Gene Summary

Name:
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms:
Cacnl1a4,  alpha1A,  Ccha1a,  SCA6,  nmf352,  smrl

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
preweaning lethality, incomplete penetrance Cacna1aem1(IMPC)H 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.

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Cacna1a 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 Cacna1a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cacna1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark, Babinski sign OMIM:608984
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Unsteady gait, Distal sensory impairment OMIM:617017
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Ce... OMIM:607208
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
X-Linked Spastic Paraplegia Type 34
Ankle clonus, Lower limb spasticity, Impaired vibration sensation in the lower limbs, Babinski si... ORPHA:171607
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebral atrophy, Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic s... OMIM:611726
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Inability to walk, Difficulty walking, Scissor gait, Spasticity OMIM:615685
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... ORPHA:98811
Mental Retardation, Autosomal Recessive 63
Inability to walk, Generalized myoclonic seizure, Spasticity OMIM:618095
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Spastic Ataxia With Congenital Miosis
Seizure, Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Ceroid Lipofuscinosis, Neuronal, 11
Seizure, Cerebellar atrophy, Ataxia, Generalized myoclonic seizure OMIM:614706
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure OMIM:609446
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Myoclonic absence seizure, Arnold-Chiari type I malformation, Ataxia, Bilateral... OMIM:617836
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure, Cerebellar atrophy, Increased neuro... OMIM:610003
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Intention tremor, R... OMIM:618876
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, ... ORPHA:163727
Neuhauser-Eichner-Opitz Syndrome
Hypotonia, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Paine Syndrome
Olivopontocerebellar hypoplasia, Spastic diplegia, Cerebellar hypoplasia, Generalized myoclonic s... OMIM:311400
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Abnormal cerebellum morpholo... OMIM:618242
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Cerebral atrophy, Ankle clonus, Lower limb spasticity, Sp... OMIM:611252
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Limb ata... OMIM:617350
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Cerebellar atrophy, Dysmetria, Hyperactivit... OMIM:618090
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:79137
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Ataxia, Seizure, Unsteady gait, Cerebellar atrophy OMIM:615705
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Cerebellar... OMIM:616948
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Seizure, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Mitochondrial Complex I Deficiency, Nuclear Type 12
Abnormality of extrapyramidal motor function, Choreoathetosis, Cerebellar atrophy, Generalized my... OMIM:301020
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Abnorm... OMIM:615362
Angelman syndrome (Type 2)
Seizure, Truncal ataxia DECIPHER:54
Angelman syndrome (Type 1)
Seizure, Truncal ataxia DECIPHER:4
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Interictal epileptiform activity, Focal hem... ORPHA:725
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Intention t... ORPHA:94122
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Leukodystrophy, Hypomyelinating, 11
Tremor, Cerebellar atrophy, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Cerebellar hypoplasia, Ataxia, EEG abnormality, Spastic tetraplegia OMIM:618174
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Mental Retardation, Autosomal Recessive 53
EEG with focal spikes, Cerebral atrophy, Cerebellar hypoplasia, Ataxia OMIM:616917
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Seizure, Cerebellar atrophy... OMIM:616981
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor OMIM:300905
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Spasticity OMIM:613925
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Seizure, Ataxia, Spasticity OMIM:604004
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Generalized hypotonia, Ataxia OMIM:618384
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Atonic seizure, Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Ce... ORPHA:101070
Mental Retardation, Autosomal Recessive 6
Dystonia, Tremor, Seizure, Myoclonus, Involuntary movements OMIM:611092
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Megalencephaly With Dysmyelination
Seizure, EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Cerebellar atrophy OMIM:141500
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, EEG abnormality, Attention deficit hypera... OMIM:617665
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degen... OMIM:617862
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic seizure, Myoclonic absence seizure, Atypical absenc... OMIM:618596
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Focal-onset seizure, Chorea, Hyperkinetic movements, Myoclonic absen... OMIM:619317
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluor... OMIM:256731
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria OMIM:607458
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bilateral tonic-clonic seizure, Bradykinesia, Action... OMIM:300423
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Seizure, Generalized non-motor (absence) seizure, Athetosis, Generalized myoclo... OMIM:618141
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Spastic gait, Lower limb spasticity, Cerebellar atrophy... OMIM:610357
Spastic Paraplegia 62, Autosomal Recessive
