Gene: Arx MGI:1097716

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

aristaless related homeobox

Synonyms:

Arx1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Arx 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.

Human diseases associated with Arx (11 diseases)
Human diseases predicted to be associated with Arx (1615 diseases)

The table below shows human diseases associated to Arx by orthology or direct annotation.

Disease	Matching phenotypes	Source
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Spasticity, Rigidity, Status epilepticus, Hemiplegia, Hypertonia	ORPHA:3175
Developmental And Epileptic Encephalopathy 1	Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, EEG with burst suppression, Hyps...	OMIM:308350
Lissencephaly, X-Linked, 2	Ambiguous genitalia, Ventriculomegaly, Decreased testicular size, Lissencephaly, Pachygyria, Micr...	OMIM:300215
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Hypospadias, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:2508
X-Linked Lissencephaly With Abnormal Genitalia	Ambiguous genitalia, Ventriculomegaly, Death in infancy, Hypoplasia of penis, Microcephaly, Pachy...	ORPHA:452
Early Infantile Epileptic Encephalopathy	Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Generalized clonic ...	ORPHA:1934
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hypospadias, Microcephaly, Agenesis of corpus callosum, Cryptorchidism	OMIM:300004
Partington Syndrome	Seizure, EEG abnormality, Delayed speech and language development, Lower limb spasticity, Infanti...	OMIM:309510
Partington Syndrome	Gait disturbance, Lower limb spasticity, EEG abnormality	ORPHA:94083
Intellectual Developmental Disorder, X-Linked 29	Seizure, Babinski sign	OMIM:300419

