banner
Genes Phenotypes Help, News, Blog

Gene: Cacna2d2 MGI:1929813

Log in to follow

Gene Summary

Name:
calcium channel, voltage-dependent, alpha 2/delta subunit 2
Synonyms:
a2d2

Order Alleles

IMPC Data Collections

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
enlarged testis Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
female infertility Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
increased lean body mass Cacna2d2em1(IMPC)Mbp HET Early adult 6.06×10-06
abnormal vitreous body morphology Cacna2d2em1(IMPC)Mbp HET Early adult 8.36×10-06
abnormal skin morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Cacna2d2em1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
decreased total body fat amount Cacna2d2em1(IMPC)Mbp HET Early adult 4.92×10-05
abnormal kidney morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Cacna2d2em1(IMPC)Mbp HET E18.5 0.00
increased spleen weight Cacna2d2em1(IMPC)Mbp HET Early adult 4.99×10-05
small kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Cacna2d2em1(IMPC)Mbp HET Early adult 2.26×10-07
cataract Cacna2d2em1(IMPC)Mbp HET Early adult 9.95×10-06
tremors Cacna2d2em1(IMPC)Mbp HOM Early adult 3.15×10-06
abnormal testis morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
small heart Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal placenta morphology Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
abnormal spleen morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal gait Cacna2d2em1(IMPC)Mbp HOM Early adult 3.15×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

44 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

7 Images

View images

Human diseases caused by Cacna2d2 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 Cacna2d2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501

