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Gene: Cacna1a MGI:109482

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Lateral Orientation

9 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure OMIM:141500
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Familial Paroxysmal Ataxia
Torticollis, Hemiplegia, Ataxia, Cerebellar vermis atrophy, Dystonia ORPHA:97
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Athetosis, Tremor, Seizure OMIM:617106
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:183086
Episodic Ataxia, Type 2
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia OMIM:108500
Spinocerebellar Ataxia Type 6
Progressive cerebellar ataxia, Blepharospasm, Intention tremor, Babinski sign, Gait ataxia, Unste... ORPHA:98758
Familial Or Sporadic Hemiplegic Migraine
Status epilepticus, Focal motor seizure, Hemiplegia, Spontaneous pain sensation, Alien limb pheno... ORPHA:569
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia ORPHA:71518
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Failure to thrive, Ataxia, Limb hypertonia, Generalized hypotonia, Rigidity, ... ORPHA:442835
Alternating Hemiplegia Of Childhood
Status epilepticus, Focal motor seizure, Ataxia, Failure to thrive, Oculomotor apraxia, Abnormal ... ORPHA:2131

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
Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark OMIM:608984
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... ORPHA:329466
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
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
Torticollis, Lingual dystonia, Laryngeal dystonia, 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
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
X-Linked Spastic Paraplegia Type 34
Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... ORPHA:171607
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... OMIM:600143
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia OMIM:619681
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity OMIM:615685
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... ORPHA:139426
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... OMIM:614018
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure ORPHA:1182
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, I... OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy, Seizure OMIM:614706
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Dystonia 33
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia OMIM:619687
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia ORPHA:2672
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... OMIM:618876
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... OMIM:611252
Paine Syndrome
Spastic diplegia, Olivopontocerebellar hypoplasia, Cerebellar hypoplasia, Generalized myoclonic s... OMIM:311400
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficulty walking, Spasticity, Generalize... OMIM:618242
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generalized dystonia OMIM:128101
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Limb ataxia, A... OMIM:617350
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, B... OMIM:617810
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... OMIM:616948
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence... ORPHA:79137
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure OMIM:615705
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Angelman syndrome (Type 2)
Truncal ataxia, Seizure DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, Seizure DECIPHER:4
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... ORPHA:36387
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar ... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Athetosis, Gait disturbance, Generalized non-motor (absence) seizu... OMIM:618141
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, Seizure OMIM:617643
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... ORPHA:306
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... OMIM:617665
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy OMIM:617917
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, EEG abnormality, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia OMIM:618174
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... OMIM:610245
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... OMIM:615369
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... OMIM:616053
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, EEG with parietal foc... ORPHA:163727
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Inability to walk... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Cer... OMIM:301020
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... OMIM:616409
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Generalized hypotonia, Dystonia OMIM:617020
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Ataxia, Spasticity, Seizure OMIM:604004
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Developmental And Epileptic Encephalopathy 19
Status epilepticus, EEG with photoparoxysmal response, Atonic seizure, Focal hemiclonic seizure, ... OMIM:615744
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... ORPHA:423275
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity, Seizure, Hypotonia OMIM:619228
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral ton... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia OMIM:617054
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity, Seizure OMIM:249240
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... ORPHA:101070
Dystonia 30
Torticollis, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Writer's cramp, Dystonia, ... OMIM:619291
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure OMIM:141500
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Gordon Holmes Syndrome
Ataxia, Cerebral atrophy, Cerebellar atrophy OMIM:212840
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Tonic seizure, Bilateral tonic-clonic... OMIM:614558
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure OMIM:208700
Primary Dystonia, Dyt21 Type
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... ORPHA:306734
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure, Multifocal epileptiform d... OMIM:618596
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... ORPHA:86909
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Cerebral atrophy, Action tremor, Poor fine ... ORPHA:98762
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Cerebral atrophy, Cerebellar atrophy, Seizure, Upper limb spasticity, Lower l... OMIM:613925
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy OMIM:607458
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neuronal autofluorescent ... OMIM:256731
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Brain atrophy, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... ORPHA:101112
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... OMIM:615159
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Seizure ORPHA:1398
