Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Ank3em1(IMPC)Bay HET Early adult 9.10×10-06
preweaning lethality, complete penetrance Ank3em1(IMPC)Bay HOM   Early adult 0.00

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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.

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
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonic seizure, Myoclonus, T... OMIM:616187
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Seizure, Tremor, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Seizure, My... OMIM:600143
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... OMIM:616230
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Seizure,... OMIM:618876
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Impai... OMIM:619742
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Increased neuronal autofluorescent lipopigment, Seizure, Abnormal cerebellum m... OMIM:162350
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Seizure, EEG with generalized polyspikes, Ataxia, Generalized myoclonic seizure OMIM:614706
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormali... OMIM:615362
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure... OMIM:610003
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Cerebellar atrophy, Generalized myoclonic seizure, Cerebral atrophy, Myoclonic... OMIM:611726
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... ORPHA:599373
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Seizure, Action tremor, Rigidity, Babins... OMIM:300423
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, EEG abnormalit... OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Seizure, Olivopontocerebellar atrophy, EEG abnormality, Hypertonia, At... ORPHA:2732
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Se... OMIM:256731
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Seizure, Inability to walk, Lower limb spasticity, Multifoc... OMIM:618468
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Cerebellar atrophy, EEG abnor... OMIM:617643
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Cerebellar edema, Tonic seizure, Bilateral tonic-clonic seizure, Status... OMIM:618924
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Gait disturbance, Spastic tetraparesis OMIM:620515
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Chore... OMIM:125370
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Focal impaired awa... ORPHA:330050
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:512260
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure,... OMIM:620540
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa... OMIM:615006
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... OMIM:618587
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
EEG with generalized epileptiform discharges, Cerebellar atrophy, Seizure, Gait ataxia, EEG with ... OMIM:619323
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal EEG discharges with secondary general... ORPHA:263516
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci... ORPHA:71517
Nescav Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Inability to walk, Cerebellar vermis a... OMIM:614255
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral ... OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Seizure, Inability to walk, Cerebellar vermis atrophy, ... OMIM:619389
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Seizure, Lower limb spasticity, Hypertonia, Ataxia, Upper l... OMIM:613925
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst... OMIM:213600
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... OMIM:618093
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Seizure, Cerebral atrophy, Cerebellar hypoplasia, EEG with focal spikes, Ataxia OMIM:616917
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, F... OMIM:117360
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Diffuse cerebral atrop... OMIM:616346
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Camos Syndrome
Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramidal mov... ORPHA:83472
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Epileptic spasm, Tremor, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality, Ataxia, Generalized myo... OMIM:610951
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... OMIM:608984
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfuncti... OMIM:619862
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... ORPHA:308
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... OMIM:617166
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, EEG with p... OMIM:617665
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Gait ataxia... OMIM:224050
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous syst... OMIM:143100
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-ons... ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella... ORPHA:101070
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Cerebral atrophy, Seizure, Cerebellar hypoplasia, Hypsarrhythmia, ... OMIM:226750
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:607208
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere... ORPHA:529665
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Status epilept... OMIM:204300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... ORPHA:139426
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Infantile spasms... OMIM:617493
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... OMIM:617904
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 mont... OMIM:618917
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction veloci... OMIM:607250
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth... OMIM:616409
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit... OMIM:617916
Spastic Ataxia-Corneal Dystrophy Syndrome
Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, A... ORPHA:2572
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Seizure, Ataxia OMIM:613402
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... OMIM:615400
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Progressive ce... OMIM:618412
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within t... OMIM:616366
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... OMIM:617106
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Seizur... OMIM:617435
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral... ORPHA:33445
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy, EEG with burst suppression, Refractory status epilepticus, ... OMIM:619605
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... ORPHA:313772
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, EEG abnormality,... OMIM:617829
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait OMIM:608636
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... ORPHA:1175
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of... OMIM:618012
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Abnormal nervous system electrophysiology, Myoclonus, Increase... OMIM:204500
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Seizure, EEG with burst suppression, Epileptic spasm, Myoclonus, Cerebellar h... OMIM:619971
