Gene: Cacna2d2 MGI:1929813

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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.

Phenotype associated images not available

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
Inability to walk, Gait ataxia, Chorea, Poor eye contact, Ataxia, Dysmetria OMIM:618501

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Arnold-Chiari type I malformation, Myoclonic absence seizure, Bradykinesia, Ata... OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Truncal ataxia, Gait ataxia, Chorea, Atonic seizure, Absen... OMIM:618587
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Interictal epileptiform activity, Focal hem... ORPHA:725
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Ataxia, Interictal epileptiform activity, EEG with polyspike wave ... OMIM:254800
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... ORPHA:98811
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Seizure, Myoclonus OMIM:611092
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, At... OMIM:607208
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3... OMIM:609446
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, EEG w... OMIM:615369
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Angelman syndrome (Type 2)
Seizure, EEG abnormality, Truncal ataxia DECIPHER:54
Angelman syndrome (Type 1)
Seizure, EEG abnormality, Truncal ataxia DECIPHER:4
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Normal in... ORPHA:306
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia, Seizure ORPHA:1182
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, EEG with spike-wave complexes, Incoordination, Febrile seizure (within the age range of 3... ORPHA:36387
Dystonia 23
Axial dystonia, Arrhythmia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atro... OMIM:614860
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Cerebellar hypoplasia, Ataxia, Seizure, Spastic tetraplegia, EEG abnormality OMIM:618174
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic seizure, Myoclonic absence seizure, Atypical absenc... OMIM:618596
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Abnormal cerebellum morpholo... OMIM:618242
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Abnormal pyramidal si... OMIM:617350
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Abnorm... OMIM:615362
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... ORPHA:79137
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Feta... OMIM:125370
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Confusion, Myoclonus, Babinski sig... OMIM:606777
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Mental Retardation, Autosomal Recessive 53
Seizure, EEG with focal spikes, Cerebellar hypoplasia, Ataxia OMIM:616917
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Gait disturbance, Seizure, Generalized non-motor (absence) seizure, EEG abnormali... OMIM:618141
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Intention tremor, R... OMIM:618876
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, In... OMIM:162350
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Developmental And Epileptic Encephalopathy 57
Seizure, Atypical absence seizure, Generalized myoclonic seizure, Hypsarrhythmia OMIM:617771
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Megalencephaly With Dysmyelination
Seizure, Ataxia, EEG with photoparoxysmal response, Spasticity OMIM:249240
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Seiz... ORPHA:101070
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Toe walking, Decreased number of peripheral myelinated nerve fibers, Distal... OMIM:302800
Developmental And Epileptic Encephalopathy 40
Seizure, Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration, Short stature OMIM:609698
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Focal-onset seizure... OMIM:619317
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus, Generalized n... OMIM:271980
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Central sleep apnea, Clumsiness, Abnormality of ext... ORPHA:79262
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:619157
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Seizure, Cerebellar atrophy, EEG abnormality, Generalized myoclonic seizure OMIM:614706
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, EEG abnormality, Attention deficit hypera... OMIM:617665
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Seizure, Cerebellar atrophy... OMIM:616981
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Progress... OMIM:607346
Dravet Syndrome
Poor fine motor coordination, Photosensitive myoclonic seizure, Interictal epileptiform activity,... ORPHA:33069
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure OMIM:617831
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypsarrhythmia, Hypertonia, Cerebellar hypoplasia, Infantile spasms, Myoclonic seizure, Spastic t... OMIM:618677
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:601068
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Seizure, Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:204300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Bilateral tonic-clonic seizure, Cerebellar atrophy, EEG abnormality, Focal impaired a... OMIM:610003
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Spasticity OMIM:617829
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure ORPHA:86814