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Primary Dystonia, Dyt6 Type
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Craniofacial dystonia, Limb dys... ORPHA:98806
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Nondisjunction
Decreased fertility OMIM:158250
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy OMIM:617916
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... ORPHA:98818
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Cerebellar vermis atrophy, Cerebral atrophy, Multifocal seizures, Dysmetria, Intention tr... OMIM:618170
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Neurodegeneration With Brain Iron Accumulation
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Cerebellar atrophy, D... ORPHA:385
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, ... OMIM:616981
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Cerebellar atrophy... OMIM:619389
Intellectual Developmental Disorder, Autosomal Dominant 46
Focal impaired awareness seizure, Brain atrophy, Tonic seizure, Infantile spasms, Unsteady gait, ... OMIM:617601
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Brain atrophy, Cerebellar atrophy, Seizure OMIM:618741
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... OMIM:117360
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait ORPHA:284271
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Arm dyston... OMIM:619565
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619157
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... OMIM:616127
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia ORPHA:320411
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Distal sensory impairment,... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Developmental And Epileptic Encephalopathy 76
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Seizure, Upper limb spasticity, Lower li... OMIM:618468
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Cere... OMIM:619028
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Cerebral atrophy, Distal sensory impairment, Cerebellar atrophy, Seizure, Steppage gait OMIM:607250
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... OMIM:271980
Microcephaly, Seizures, And Developmental Delay
Ataxia, Cerebellar atrophy, Seizure OMIM:613402
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Huntington Disease
Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... OMIM:143100
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy OMIM:616267
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Neurodegeneration, Cerebellar atrophy OMIM:610951
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... OMIM:210000
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Spastic tetr... OMIM:618730
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... OMIM:604326
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Dystonia OMIM:615030
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia OMIM:125370
Lissencephaly 10
Torticollis, Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic se... OMIM:618873
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Difficulty walking, Rigidity, Dystonia, Sensory ataxia OMIM:619661
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Fal... OMIM:619150
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure OMIM:612016
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia, Seizure ORPHA:85338
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Pontocerebellar Hypoplasia, Type 2C
Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Dystonia, Chorea OMIM:612390
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, D... OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia Type 25
Abnormal cerebellar cortex morphology, Diffuse cerebellar atrophy, Progressive cerebellar ataxia,... ORPHA:101111
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Spastic Paraplegia 87, Autosomal Recessive
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia OMIM:619966
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:610743
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Nescav Syndrome
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Babinski sign, Spasticity, Cerebe... OMIM:614255
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... ORPHA:31709
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Chorea, Spastic tetraplegia, Cerebellar atrophy, Clonus, Seizure OMIM:613811
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia OMIM:613720
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:618369
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Maple Syrup Urine Disease
Ataxia, Hemiplegia/hemiparesis, Seizure ORPHA:511
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... OMIM:204300
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Progressive cerebellar ataxia, Spastic ataxia, Dysmetria, Cerebellar h... ORPHA:314603
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure OMIM:118750
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Tremor, Kinetic tremor OMIM:611808
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Seizure OMIM:615596
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:615386
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Spastic paraparesis, Complex febrile seizure, Bilateral tonic-clonic seizure... OMIM:619338
Spinocerebellar Ataxia 49
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... OMIM:619806
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebellar atrophy, Seizure OMIM:618973
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebral atrophy, Myoclonus, Limb myoclonus, Febrile seizure (with... ORPHA:263516
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, EEG abnormality, Cerebral cortical atrophy, Olivopontocerebellar atrophy ORPHA:2732
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia OMIM:614229
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... OMIM:612020
Ceroid Lipofuscinosis, Neuronal, 9
Loss of ambulation, Ataxia, Cerebral atrophy, Rigidity, Seizure OMIM:609055
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Cerebral atrophy, Tonic seizure, Stereotypic... OMIM:618917
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... OMIM:618760
Alternating Hemiplegia Of Childhood 2
Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... OMIM:614820
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Cerebellar atrophy, Seizure, Spastic tetraparesis, Spastic ataxia ORPHA:496756
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... OMIM:605361
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Gait ataxia OMIM:601238
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... OMIM:606183
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia ORPHA:2274
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... OMIM:224050
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Gait ataxia, Spasticity, Cerebellar atrophy... OMIM:611390
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... ORPHA:210571
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... OMIM:614487
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... OMIM:618088
