive spastic paraplegia, Inability to walk, Ataxia, Abnormal cerebellum morphology, Decrea... ORPHA:280234
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Dystonia, Stereotypical hand wringing, Inability ... OMIM:618760
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Speech apra... OMIM:245570
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... ORPHA:420492
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Impaired vibration sensation in the lower limbs, Unsteady ... OMIM:159550
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, EEG with spike-wave complexes, Focal aware seizure, Focal impaired awar... OMIM:614417
Spinocerebellar Ataxia 27
Cerebellar atrophy, Impaired vibratory sensation, Head tremor, Ataxia, Gait ataxia, Truncal ataxi... OMIM:609307
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Tremor ORPHA:101075
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Spastic tetraplegia, Inability to walk, Gen... ORPHA:1947
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Dys... OMIM:618356
Developmental And Epileptic Encephalopathy 94
Tonic seizure, EEG with generalized spikes, Atonic seizure, Visually-induced seizure, Generalized... OMIM:615369
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dysmetria, Frequent falls, Dystonia, Dilated fourth ventricle, Intention trem... ORPHA:251347
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral ton... OMIM:104290
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Gait disturbance, ... OMIM:618012
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Spasticity, Seizure OMIM:617954
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Ataxia, Poor coordination, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary mov... ORPHA:3095
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Rasmussen Subacute Encephalitis
Global brain atrophy, Focal aware seizure, Epileptic spasm, EEG with focal sharp slow waves, Inte... ORPHA:1929
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Dystonia, Global brain atrophy, Atax... OMIM:619738
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Frequent falls, Choreoathetosis, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Lim... OMIM:619054
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Generalized-onset seizure, Intention tremor, Fasciculations, Progr... ORPHA:284289
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Generalized non-motor (absence) seizure, Bilateral tonic-clonic ... OMIM:254770
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Oculomotor apraxia, Tremor OMIM:614867
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Deja vu aura, Focal aware seizure, Interictal EEG abnorma... ORPHA:98820
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Frequent falls, Dystonia, Spastic paraplegia, Abnormal cerebellum morpho... OMIM:609195
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Leukodystrophy, Hypomyelinating, 5
Intention tremor, Loss of ability to walk, Inability to walk, Abnormal cerebellum morphology, Dec... OMIM:610532
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Dystonia, Unsteady gait, Gait ataxia, Rigidity, Bilateral tonic-clonic seizure, Falls OMIM:203740
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Inability to walk, Impaired distal vi... ORPHA:276435
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), G... OMIM:609446
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Cerebellar atrophy, Progressive cerebellar ataxia, Spast... OMIM:608768
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Difficulty walking ORPHA:101685
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Abnormal pyramidal sign, Limb dystonia, Truncal ataxia, Spasticity, Head titu... OMIM:617560
New-Onset Refractory Status Epilepticus
EEG with generalized slow activity, Refractory status epilepticus, Global brain atrophy, Focal aw... ORPHA:363558
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Ataxia, Seizure, Progres... ORPHA:527497
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Cerebellar atrophy, Ataxia, Spasticity, Seizure, Myoclonus, Hypertonia OMIM:618426
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor ORPHA:101078
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Upper limb spasticity, Head tremor, Upper lim... OMIM:614409
Hypermanganesemia With Dystonia 2
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Opisthotonus, Dystonia, General... OMIM:617013
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Seizure, Tremor OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:614229
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Generalized-onset seizure, Focal-onset seizure, Myoclonus ORPHA:86814
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Dis... OMIM:612674
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, Lo... ORPHA:276198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Axonal degeneration, G... OMIM:208920
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, F... OMIM:183090
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... OMIM:618060
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Seizure, Hypertonia OMIM:261640
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Difficulty walking, Ataxia, Cerebral cortical atrophy OMIM:619425
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, EEG abnormality, ... ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Atrophy of the spinal cord, Lower limb spasticity, Spastic paraplegia, Gait a... ORPHA:139480
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait... ORPHA:289494
Pyridoxine-Dependent Epilepsy
EEG with generalized slow activity, Atonic seizure, Focal aware motor seizure, Focal-onset seizur... ORPHA:3006
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, A... OMIM:215470
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Decreased sensory nerve conduction velocity, Decreased motor... OMIM:603472
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Paroxysmal dyskinesia, Chorea, Generalized non-motor (absence) seizure... ORPHA:79137
Pontocerebellar Hypoplasia, Type 15