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Seizure, EEG abnormality, Ataxia, Spasticity OMIM:619228
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Cerebellar hypoplasia, Respiratory insufficiency, Seizure, Intrauterine growth retarda... OMIM:616276
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Periventricular Nodular Heterotopia 8
Seizure, Delayed myelination, Attention deficit hyperactivity disorder OMIM:618185
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Attention deficit hyperactivi... ORPHA:35878
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy, Hemiparesis OMIM:617900
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, EEG abnormality, Generalized-onset ... OMIM:615476
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Dysphagia, Ataxia, Br... OMIM:607136
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Dysphagia, Cerebral atrophy, Poor fine motor coordination, ... ORPHA:79263
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Glutathionuria
Tremor OMIM:231950
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluor... OMIM:256731
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Seizure, Progressive cerebellar ataxia, Cereb... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hypertonia, Cerebral atrophy, Respiratory insufficiency, Seizure, Cerebellar atrophy, I... OMIM:614654
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Scoliosis, Spinal muscular atrophy, Spastic ataxia, Spastic tetraparesis, Seizure, Iron accumulat... ORPHA:496756
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Gait ataxia, Myoclonus OMIM:616540
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Hypertonia, Cerebellar hypoplasia, Spasticity, Seizure, Loss of Purkinje cells in... OMIM:225753
Migraine, Familial Hemiplegic, 1
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness OMIM:141500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Limb ataxia, Oculomoto... OMIM:208920
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, EEG with generalized slow a... ORPHA:1942
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios, Respiratory failure requiring assisted ventilation, Cerebellar hypoplasia, Cerebe... OMIM:619303
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, R... ORPHA:352596
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Decreased nu... OMIM:604484
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure OMIM:545000
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, Seizure, EEG abnormality, Olivopontocerebellar atrophy ORPHA:2732
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure ORPHA:22
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Seizure, Myocl... OMIM:615924
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Ataxia, Respiratory insufficiency, Seizure, Wide nasal bridge, Ce... OMIM:618356
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Cerebellar atrophy, Lower ... OMIM:619028
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Inability to walk, Status epilepticus, Seizure, Delayed myelination OMIM:618331
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia OMIM:618224
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Abnormality of extrapyramidal motor function... OMIM:204200
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Respiratory insufficiency due to... OMIM:159950
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Confusion, Myocl... ORPHA:71277
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Myoclonus OMIM:608105
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Seizure, Increased... OMIM:204500
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Limb myoclonus, Myoclonus ORPHA:36899
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, EEG with general... ORPHA:3006
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Phosphoserine Phosphatase Deficiency
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Seizure, Intrauterine growth retardation OMIM:614023
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
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
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Dystonia, Growth delay, Cerebral atrophy, Hypertonia, Neutropenia, Seizure, Respir... OMIM:617248
Pontocerebellar Hypoplasia Type 4
Polyhydramnios, Hypertonia, Olivopontocerebellar hypoplasia, Respiratory failure requiring assist... ORPHA:166063
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy, Hemiparesis OMIM:613002
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Cerebral cortical atrophy, Spastic gait, Abnormal myelination, Lower limb spa... ORPHA:401820
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Generalized tonic seizure, Hypsarrhythmia, Atonic seizure, Multifocal epilepti... ORPHA:411986
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Dysphagia, Action tremor, Thrombocytopenia, Cerebellar atrophy, Myo... OMIM:254900
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Hypertonia, Bradycardia, Seizure, Babinski sign, Clonus, Myoclonic sp... OMIM:614498
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Myoclonic seizure, Hyperactivity, Spasticity, Cortical myoclonus, EEG with spike-... ORPHA:168491
Developmental And Epileptic Encephalopathy 1
Dystonia, Dyspnea, Global brain atrophy, Erratic myoclonus, Focal-onset seizure, Growth delay, Dy... OMIM:308350