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... ORPHA:98818
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... OMIM:607136
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Cerebellar atrophy, Focal impaired awareness seizur... ORPHA:98761
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Global brain atrophy, Hyperkinetic movements, Bilateral tonic-clonic seizure... OMIM:613721
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... OMIM:614487
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait... ORPHA:248111
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Seizure, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism,... OMIM:618824
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, EEG... OMIM:271980
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Global brain atrophy, Seizure, Cerebellar vermis atrophy, Impaired vibration ... ORPHA:94124
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Seizure, Decreased nerve conduction velocity, Abnormal motor nerv... OMIM:618404
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... ORPHA:453521
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski s... OMIM:606777
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... OMIM:617113
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie... ORPHA:98
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Myoclonus, Cerebellar hyp... OMIM:619303
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Seizure, Tremor, Rigidity, Dystonia, P... ORPHA:329284
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Spastic ata... ORPHA:314603
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Epileptic spasm, Hypsarrhythmia OMIM:617086
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle... OMIM:605361
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Low... ORPHA:98811
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia OMIM:620270
Lennox-Gastaut Syndrome
Falls, Atonic seizure, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG abnormality... ORPHA:2382
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramid... OMIM:204200
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... OMIM:600363
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Inability t... OMIM:617672
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Incoord... OMIM:302800
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Appendicular sp... OMIM:613811
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Folinic Acid-Responsive Seizures
Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Atonic seizure, Generalize... ORPHA:79097
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Generalized non-motor (absence) seiz... OMIM:618170
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi... OMIM:619606
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... OMIM:616139
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Akinesia, ... OMIM:300894
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Cerebral atrophy, Inability to walk, Infantile spasms, Hypsarrhythmia, Bilateral toni... OMIM:619701
Lissencephaly 3
Cerebellar vermis hypoplasia, Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... OMIM:611603
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at... ORPHA:1947
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... OMIM:613722
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Cerebellar atrophy, Seizure, Ataxia, Spastic tetraplegia OMIM:617207
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Bilateral ... OMIM:619157
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Seizure, Difficulty walking,... ORPHA:137898
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G... ORPHA:542310
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkin... ORPHA:98756
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegeneration, Dysmetria... OMIM:612319
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ... ORPHA:420492
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Focal im... OMIM:245570
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Cerebral atrophy, Generalized non-motor (absence) s... OMIM:620537
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Seizure, Gait imbalance, Gait ataxia, Cerebellar hypoplasia, EEG with focal s... ORPHA:488635
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal impaired awareness seizure, Seizure, Chorea, Complex febrile seizure... ORPHA:31709
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Myoclonic seizure, Cerebral atrophy, Seizure, ... OMIM:614254
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Dysmetria, Atrophy/Degeneration affec... OMIM:617954
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, An... OMIM:620546
Guanidinoacetate Methyltransferase Deficiency
Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnormality of extrapyramidal ... ORPHA:382
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slow activ... ORPHA:168491
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Hypoplasia of the pons, Infantile spasms, Focal-onset seizure, Cerebellar hypo... OMIM:619301
Null Syndrome
Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased nerve conduction... ORPHA:280234
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,... OMIM:615528
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo... OMIM:616540
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, ... OMIM:612438
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Cerebral atrophy, Seizure, Epileptic spasm, Atypical absence seizu... OMIM:617711
Spinocerebellar Ataxia 10
Cerebellar atrophy, Seizure, Incoordination, Decreased nerve conduction velocity, Limb fasciculat... OMIM:603516
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mo... OMIM:620208
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Chorea, EEG with photoparoxysmal response... OMIM:619922
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Involuntary movements, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Seizure, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Developmental And Epileptic Encephalopathy 63
Cerebral cortical atrophy, EEG with generalized epileptiform discharges, Myoclonic seizure, Cereb... OMIM:617976
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Athetosis,... OMIM:614559
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, T... OMIM:607694
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga... ORPHA:251347
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Paresthesia, Infantile spasms, Focal-onset seizure, Simple febrile se... ORPHA:98820
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:619970
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
Episodic Ataxia Type 6
Cerebellar atrophy, Seizure, Hemiplegia, Ataxia, Slurred speech ORPHA:209967
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Cerebral atrophy, Inability to walk, Epilept... ORPHA:293181
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait OMIM:620317
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve co... ORPHA:98755
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Difficulty walking, Cerebral cortical atrophy, Cerebellar atrophy, Ataxia OMIM:619425
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr... OMIM:605259