Dystonia, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Bilateral tonic-clonic... OMIM:619302
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Focal-onset seizure, Paraparesis, Spasticity, Progr... ORPHA:726
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Interictal epileptiform activity, Generalized-onset seizu... ORPHA:101046
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Tremor OMIM:618951
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Somatic sensory dysfunction, Head tremor, Gait ataxia, Titubation ORPHA:98771
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Upper limb spasticity, Spastic dys... ORPHA:320391
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Global brain atrophy, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Choreoathetosis, Generalized dystonia, Cerebellar hypoplasia, Ataxia, Multifoca... OMIM:272300
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Infantile spasms, Tremor OMIM:278780
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:608278
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... OMIM:137440
Myoclonic Epilepsy Of Infancy
EEG with irregular generalized spike and wave complexes, Poor hand-eye coordination, Photosensiti... ORPHA:86909
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Spasticity, Seizure, Tremor OMIM:300983
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Scissor gait, Spasticity, D... ORPHA:363654
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Late-Infantile/Juvenile Krabbe Disease
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Frequent falls, Upper moto... ORPHA:206443
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Generalized dysto... ORPHA:329308
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rig... OMIM:610127
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Myoclonus, Spastic diplegia OMIM:619065
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Hypertonia, Abnormal cerebellum morphology, Gait ataxia, Truncal t... OMIM:618056
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Generalized myoclonic seizure, Focal-onset seizure, Hemip... ORPHA:101071
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Mitochondrial Dna Depletion Syndrome 17
Hemiballismus, Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Chorea, Seizure, Statu... OMIM:618567
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Decreased motor nerve conduc... ORPHA:101077
Spinocerebellar Ataxia 13
Cerebellar atrophy, Abnormal pyramidal sign, Gait ataxia, Progressive cerebellar ataxia, Limb dys... OMIM:605259
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Cerebral atrophy, Inability t... OMIM:618877
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Global brain atrophy, Status epilepticus, Multifocal epileptiform discharges, Bi... OMIM:609056
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia OMIM:613721
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Frequent falls, Dystonia, Lower limb spasticity, Gait ataxia, Chorea, Dysdiad... OMIM:604391
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Ataxia, Steppage gait, Cerebellar gl... OMIM:616505
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Difficulty walk... ORPHA:306669
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Ataxia, Focal-onset seizure, Gait ataxia, Bilateral tonic... OMIM:619092
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, Tremor,... OMIM:612164
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Ataxia, Impaired vibration sensation i... OMIM:270550
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Decreased nerve conduction velocity, Hypertonia ORPHA:1368
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Frontotemporal cerebral... ORPHA:391417
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Frequent falls, Somatic sensory dysfunction, Chor... ORPHA:206594
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extrapyra... ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Seizure, Tremor OMIM:612716
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Spastic... OMIM:617988
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocity, Rigidity, Spasticity OMIM:183050
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Impaired vibration sensation in ... OMIM:607259
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetra... OMIM:613477
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Ataxia OMIM:616781
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Athetosis, Focal-onset seizure, Ataxia, Cerebral cortical atrophy, Bilateral ... OMIM:614559
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting ... ORPHA:445062
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Steppage gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, De... OMIM:609260
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, EEG with continuous slow activity, Upper motor neuron dysfuncti... ORPHA:275864
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Inferior cerebellar vermis hypop... ORPHA:370022
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Seizure, Myoclonus, Hypertonia OMIM:261630
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, EEG abnormality, Dystonia, Febrile seizure (within the age range of 3 months ... OMIM:618868
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Seizure, Tremor OMIM:619422
Developmental And Epileptic Encephalopathy 65
Cerebral atrophy, Cerebellar atrophy, EEG with burst suppression, Spasticity, Seizure, Hypsarrhyt... OMIM:618008
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Abnormal cerebellum morphology, Postural tremor,... OMIM:607694
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, EEG abnormality, Dystonia, Abnormal peripheral action potential amplitude, Inab... ORPHA:457205
Spinocerebellar Ataxia 21
Cerebellar atrophy, Parkinsonism, Dystonia, Intention tremor, Ataxia, Akinesia, Cogwheel rigidity... OMIM:607454
Familial Paroxysmal Ataxia
Dystonia, Cerebellar vermis atrophy, Ataxia, Hemiplegia, Torticollis ORPHA:97
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Cerebellar hypoplasia, Inability to walk, Tremor, Ataxia, Seizure, Hypertonia OMIM:619556