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Ataxia, Myoclonus, Involuntary movements, Spasticity OMIM:617282
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Dysphagia, Spasticity, Oculomo... OMIM:614487
Mental Retardation, Autosomal Recessive 60
Delayed puberty, Delayed myelination, Short stature OMIM:617432
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Paroxysmal Non-Kinesigenic Dyskinesia
Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involuntary movemen... ORPHA:98810
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Abnormal cerebellum morphology, Myocl... OMIM:123400
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, My... ORPHA:726
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619191
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Cerebellar atrophy, Dysmetria, Hyperactivit... OMIM:618090
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atr... ORPHA:139485
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Distal amyotrophy, Impaire... OMIM:614436
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hypertonia, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Myoclonu... OMIM:618426
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Ste... OMIM:300912
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Ataxia, Postnatal growth reta... ORPHA:391417
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Scoliosis, Spinal muscular atrophy, Ataxia, Seizure, Cerebellar atrophy, Distal amyotrophy, Spast... OMIM:617207
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Dysphagia, Cerebellar hypoplasia, Spasticity, ... ORPHA:313772
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Cerebral atrophy, Hyperkinetic movements, Seizure, Myoclonus, Choreo... OMIM:618497
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy,... OMIM:619065
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Congenital Disorder Of Glycosylation, Type In
Ataxia, Respiratory insufficiency, Seizure, Myoclonus, Failure to thrive, Short stature, Spasticity OMIM:612015
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Hypergonadotropic hypogonadism, Chorea, Cerebellar ver... ORPHA:251347
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Seizure, Thrombocytopenia, Myoclonus, Anemia, Hepatosplenomegaly OMIM:610539
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Respiratory distress, Growth delay, Cerebral atrophy, Hypertonia, Pulmon... OMIM:619272
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Seizure, Proximal muscle weakness in upper... OMIM:618138
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Cln5 Disease
Clumsiness, Focal myoclonic seizure, Hyperactivity, EEG with focal spikes, Poor gross motor coord... ORPHA:228360
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Hand muscle weakness, Poor fine motor coordination, Triceps weakness, Distal lower lim... ORPHA:99947
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Progressive c... ORPHA:485350
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Apraxia, Ataxia ORPHA:85338
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Spinocerebellar tract degeneration, Progressive gait a... ORPHA:1175
Peho-Like Syndrome
Short nose, Status epilepticus, Seizure, Cerebellar atrophy, Edema, Myoclonus OMIM:617507
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Dysphagia, Spasticity, Seizure, Cerebral cortical atrophy, Myoclonus, Hypoplasia of the... OMIM:617669
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Paroxysmal choreoathetosis, Normal interictal EEG, Gene... OMIM:602066
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Generalized tonic seizure, Focal emotional seizure with laughing, Chorea, Eyelid myoclo... ORPHA:178469
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Combined Saposin Deficiency
Generalized clonic seizure, Hyperkinetic movements, Myoclonus, Babinski sign, Splenomegaly, Fasci... OMIM:611721
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Hypertonia, Respiratory insufficiency, Brain atrophy, Seizure, Myoclonus, Clonus OMIM:617290
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Huntington Disease
Decreased body mass index, Dystonia, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Myoclonic seizure, Optic atrophy, Bilateral... OMIM:611726
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Hyperkinetic movements, Status epilepticus,... OMIM:618285
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Hypoplasia of the brainstem, Flexion contracture, Seizure, Abnormal myelinatio... OMIM:618324
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Gait ataxia, Dystonia, Rigidity, Cogwheel rig... ORPHA:225154
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Failure to t... OMIM:609056
Bilateral Generalized Polymicrogyria
Dystonia, Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:208447
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Cerebral atrophy, Severe short stature, Neonatal respiratory distress, Small for ge... OMIM:619057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Respiratory distress, Neutropenia, Seizure, Thrombocytopenia, Dehydration, Sp... ORPHA:79312
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Intellectual Developmental Disorder With Cardiac Arrhythmia
Seizure, Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Nescav Syndrome
Inability to walk, Cerebral atrophy, Flexion contracture, Seizure, Cerebellar atrophy, Cerebellar... OMIM:614255