The table below shows human diseases predicted to be associated to Cacna2d2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, EEG abnormalit... OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... OMIM:618587
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... OMIM:617665
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:607208
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... OMIM:614018
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure,... OMIM:620540
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Seizure, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Low... ORPHA:98811
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Myoclonic seizure, Atypical absence seizure, Multifocal epileptiform d... OMIM:618596
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... ORPHA:98818
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Impaired propri... ORPHA:95434
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m... OMIM:162350
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Myoclonus, Familial, 2
Dystonia, Limb myoclonus, Seizure OMIM:618364
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Tonic seizure, Hypsarr... OMIM:616346
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth... OMIM:616409
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella... ORPHA:101070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Dysphagia, Tip-toe ga... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor OMIM:615127
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... OMIM:619157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Seizure, EEG with generalized polyspikes, Ataxia, Generalized myoclonic seizure OMIM:614706
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ... OMIM:616230
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Attention deficit... OMIM:619971
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, EEG... OMIM:271980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... OMIM:617113
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe... OMIM:615957
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Seizure, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Hypoplasia of the pons, Generalized-onset seizure, Infantile spasms, Cerebella... OMIM:618677
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Abnormal cerebellum morp... OMIM:618242
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... OMIM:617771
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Lennox-Gastaut Syndrome
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... ORPHA:2382
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... OMIM:602066
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:610003
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hem... OMIM:616981
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure... OMIM:619606
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... ORPHA:599373
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Aminoacylase 1 Deficiency
Wide nasal bridge, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Hype... OMIM:609924
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Gait ataxia, My... ORPHA:248111
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Geniospasm 1
Chin myoclonus OMIM:190100
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... OMIM:619028
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Hand muscle atrophy, Distal sensory impairment, Motor ax... ORPHA:98856
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia OMIM:617018
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Recurrent upper respiratory tract infections, Generalized myoclonic s... ORPHA:352596
Olivopontocerebellar Atrophy-Deafness Syndrome
Seizure, Olivopontocerebellar atrophy, EEG abnormality, Hypertonia, Ataxia ORPHA:2732
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo... OMIM:616540
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Impai... OMIM:619742
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Myoclonic seizure, Cerebellar atrophy, Oculogyric crisis, Se... OMIM:614254
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Slender build, Myoclonus, Aggressive behavior, Frontal cortical... OMIM:300699
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Myoclonus, Gait ataxia, Cogwheel rigidity, Trun... OMIM:607346
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, EEG abnormality... OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Tremor OMIM:613608
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to walk, Epileptic spasm,... OMIM:617929
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Bruxism, Anteve... OMIM:618497
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Ataxia OMIM:619191
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... OMIM:208920
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight l... ORPHA:399
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Lingual dyston... OMIM:500003
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal impaired awareness seizure, Seizure, Chorea, Complex febrile seizure... ORPHA:31709
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Myo... OMIM:225753
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Spasticity, Small for gestational age, Seizure, Intrauterine growth re... OMIM:617065
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Failure to thrive, Intrauter... OMIM:620145
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Seizure, Progressive spastic paraparesis, F... ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia, Polyhydramnios OMIM:619303
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... OMIM:617711
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp... OMIM:614487
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Cerebral atrophy, Concentric hypertrophic cardiomyopathy, Abnormal cerebellum morphology... OMIM:204200
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Lethargy, Ataxia, Dystonia OMIM:617829
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
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
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Myoclonus, Gait ataxia, Hemipar... OMIM:123400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S... OMIM:619065
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Coenzyme Q10 Deficiency, Primary, 7
Seizure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cerebellar hypoplasia, Bra... OMIM:616276
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang... ORPHA:263516
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... OMIM:604484
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, Ataxia, Dys... ORPHA:71277
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensat... ORPHA:99947
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Increased extraneuronal autofluorescent lipopigment... OMIM:204500
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Ce... ORPHA:313772
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Seizure, Cardiomyopathy, Splenomegaly, Pancreatitis, Neutropenia, Anorexia, An... ORPHA:79312
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Seizure, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia OMIM:614023
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-on... ORPHA:561854
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slow activ... ORPHA:168491
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Delayed CNS myelination,... OMIM:619031
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Developmental And Epileptic Encephalopathy 23
Broad nasal tip, Hypoplasia of the pons, Bulbous nose, Anteverted nares, Infantile spasms, Myoclo... OMIM:615859
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Generalized non-motor (absence) seizure, Inability to walk, Infantile spa... ORPHA:411986
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait ataxia, ... ORPHA:101150
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Developmental And Epileptic Encephalopathy 69
Cerebral cortical atrophy, Inability to walk, Myoclonus, Hyperkinetic movements, Corpus callosum ... OMIM:618285
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Failure to thrive, Cerebral atrophy, Generalized dystonia, Hypertrophic cardiomyopath... OMIM:618235
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... ORPHA:1942
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Cerebral atrophy, Seizure, Myoclonus, Ataxia, Short stature OMIM:612015
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Seizure, Intrauterine growth retardation, Hypertonia, Brady... OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:618224
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick sinus syndrom... OMIM:617182
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... ORPHA:251347
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurr... OMIM:617862
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, F... OMIM:117360
Pontocerebellar Hypoplasia Type 4
Seizure, Myoclonus, Hypertonia, Polyhydramnios, Olivopontocerebellar hypoplasia ORPHA:166063
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Opisthotonus, Neutropenia, Ataxia, Choreoathetosis, Cerebral atrophy, Bulbous nose, H... OMIM:616271
Hsd10 Disease
Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Postnatal growth retardation, Myoc... ORPHA:391417
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Cerebellar atrophy, Failure to thrive, Seizure, Prominent nasal bridge, Myoclo... OMIM:618356