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Babin... ORPHA:477673
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait OMIM:300861
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Bradykinesia, Seizure, Gait ataxia, Impaired distal vibration sensation, Tort... ORPHA:98768
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Seizure, ... OMIM:606693
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wit... ORPHA:1941
Caribbean Parkinsonism
Action tremor, Parkinsonism, Dystonia, Apraxia, Bradykinesia, Weakness due to upper motor neuron ... ORPHA:97355
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Parkinsonism with ... ORPHA:53351
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Gait disturbance, Bilateral tonic-clonic seizure, Upper l... ORPHA:457240
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Choreoathetosis, Dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Hypsarrhythmia,... ORPHA:13
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Cerebellar atrophy, Ataxia, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:614575
Developmental And Epileptic Encephalopathy 42
EEG abnormality, Athetosis, Ataxia, Tremor, Seizure, Hypertonia OMIM:617106
Lissencephaly 10
Atypical absence seizure, EEG abnormality, Tonic seizure, Atonic seizure, Myoclonic seizure, Gene... OMIM:618873
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Cerebral atrophy, Dystonia, Atonic seizure, Focal motor seizure, Motor stereoty... ORPHA:178469
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Abnormal pyramidal sign, EEG with persistent abnormal rhythm... ORPHA:282166
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Dystonia, Generalized myoclonic seizure, Lower ... ORPHA:464282
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Cerebellar vermis atrop... OMIM:312080
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, EEG with polyspike wave com... OMIM:607682
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Intention tremor, Inabil... OMIM:617951
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of a... ORPHA:79264
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Tremor, Cerebral cortical atrophy, Gait disturbance, Aplasia/Hy... ORPHA:1192
Spinocerebellar Ataxia 36
Incoordination, Cerebellar atrophy, Fasciculations, Ataxia, Gait ataxia, Truncal ataxia, Tongue f... OMIM:614153
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Spasticity, Seizure, Brain atrophy, Tremor OMIM:618718
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Unsteady gait, Speech apraxia, Rigidity,... ORPHA:412057
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Abnormal pyramidal sign, Interictal epileptiform activity, At... ORPHA:1942
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Involuntary movements, Limb hypertonia, Ataxia, Hypsarrhythmia, Unsteady gait, ... ORPHA:442835
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Infantile spasms, Unsteady gait, Progressive cerebellar ataxia, Cerebral c... ORPHA:485350
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, Tremor OMIM:618637
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Seizure, Broad-based gait, Tremor OMIM:619470
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic paraplegia, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Progressiv... ORPHA:513436
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, C... OMIM:300055
Severe Canavan Disease
Inability to walk, Lethargy, Spasticity, Decerebrate rigidity, Bilateral tonic-clonic seizure, Ba... ORPHA:314911
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Shuffling gait, Bradykinesia, Ataxia, Cogwhe... ORPHA:254886
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Limb fasciculations, Abnormal peripheral action potential amplitude,... ORPHA:90117
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysmetria, Dystonia, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Impaired vibrat... ORPHA:447896
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Atypical absence seizure, Tonic seizure, Head tremor, ... OMIM:619428
Gillespie Syndrome
Cerebellar hypoplasia, Postural tremor, Ataxia, Slurred speech OMIM:206700
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Hypsarrhythmia OMIM:616341
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Clonus, Abnormal cerebellar peduncle morphology, Tremo... ORPHA:99027
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Cerebellar vermis atrophy, Inte... OMIM:614381
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Impaired proprioception, Pontocerebellar a... OMIM:606002
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Dysmetria, Ataxia, Broad-based gait OMIM:618098
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Cerebellar atrophy, Extrapyramidal dyskinesia, Opisthotonus, Dystonia, Cerebell... OMIM:612389
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Parkinsonism, Dystonia, Neurodegenera... OMIM:614298
Developmental And Epileptic Encephalopathy 90
Ankle clonus, Cerebral atrophy, Bilateral tonic-clonic seizure, Limb hypertonia, Focal-onset seiz... OMIM:301058
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Status epilepticus, Ata... ORPHA:363400
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Gait ataxia, Distal sensory impairment, Decreased motor nerve conduction velocity,... OMIM:180800
Foxg1 Syndrome
Dystonia, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Stat... ORPHA:561854
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decre... OMIM:256600
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... ORPHA:280219
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Dystonia, Oculogyric crisis, Oromandibular dys... OMIM:613135
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Lower limb spasticity, Focal EEG discharges with se... ORPHA:3077
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Atonic seizure, Spastic tetraplegia, Motor stereotypy, Paroxysmal dys... ORPHA:208447
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Cerebellar cortical atrophy, Atax... ORPHA:247234
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age range of 3 mont... ORPHA:289266