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Transient neonatal diabe... ORPHA:99886
Early Myoclonic Encephalopathy
Lethargy, Dysphagia, Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seizure with eyel... ORPHA:1935
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Respiratory insufficiency, Bilateral tonic-clonic seizure, Myoclonus, Splenomegaly ORPHA:139406
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Poor fine motor coordination, Sick sinus syndrome, Hyperactivity, Bradycardia, Attent... OMIM:617182
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Seizure, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Hyperkinetic movements, Seizure, Oculogyri... OMIM:614254
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Pe... OMIM:605285
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spinocerebellar tract degeneration, Spastic ataxia, Gait di... ORPHA:2572
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Hemiparesis, Seizure, Infantile spasms, Abnormal neuron morphology, Focal im... ORPHA:65683
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Generalized-onset seizure, Status epilepticus, P... ORPHA:98761
Foxg1 Syndrome
Inability to walk, Dystonia, Abnormal respiratory system physiology, Difficulty walking, Focal-on... ORPHA:561854
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Bradycardia, Morning myoclonic jerks ORPHA:2898
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar atrophy, Short stature, Stereotypy... OMIM:617862
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Respiratory insufficiency, Seizure, Thrombocytopenia... ORPHA:27
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Cerebellar hypoplasia, Ataxia OMIM:613839
Riboflavin Transporter Deficiency
Tremor, Sleep apnea, Dysphagia, Ataxia, Respiratory insufficiency, Seizure, Cerebral cortical atr... ORPHA:97229
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Leukodystrophy, Hypomyelinating, 18
Scoliosis, Progressive spasticity, Dystonia, Abnormal motor nerve conduction velocity, Flexion co... OMIM:618404
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Dysphagia, Oculom... OMIM:183090
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Dysphagia, Difficulty walking, Ataxia, Tongue fascicula... ORPHA:276198
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Growth delay, Cerebellar hypoplasia, Atrioventricular block, Failure to... OMIM:614407
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Spasticity, Generalized-onset seizure, Hypsarrhythmia OMIM:613722
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Paresthesia, EEG with focal epileptiform discharges, Hypsarrhythmia, ... ORPHA:98820
Liang-Wang Syndrome
Dystonia, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, Cerebellar atrophy OMIM:618729
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Microcephaly, Seizures, And Developmental Delay
Ataxia, Seizure, Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity OMIM:613402
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Paresthesia, Abnormality of extrapyramidal motor function, ... ORPHA:79279
Autosomal Spastic Paraplegia Type 58
Fasciculations, Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Cerebral atrophy,... ORPHA:397946
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, EEG with spike-wave complexes, Hypsarrhythmia, Atypical absence seizur... ORPHA:95232
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder OMIM:618221
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Poor motor coordination, Cerebral atrophy, Tetraparesis, A... ORPHA:363400
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Seizure, Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Cerebral atrophy, Paralysis, Cerebellar atrophy, Skeletal mus... OMIM:616286
Infantile Convulsions And Choreoathetosis
Dystonia, Complex febrile seizure, Experiential epileptic aura, Chorea, Paroxysmal dyskinesia, Fo... ORPHA:31709
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Seizure, Unsteady gait, Myoclonus, Failure to thrive, Anemia OMIM:610090
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Gait disturbance, Poor coordination, Myoclonic absence seizure, A... ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Spastic paraparesis, Spinoc... OMIM:312920
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Short stature, Slender build OMIM:300699
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Ataxia, Seizure, Unsteady gait, Cerebellar atrophy OMIM:615705
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Supraventricular arrhythmia, Head tremor, Difficulty walking, Craniofacial dyston... ORPHA:420492
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Cerebellar edema, Bilateral tonic-clonic seizure, Seizure, Clonic seiz... OMIM:618924
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Atypical Rett Syndrome
Pill-rolling tremor, Dystonia, Spasticity, Inability to walk, Apraxia, Sudden episodic apnea, Gai... ORPHA:3095
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Gait disturbance, K... ORPHA:88628
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Hypertension, Recurrent bronchiolitis, Dehydration, Edema, Failure to thrive, Recurrent ... OMIM:616069
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Scoliosis, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilatera... ORPHA:330050
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Global brain atrophy, Palatal myoclonus, Thoracic kyphosis, Abnormality of ext... ORPHA:909