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Lim... ORPHA:284289
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized myoclonic seizure, Cerebral atrophy, EEG with burst suppression, ... OMIM:612164
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Cerebral atrophy, Tetraparesis, Inability to walk, Epileptic spasm... OMIM:617105
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Cerebral atrophy, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hype... OMIM:618497
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Infantile spasms, Dystonia, Athetosis OMIM:617132
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul... ORPHA:65684
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of... OMIM:183086
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Cerebellar hypoplasia, Hypertonia, Bila... OMIM:619302
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Seizure, Difficulty walking, Head titubation, Abnormal pyra... ORPHA:527497
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharg... OMIM:609056
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor aprax... OMIM:618060
Episodic Ataxia, Type 6
Cerebellar atrophy, Seizure, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Tru... OMIM:612656
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:203740
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Developmental And Epileptic Encephalopathy 103
Continuous spike and waves during slow sleep, Myoclonic seizure, Atonic seizure, Generalized non-... OMIM:619913
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure,... OMIM:612621
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t... OMIM:617013
Developmental And Epileptic Encephalopathy 13
Cerebral atrophy, Generalized non-motor (absence) seizure, Febrile seizure (within the age range ... OMIM:614558
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Foca... OMIM:620145
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Frequent... OMIM:159950
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Seizure, Tremor, Rigidity... OMIM:603472
4H Leukodystrophy
Cerebellar atrophy, Seizure, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Pro... ORPHA:289494
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Phenylketonuria
Seizure, Tremor, Lower limb spasticity, EEG abnormality, Ataxia ORPHA:716
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spas... OMIM:604391
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... OMIM:215470
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus... ORPHA:363654
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Ataxia OMIM:300983
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Limb dystonia,... ORPHA:508093
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity, Atroph... ORPHA:139480
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B... ORPHA:306669
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Ataxia OMIM:616781
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... ORPHA:157941
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb hypertonia, Lower l... OMIM:607259
Mitochondrial Dna Depletion Syndrome 17
Epilepsia partialis continua, Cerebellar atrophy, Cerebral atrophy, Seizure, Chorea, Status epile... OMIM:618567
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia OMIM:278780
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617915
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Dystonia, Spastic diplegia OMIM:619065
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Decreased motor nerve conduct... OMIM:270550
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... ORPHA:101071
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, Tremor, Babinsk... OMIM:609260
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Gait ataxia, Myoclonus, Dysmetria, Tremor, EEG w... ORPHA:254881
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Global brain atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clon... OMIM:618470
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617507
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:477673
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Seizure, Inability to walk, Myoclonus, Gait ataxia, ... OMIM:618877
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral ton... OMIM:615859
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic paraparesis, Cereb... ORPHA:329308
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Hsd10 Disease
Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Myoclonus, Tremor, Rigidity, Gait ... ORPHA:391417
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Distal sensory im... OMIM:612674
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer... ORPHA:98760
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Nocturnal seizures,... OMIM:619725
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Cerebral atrophy, Seizure, Difficulty walking, Abnormality of ... ORPHA:442835
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia OMIM:619556
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Developmental And Epileptic Encephalopathy 65
Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, EEG with burst suppression, Hypsarrhyt... OMIM:618008
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Myoclonus, Babinsk... OMIM:620538
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor... OMIM:607454
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Generalized dystonia, Hemiplegia, Cerebellar hypoplasia, Hypertonia, Ataxia, Mu... OMIM:272300
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Paraparesi... ORPHA:99014
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Babinski sign,... OMIM:618868
Familial Paroxysmal Ataxia
Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia ORPHA:97
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilepticus, Intent... OMIM:614307
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Focal-onset seizur... OMIM:619092
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Severe Neonatal-Onset Encephalopathy With Microcephaly
Involuntary movements, Spasticity, Cerebral atrophy, Seizure, EEG with focal slow activity, Bilat... ORPHA:209370
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Cerebral cortical atrophy, Generalized non-motor (absence) seizure... ORPHA:485350
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Caribbean Parkinsonism
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... ORPHA:97355
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy of the spinal cord, Atr... ORPHA:445062
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Infantile spasms, Cerebellar hypoplasia, Tonic seizure, Limb hypertonia, Bi... OMIM:620028
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness,... ORPHA:98768
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Seizure, Abnormal cerebellum morphology, Gait ataxia, Dys... OMIM:618056
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Generalized dystonia, Seizure, Inabil... OMIM:312080
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Aplasia/Hy... ORPHA:1192
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... ORPHA:1942
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Tremor, Spastic tetraparesis OMIM:619470
Dentatorubral Pallidoluysian Atrophy