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Slurred speech, Cerebellar atrophy, Seizure OMIM:619323
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... OMIM:608105
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia OMIM:619647
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia, Cerebral degeneration OMIM:260970
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... ORPHA:94124
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity, Seizure OMIM:222350
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Developmental And Epileptic Encephalopathy 69
Status epilepticus, EEG abnormality, Inability to walk, Myoclonus, Hyperkinetic movements, Spasti... OMIM:618285
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... ORPHA:1175
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Dystonia, Spastic ataxia OMIM:108600
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... OMIM:600224
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Myoclonic seizure, Epileptic spasm, Chorea, Bilateral tonic-clonic s... OMIM:616139
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure, Paroxysmal dystonia, Parox... OMIM:602066
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Hypoplasia of the pons, Tetraparesis, Global brain atrophy, Spasticity... OMIM:618276
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Generalized hypotonia, Parkinsonism, Craniofacial dyst... ORPHA:71517
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Head tremor, Parkinsonism, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... ORPHA:453521
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Ankle clonus, Babinski sign, Generalized-onset seizure, Spas... OMIM:616657
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Myoclonic seizure, Infantile spasms, Hypoplasia of the pons, Cerebellar hypoplasia, G... OMIM:618677
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, He... ORPHA:71277
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spastic tetraplegia, Spasticity, Cerebellar atrophy, Seizure OMIM:617207
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Generalized hypotonia, Spasticity, Cerebellar atrophy, Dystonia OMIM:617899
Camos Syndrome
Ataxia, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement ... ORPHA:83472
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Seizure ORPHA:1766
Epilepsy, Nocturnal Frontal Lobe, 4
Nocturnal seizures, Dystonia OMIM:610353
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:104290
Spinocerebellar Ataxia Type 11
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia ORPHA:98767
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Cerebellar hypoplasia, Atrophy/Degeneratio... OMIM:619971
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Ataxia, Cerebellar atrophy, Seizure OMIM:618879
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Tremor, Aplasia of the infe... OMIM:610185
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... OMIM:204500
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Respiratory insufficiency, Decreased motor nerve conduction velocity, Vocal cord par... ORPHA:640
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Aspiration pneumonia, Limb fasciculations, Distal... ORPHA:90117
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Atrophy of the spinal cord, Spastic paraplegia, Gait ataxia, Cerebellar atrophy, L... ORPHA:139480
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Cerebral atrophy, Cerebellar hypoplasia, Generalized non-motor (absence) seizure, Eyelid ... OMIM:613839
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Cerebellar edema, Bilateral tonic-clonic seizu... OMIM:618924
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Inability to walk, Spastic tetraplegia OMIM:618646
Spinocerebellar Ataxia 17
Broad-based gait, Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dys... OMIM:607136
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... OMIM:617672
Episodic Ataxia Type 6
Hemiplegia, Ataxia, Cerebellar atrophy, Seizure, Slurred speech ORPHA:209967
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... OMIM:606777
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic... OMIM:619616
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia OMIM:618501
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure OMIM:611631
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb spasticity, Spastic parapleg... OMIM:619686
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... ORPHA:401820
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Generalized hypotonia, Parkinsonism,... OMIM:617384
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myocl... ORPHA:485350
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Cln5 Disease
Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Ina... ORPHA:228360
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Status epilepticus, Ataxia, Infantile muscular hypotonia, Infantile spasms, Tetraparesis, Spastic... ORPHA:263410
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality, Seizure OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality, Seizure OMIM:300425
Autism
Motor stereotypy, EEG abnormality, Seizure OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality, Seizure OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality, Seizure OMIM:608636
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Spastic a... ORPHA:2572
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Respiratory distress, Generalized myoclonic seizure, Bilateral tonic-clonic sei... OMIM:616341
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic seizure, G... OMIM:618093
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:178469
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, Blepharospasm, General... ORPHA:352582
Hemidystonia-Hemiatrophy Syndrome
Abnormal pyramidal sign, Babinski sign, Hemiparesis, Limb dystonia, Seizure, Dystonia ORPHA:306741
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... OMIM:618418
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Head titubation, Spasticity, L... OMIM:617560
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Clumsiness, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:1947
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia OMIM:159900
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Hemiplegia, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Myoclo... ORPHA:352596
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
EEG abnormality, Inability to walk, Severe muscular hypotonia, Oculogyric crisis, Myoclonus, Hype... OMIM:614254
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Unsteady gait, Cerebellar atrophy OMIM:619405
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Progressive cerebellar ataxia, Seizure, Spastic tetraparesis, Dystonia ORPHA:67046
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Babinski sign, Dilated fourth ventricle, Frequent... OMIM:619054
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Seizure ORPHA:404493
Polyendocrine-Polyneuropathy Syndrome
Cerebellar hypoplasia, Ataxia, Dystonia OMIM:616113
Huntington Disease-Like 2