Difficulty walking, Lower limb spasticity, Spastic gait, Abnormal cerebellum morphology, Babinski... OMIM:615681
Isolated Cerebellar Agenesis
Seizure, Hypertonia, Ataxia ORPHA:1398
Nondisjunction
Decreased fertility OMIM:158250
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Microcephaly, Seizures, And Developmental Delay
Seizure, Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Spasticity, Ataxia, Seizure, EEG abnormality, Hypotonia OMIM:619228
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Seizure, Cerebellar atrophy, Spastic tetraparesis, Brain atrophy OMIM:618741
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, In... OMIM:162350
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, EEG abnormality, Myoc... OMIM:617829
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Chorea, Seizure, EEG abnormality, Spasticity OMIM:613970
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Epilepsy, Nocturnal Frontal Lobe, 4
Seizure, Dystonia OMIM:610353
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Cerebe... ORPHA:497764
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait, Babinski sign ORPHA:320411
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Difficulty walking, P... ORPHA:512260
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent falls, Spasti... OMIM:618438
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Seizure, Progressive choreoathetosis, Rigidity OMIM:118750
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Lower limb spasticity, Imp... OMIM:619028
Huntington Disease
Gait ataxia, Chorea, Bradykinesia, Seizure, Cerebellar atrophy, Rigidity, Neuronal loss in centra... OMIM:143100
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Cerebral atrophy, Seizure, Lower limb spasticity, Cereb... OMIM:618468
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Spastic gait, Lower limb spastic... OMIM:607565
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, Generalized myoclonic seizure OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Cerebral atrophy, Seizure, Bilateral tonic-clonic seizure with generalized onset, Cer... OMIM:618730
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Muscular hypoto... OMIM:617013
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Increased neuron... OMIM:204300
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Apraxia, Ataxia ORPHA:85338
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Dravet Syndrome
Global brain atrophy, Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemic... ORPHA:33069
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia OMIM:612390
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Nescav Syndrome
Inability to walk, Cerebral atrophy, Seizure, Cerebellar atrophy, Cerebellar vermis atrophy, Babi... OMIM:614255
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Cerebellar atrophy, Ton... OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, ... OMIM:611390
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebral atrophy, Seizure, Cerebellar atrophy, Spastic tetraplegia, Clonus OMIM:613811
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment... ORPHA:101111
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypotonia, Hypsarrhythmia, Chorea, Seizure, Spasticity OMIM:616139
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involunta... ORPHA:98810
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Shuffli... OMIM:615528
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Progressive cerebellar ataxia, Cere... ORPHA:314603
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia OMIM:617584
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Chor... OMIM:125370
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetr... OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Cerebral atrophy, Spasticity, Seizure, Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons OMIM:618973
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Maple Syrup Urine Disease
Seizure, Hemiplegia/hemiparesis, Ataxia ORPHA:511
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... OMIM:612020
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Muscular hypotonia of the trunk, Bradykinesia, Limb ... OMIM:617384
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spastic tetraparesis, Seizure, Cerebellar atrophy, Progressive spastic paraparesis ORPHA:496756
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function,... OMIM:615159
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue f... OMIM:618170
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Spasticity, Oculomotor apraxia... OMIM:614487
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Focal-onset seizure, Chorea, Poor coordination, Paroxysmal dyskinesia, Ataxia, Muscular... OMIM:619150
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:178469
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Infantile axial hypotonia, Progre... ORPHA:521406
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, Cerebral cortical atrophy, EEG abnormality, Olivopontocerebellar atrophy ORPHA:2732
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Cere... ORPHA:248111
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Ceroid Lipofuscinosis, Neuronal, 9
Cerebral atrophy, Ataxia, Seizure, Progressive inability to walk, Rigidity OMIM:609055
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Seizure, Cerebellar atrop... OMIM:224050
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebral atrophy, Seizure, Cerebellar atrophy, Spasticity OMIM:617899
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Int... OMIM:617964
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Cerebellar edema, Bilateral tonic-clonic seizure, Seizure, Clonic seiz... OMIM:618924
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Seizure, Slurred speech, Gait ataxia, Cerebellar atrophy OMIM:619323
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Broad-based gait OMIM:601238
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Focal-onset seizure, Chorea, Muscular... OMIM:618760
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticol... ORPHA:71517