Harel-Yoon Syndrome
Inability to walk, Ataxia, Generalized non-motor (absence) seizure, Cerebellar atrophy, Spasticity OMIM:617183
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Impaired vibration sens... OMIM:600363
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Rigidity OMIM:233910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Arrhythmia, Dysphagia, Gait disturbance, Cerebral atrophy, Seizure, Abnormality o... OMIM:609286
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Cerebral atrophy, ... OMIM:604168
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Inte... ORPHA:101046
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Short n... ORPHA:289266
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia, Hypertonia, Ataxia, Respiratory insufficiency, Seizure, Failure to th... ORPHA:1314
Developmental And Epileptic Encephalopathy 16
Dystonia, Abnormality of extrapyramidal motor function, Cerebral atrophy, Hemiparesis, Status epi... OMIM:615338
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Lipoyltransferase 1 Deficiency
Dystonia, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Cerebellar atrophy,... OMIM:616299
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebral atrophy, Decreased body weight, Cerebellar atrophy, Myoclonus, Short stature, Failure to... OMIM:619060
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Cerebral atrophy, Seizure, Thrombocytopenia, Cerebellar atrophy, Myoclonus, Anemia,... OMIM:614946
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Clumsiness, Poor motor coordination, Dysphagia, Cerebral atrophy, Poor fine motor coordina... ORPHA:79264
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Focal-onset seizure, Hypertonia, Ataxia, Brain a... OMIM:619092
Autosomal Recessive Spastic Paraplegia Type 48
Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Dystonia 28, Childhood-Onset
Dystonia, Bulbous nose, Gait disturbance, Toe walking, Craniofacial dystonia, Laryngeal dystonia,... OMIM:617284
Central Diabetes Insipidus
Lethargy, Weight loss, Seizure, Dehydration, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Thyrocerebrorenal Syndrome
Slurred speech, Seizure, Thrombocytopenia, Myoclonus, Euthyroid goiter, Nephritis, Nonprogressive... ORPHA:3327
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, EEG abnormality, Ataxia, Generalized myoclonic seizure OMIM:610951
Caribbean Parkinsonism
Dystonia, Apraxia, Orthostatic hypotension, Progressive gait ataxia, Action tremor, Weakness due ... ORPHA:97355
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Dysphagia, Ataxia, Bilateral tonic-clonic seizure, Cerebel... OMIM:618093
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Distal amyotrophy, Dys... OMIM:606183
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Dysphagia, Bradykinesia, Seizure, Cereb... ORPHA:98768
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
Pontocerebellar Hypoplasia, Type 2E
Short nose, Hypertonia, Cerebral atrophy, Opisthotonus, Bilateral tonic-clonic seizure with gener... OMIM:615851
Combined Malonic And Methylmalonic Aciduria
Generalized clonic seizure, Dehydration, Failure to thrive OMIM:614265
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Gait disturbance, Distal sensory impairment, Steppage gait, Axonal degeneration, Foot ... OMIM:616155
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Ataxia, Brain atrophy, Seizure, Myoclonus OMIM:618225
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Kufor-Rakeb Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Hypertonia, Torticolli... OMIM:606693
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Growth delay, Cerebral atrophy, Respiratory insufficiency, Seizure, Spastic tetraplegia, M... OMIM:614462
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Ataxia, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus, Spa... OMIM:256730
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, ... OMIM:607483
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Spinal muscular atrophy, Cerebellar hypoplasia, Degeneration of anterior h... OMIM:607596
Mitochondrial Dna Depletion Syndrome 18
Scoliosis, Hand muscle atrophy, Distal amyotrophy, Falls, Clonus, Tongue fasciculations, Axonal d... OMIM:618811
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Hypertonia, ... ORPHA:13
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Focal tonic seizure, Simple f... ORPHA:1949
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:601764
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Lafora Disease
Inability to walk, Hypsarrhythmia, Erratic myoclonus, Atonic seizure, Gait disturbance, Focal-ons... ORPHA:501
Familial Infantile Myoclonic Epilepsy
Clumsiness, Focal-onset seizure, Gait disturbance, Blepharospasm, Ataxia, Bilateral tonic-clonic ... ORPHA:352582
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hydrops fetalis, Seizure, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardi... OMIM:618815
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Rhinitis, Short stature, Splenomegaly, Abnormality of the tonsils, Cardi... ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Short stature, Postnatal growth retardation, Decreased response to growth hormone s... OMIM:618160
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebellar Purkinje layer atrophy, Abnorm... ORPHA:98756