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... ORPHA:3006
Combined Saposin Deficiency
Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Generalized cloni... OMIM:611721
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Fasciculations, Ankle clonus, Hoffmann sign, Babinski sign, Lower limb spasticity, Sp... OMIM:615681
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Small pituit... OMIM:615925
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... OMIM:619616
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Intellectual Developmental Disorder, X-Linked 72
Short stature, Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilep... OMIM:609056
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Distal lower limb amyot... ORPHA:1175
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Seizure, Foot dorsiflexor weakn... OMIM:617207
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Failure to thrive, Seizure, Ascites, Hypertrophic cardiomyopathy, Intrauterine growth... OMIM:614702
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Myoclonus, Gait ataxia, Cogwheel rigidity, Rigidity,... ORPHA:225154
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Seizure, Cerebral atrophy, Opis... OMIM:619272
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... ORPHA:35878
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantil... ORPHA:485350
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere... OMIM:614255
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At... ORPHA:363717
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Splenomegaly, Bilateral tonic-clonic seizure ORPHA:139406
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic seizure, Short nose, Status epilepticus, Edema OMIM:617507
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic se... OMIM:615338
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Seizure, Inability to walk, Hypertrophic cardiomyopathy, Myoclonus, Rigidity,... OMIM:618241
Transient Neonatal Diabetes Mellitus
Failure to thrive, Seizure, Maturity-onset diabetes of the young, Intrauterine growth retardation... ORPHA:99886
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia, Facial ... OMIM:616286
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Infantile spasms, Tonic seizure, Unsteady gait, Focal impaired awareness seizure OMIM:617601
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Seizure, Syncope, Ventricular tachycardia, Bradycardia, Polymorphic ventricular tachycardia OMIM:611938
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Cerebellar atroph... ORPHA:98761
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisis, Generalize... ORPHA:208447
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... ORPHA:3095
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Pachygyria OMIM:606053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Morning myoclonic jerks, Bradycardia ORPHA:2898
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Seizure, Reduced social reciprocity, Hypertonia, Slurred speech OMIM:618103
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Prominent nose, Cerebellar hypoplasia, Bradycardia, Tr... OMIM:614407
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk... ORPHA:251282
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Myoclo... ORPHA:508093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress... OMIM:183090
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... OMIM:604326
Liang-Wang Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, Ataxia, Dystonia, Status epilepticus OMIM:618729
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Nocturnal seizures,... OMIM:619725
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Spasticity, Involuntary movements, Cerebellar atrophy, Cerebral atrophy,... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Cerebellar edema, Tonic seizure, Bilateral tonic-clonic seizure, Status... OMIM:618924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Tetraparesis, Cardiomyopathy, Leukopenia, Macrocytic anemia, Paraparesis, Pancreatitis, ... ORPHA:27
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Cerebellar hypoplasia, EEG with focal spikes, Seizure, Ataxia OMIM:616917
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (withi... OMIM:618917
Dystonia 12
Depression, Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Seizure, Hypersplenism, Bilateral tonic-clonic seizure with focal ... OMIM:610539
Mannosidosis, Beta A, Lysosomal
Decreased circulating beta-mannosidase activity, Seizure, Reduced beta-mannosidase activity in cu... OMIM:248510
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walk... ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia OMIM:610951
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Seizure, Hyperactivity, Ataxia OMIM:613402
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Cerebral atrophy, Aspiration pneumonia, Intrauterine growth retardation, My... OMIM:619057
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ... ORPHA:420492
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi... OMIM:159950
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... OMIM:617904
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Parkinsonism, ... ORPHA:909
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617173
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Global brain atrophy, Growth delay, Infantile spasms, Focal-onset ... OMIM:308350
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Generalized non-motor (absence) seizure, St... ORPHA:467166
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... OMIM:608984
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... OMIM:610245
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Seizure, Cerebral atrophy, Difficulty walki... ORPHA:442835
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Alexander Disease
Spasticity, Seizure, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Ataxia, Palat... OMIM:203450
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... ORPHA:101109
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea... OMIM:617600
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Seizure, Myoclonus, Hypertonia, Anemia, Unsteady gait OMIM:610090
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto... ORPHA:13
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Harel-Yoon Syndrome
Spasticity, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inability to walk, Ataxi... OMIM:617183
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Abnormal sensory ne... ORPHA:88628
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Lethargy OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Hemiparesis OMIM:617900
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Seizure, Weight loss, Anorexia, Diabetes insipidus, Dehydration ORPHA:178029
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Noc... ORPHA:98820
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Hyperinsulinemia, M... ORPHA:363400
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski s... OMIM:600795
Huntington Disease-Like 2
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Apathy, Inertia, Dystonia OMIM:606438
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... OMIM:600363
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... OMIM:617106
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal ons... OMIM:245570
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, ... ORPHA:216873
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Brain atrophy, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Bil... OMIM:619092
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Bradycardia, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myo... OMIM:614498
Myoclonus, Intractable, Neonatal
Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure, Dandy-Wal... OMIM:617235
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Kufor-Rakeb Syndrome
Spasticity, Distal sensory impairment, Parkinsonism, Paraparesis, Torticollis, Ataxia, Bradykines... OMIM:606693
D-Glyceric Aciduria
Cerebral cortical atrophy, Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Focal clo... OMIM:220120
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Hypogonadism, Myoclonus, Tremor, Hypertension, Aggressive beh... ORPHA:97229
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Lymphedema, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/... ORPHA:79279
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness,... ORPHA:98768
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Focal impaired awareness seizure, Seizure, Infantile spasms, EEG wi... ORPHA:95232
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus, Seizure OMIM:610992
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Epileptic spasm, Prominent nasal bridge,... OMIM:619060
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ky... OMIM:604168
Developmental And Epileptic Encephalopathy 28
Spasticity, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic spa... OMIM:616211
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Demyelinating perip... ORPHA:99948
Combined Malonic And Methylmalonic Aciduria
Generalized clonic seizure, Failure to thrive, Dehydration OMIM:614265
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait ORPHA:306511
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Infantile... OMIM:615851
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Spasticity, Seizure, Inability to walk, Reduced social reciprocity, EEG ab...