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Spinocerebellar Ataxia 25
Abolished vibration sense, Ataxia, Cerebellar atrophy, Babinski sign, Impaired pain sensation OMIM:608703
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Attention deficit hyperactivi... ORPHA:35878
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Diaminopentanuria
Seizure, Neurodegeneration, Ataxia, Spasticity OMIM:222350
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, EEG abnormality, Myoclonu... OMIM:606777
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Craniofacial dystonia, Laryngeal dystonia, Torticollis, ... OMIM:617284
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Global brain atrophy, Pain insensitivity, Ataxia, Seizure, Impaired vibration sens... ORPHA:94124
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Dystonia, Spastic ataxia OMIM:108600
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hypsarrhythmia, Hyperkinetic movements, Muscular hypotonia of the tr... OMIM:618285
Congenital Disorder Of Glycosylation, Type Iw
Seizure, Cerebellar atrophy OMIM:615596
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Cerebellar hypoplasia, Generalized-onset seizure, Myoclonic seizure, Spastic tetraple... OMIM:618677
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Seizure, Cerebellar atrophy, Spastic tetraplegia, Spasticity OMIM:617207
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spinocerebellar Ataxia Type 28
Dystonia, Gait ataxia, Kinetic tremor, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epilepticus, Seizure, Central... ORPHA:71277
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Brain... ORPHA:83472
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Generalized non-motor (absence... OMIM:613839
Spinocerebellar Ataxia Type 11
Dystonia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance ORPHA:98767
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Autosomal Recessive Spastic Paraplegia Type 27
Dysdiadochokinesis, Spastic paraplegia, Impaired vibration sensation at ankles, Babinski sign, Ab... ORPHA:101007
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Muscular hypotonia of the trunk, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Dysequilibrium Syndrome
Seizure, Gait disturbance, Cerebral palsy, Ataxia ORPHA:1766
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy... OMIM:618093
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Somatic sensory dysfu... ORPHA:90117
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... ORPHA:640
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal motor function, Abnormal... OMIM:618224
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Atrophy of the spinal cord, Lower limb spasticity, Cerebellar at... ORPHA:139480
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Seizure, Cerebellar atrophy, Ataxia OMIM:618879
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Aminoacylase 1 Deficiency
Seizure, Cerebellar atrophy, Cerebral atrophy, Hyperactivity OMIM:609924
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized n... ORPHA:485350
Episodic Ataxia Type 6
Hemiplegia, Slurred speech, Ataxia, Seizure, Cerebellar atrophy ORPHA:209967
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Paroxysmal choreoathetosis, Normal interictal EEG, Gene... OMIM:602066
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Seizure, Increased... OMIM:204500
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia, Babinski sign ORPHA:306741
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Difficult... ORPHA:98772
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Autism, Susceptibility To, X-Linked 3
Seizure, EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Seizure, EEG abnormality, Stereotypy OMIM:300425
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Aplasia/Hypo... ORPHA:401820
Autism
Seizure, EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Seizure, EEG abnormality, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Stereotypy OMIM:608636
Liang-Wang Syndrome
Dystonia, Cerebral atrophy, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, ... OMIM:618729
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Abnormal pyramidal sign, Head titubati... OMIM:617560
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Ataxia, Status epilepticus, Cerebellar atrophy, Increased neuronal autofluoresc... OMIM:610127
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Spasticity OMIM:614458
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spasticity, Oculomotor apraxia, Ataxia, Bilate... ORPHA:313772
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Familial Infantile Myoclonic Epilepsy
Clumsiness, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clonic seizure,... ORPHA:352582
Partington Syndrome
Seizure, Lower limb spasticity, EEG abnormality, Focal dystonia, Limb dystonia, Infantile spasms OMIM:309510
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Genera... OMIM:616341
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Tetraparesis, Ataxia, Status epilepticus, Seizure, Spastic tetraplegia, Infantile muscu... ORPHA:263410
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Seizure, Dystonia, Generalized hypotonia OMIM:616763
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:208447
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Ataxia OMIM:616113
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Experiential epileptic aura, Focal-onset seizure, Chorea, Paroxysmal d... ORPHA:31709
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Seizure, Oculogyric crisis, EEG abno... OMIM:614254
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Cerebral cortical atrophy, Parkinsonism, Involuntary movement... ORPHA:98934
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Involuntary movements, Athetosis ORPHA:98809
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk, Generalized myoclonic seizure OMIM:251280
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Spinocerebellar Ataxia Type 10