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Delayed CNS myelination, Global brain atrophy, Seizure, Cerebellar atrophy, Optic neuro... OMIM:616811
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Bulbous nose, Intention tremor, Hypertonia, Ataxia, Cerebellar atrophy, Resp... OMIM:616505
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Paresthesia, Dysesthesia, Abnormality of extrapyramidal motor function, Acroparesthe... ORPHA:356
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Respiratory insufficiency, Seizur... OMIM:614299
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Combined Malonic And Methylmalonic Acidemia
Generalized clonic seizure, Dystonia, Seizure, Dehydration, Focal impaired awareness seizure, Fai... ORPHA:289504
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Impaired vibratory sensation, Cerebellar vermis hypoplasia, Abnormal pyramidal sign, ... ORPHA:98
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Abnormal myelination, Distal lower limb amyotrophy, Abnorm... ORPHA:431329
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hypertonia, Lethargy, Hyperactivity OMIM:274270
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Atypical absence seizure, Bilateral tonic-clonic seizure,... ORPHA:98795
Pseudo-Torch Syndrome 2
Lethargy, Cerebellar hypoplasia, Respiratory insufficiency, Seizure, Thrombocytopenia, Cerebral h... OMIM:617397
Gaucher Disease, Type Iii
Spastic paraparesis, Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Myoclonus, Sh... OMIM:231000
Early Infantile Epileptic Encephalopathy
Dystonia, Hypsarrhythmia, Atonic seizure, Hyperactivity, Spasticity, Generalized clonic seizure, ... ORPHA:1934
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Spinocerebellar tract degeneration, Global brain atrophy, Pain in... ORPHA:94124
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Respiratory insufficiency, Seizure, Cerebellar atrophy, Myoc... OMIM:618241
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Glossopharyngeal Neuralgia
Dysesthesia, Arnold-Chiari type I malformation, Weight loss, Oral-pharyngeal dysphagia, Seizure, ... ORPHA:221098
Developmental And Epileptic Encephalopathy 49
Spasticity, Seizure, Myoclonus, Dandy-Walker malformation, Prominent nose OMIM:617281
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Involuntary movements, Corpus callosum atrophy, Cerebral atrophy, Cerebellar hypo... ORPHA:565624
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Lower limb spasticity, Abnormal myelination, Aplasia/Hypoplasia of the... ORPHA:401830
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Myoclonus, Ataxia OMIM:274240
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bilateral tonic-clonic seizure, Action tremor, Brady... OMIM:300423
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Spinal muscular atrophy, Hand muscle weakness, Hypertonia, Toe walking, ... ORPHA:466768
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brain atrophy,... ORPHA:442835
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Cerebral atrophy, Cerebellar hypoplasia, Tetraparesis, Status epilepticus, Opis... OMIM:616672
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Seizure, Involuntary movements, Athetosis, Focal sensory seizure ORPHA:98809
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Cerebral atrophy, Neur... OMIM:617672
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Cerebellar cyst, Congenita... ORPHA:370980
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumo... OMIM:601457
Aminoacylase 1 Deficiency
Delayed CNS myelination, Cerebral atrophy, Seizure, Cerebellar atrophy, Hyperactivity OMIM:609924
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor function OMIM:604218
Alternating Hemiplegia Of Childhood
Dystonia, Cardiac conduction abnormality, Tetraparesis, Dehydration, Abnormal T-wave, Rigidity, C... ORPHA:2131
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Atrial Standstill
Hemiplegia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Cardiac conduction abno... ORPHA:1344
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Palpebral edema, Hypertension, Rhinorrhea, Rhiniti... ORPHA:157835
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Spasticity OMIM:617105
Hemimegalencephaly
Atonic seizure, Hemiparesis, Focal tonic seizure, Status epilepticus, Seizure, Abnormal neuron mo... ORPHA:99802
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Spinal muscular atrophy, Diaphragmatic eventrat... OMIM:604320
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Partial absence of cerebellar vermis, Cerebellar hypoplasia, Retrocerebellar cyst, Ataxia, Focal ... ORPHA:137831
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Flexion contracture, Ataxia, Clonus, Optic atrop... OMIM:616881
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Neurodegeneration, Spastic... OMIM:612319
Propionic Acidemia
Apnea, Dystonia, Lethargy, Tachypnea, Cerebral atrophy, Neutropenia, Cerebellar hemorrhage, Seizu... OMIM:606054
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ataxia, Ankle clonus, Spastic gait, Cerebellar at... OMIM:610357
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Interictal epileptiform activity, Bilateral tonic-clon... ORPHA:1929
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Poor co... ORPHA:478029
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Diabetes Mellitus, Transient Neonatal, 1