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

Disease	Matching phenotypes	Source
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Myoclonus, Familial, 1	Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus	OMIM:614937
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Intellectual Developmental Disorder, Autosomal Recessive 6	Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements	OMIM:611092
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Geniospasm 1	Chin myoclonus	OMIM:190100
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor	OMIM:314250
Progressive Myoclonic Epilepsy Type 1	Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure	OMIM:612437
Continuous Spikes And Waves During Sleep	EEG with centrotemporal focal spike waves, Focal-onset seizure, Focal clonic seizure, Interictal ...	ORPHA:725
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Developmental And Epileptic Encephalopathy 9	Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca...	OMIM:300088
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus...	OMIM:162350
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto...	OMIM:254770
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Epilepsy, Familial Adult Myoclonic, 5	Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo...	OMIM:615400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Inappropriate behavior, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper mo...	ORPHA:401901
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton...	OMIM:616187
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Hand tremor, Myoclonus	ORPHA:86814
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure	OMIM:615127
Polymicrogyria, Bilateral Perisylvian, X-Linked	Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se...	OMIM:300388
Creutzfeldt-Jakob Disease	Gait ataxia, Hemiparesis, Myoclonus, Apathy, Dementia, Depression, Anxiety, Irritability, Memory ...	OMIM:123400
Lissencephaly 10	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic...	OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ...	OMIM:204300
Female Restricted Epilepsy With Intellectual Disability	Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Hypera...	ORPHA:101039
Landau-Kleffner Syndrome	Generalized clonic seizure, Focal impaired awareness seizure, Gait ataxia, Aggressive behavior, B...	ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu...	OMIM:615362
Dravet Syndrome	Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure...	OMIM:607208
Lennox-Gastaut Syndrome	Hyperactivity, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Generalized m...	ORPHA:2382
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Me...	OMIM:610003
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Absent speech, Tonic seizu...	OMIM:619964
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Dementia, Ataxia,...	OMIM:254800
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Chudley-Mccullough Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum...	OMIM:604213
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse...	OMIM:618357
Epilepsy, Progressive Myoclonic, 8	Truncal ataxia, Delayed speech and language development, Myoclonus, Choreoathetosis, Limb ataxia,...	OMIM:616230
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Seizure, Motor deterioration, Clumsine...	ORPHA:79262
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Myoclonic Epilepsy Of Infancy	Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Aggres...	ORPHA:86909
Epilepsy, Progressive Myoclonic, 12	Anxiety, Myoclonus, Ataxia, Dysmetria, Bilateral tonic-clonic seizure, Depression, Mental deterio...	OMIM:619191
Isolated Focal Cortical Dysplasia	Bilateral tonic-clonic seizure with focal onset, Epileptic spasm, Generalized-onset seizure, Cogn...	ORPHA:65683
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Hyperactivity, Ataxia, Impulsivity, Bilateral tonic-clonic seizure, Attention ...	OMIM:617113
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater...	OMIM:613721
Chromosome 15Q11-Q13 Duplication Syndrome	Echolalia, EEG abnormality, Impaired social interactions, Truncal ataxia, Delayed speech and lang...	OMIM:608636
Myoclonus-Dystonia Syndrome	Limb myoclonus, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depression, Anxiety, Pers...	ORPHA:36899
Dystonia 11, Myoclonic	Anxiety, Torticollis, Myoclonus, Tremor, Depression, Panic attack, Agoraphobia	OMIM:159900
Dentatorubral-Pallidoluysian Atrophy	Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia	OMIM:125370
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se...	OMIM:615006
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia...	ORPHA:95434
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Delayed speech and language development, Myoclonus, Failure to thrive, Tremor, Anxiety	OMIM:619651
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, EEG abnormality, Status epilepticus, Emotional lability, Absent speech, Bila...	OMIM:617171
Familial Alzheimer-Like Prion Disease	Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi...	ORPHA:280397
Developmental And Epileptic Encephalopathy 104	Seizure, Self-injurious behavior, Hypsarrhythmia, Delayed speech and language development, Clonic...	OMIM:619970
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesi...	OMIM:300067
Rolandic Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit...	ORPHA:1945
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp...	OMIM:601068
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s...	OMIM:614018
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic...	OMIM:616540
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se...	ORPHA:306
Developmental And Epileptic Encephalopathy 53	Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c...	OMIM:617389
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, ...	ORPHA:101029
Developmental And Epileptic Encephalopathy 24	Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei...	OMIM:615871
Developmental And Epileptic Encephalopathy 56	Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Ataxia, Attention deficit hy...	OMIM:617665
Familial Focal Epilepsy With Variable Foci	Cognitive impairment, Paresthesia, Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormalit...	ORPHA:98820
Epilepsy, Progressive Myoclonic, 11	Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor	OMIM:618876
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ...	OMIM:613608
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Unilateral Focal Polymicrogyria	Poor fine motor coordination, EEG with central focal spikes, Bilateral tonic-clonic seizure with ...	ORPHA:268947
Intellectual Developmental Disorder, Autosomal Recessive 25	Delayed speech and language development, Anxiety	OMIM:614346
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Depression	OMIM:603204
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis, Status epilepticus, Absent speech, Failure to thrive, Bilateral tonic...	OMIM:609056
Generalized Epilepsy With Febrile Seizures-Plus	Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene...	ORPHA:36387
Juvenile Absence Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon...	ORPHA:1941
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc...	OMIM:600512
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo...	OMIM:608105
Myoclonic-Atonic Epilepsy	Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure...	OMIM:616421
Symmetrical Thalamic Calcifications	Spasticity, Cognitive impairment, Abnormality of neuronal migration, EEG abnormality, Ataxia, Hyp...	ORPHA:1314
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Absent speech, Bilater...	OMIM:616139
Jeavons Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ...	ORPHA:139431
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical...	OMIM:607682
Paroxysmal Exertion-Induced Dyskinesia	Chorea, Aggressive behavior, Paresthesia, Seizure, Choreoathetosis, Ataxia, Irritability, General...	ORPHA:98811
Progressive Myoclonic Epilepsy Type 3	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My...	ORPHA:263516
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c...	OMIM:617831
Dravet Syndrome	Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons...	ORPHA:33069
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Abnormality of neuronal m...	OMIM:604317
Ceroid Lipofuscinosis, Neuronal, 8	Seizure, EEG abnormality, Delayed speech and language development, Myoclonus, Ataxia	OMIM:600143
Perioral Myoclonia With Absences	Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton...	ORPHA:139426
Juvenile Huntington Disease	Gait ataxia, Chorea, Seizure, Weight loss, Rigidity, Myoclonus, Ataxia, Dementia, Depression, Pro...	ORPHA:248111
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti...	ORPHA:500166
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure...	OMIM:617904
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus, Intrauterine growth retardation, Dehydration	OMIM:601410
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par...	OMIM:605407
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Seizure, Delayed speech and language development, Myoclonus, Choreoathetosis, Gen...	OMIM:301020
Huntington Disease	Poor fine motor coordination, Suicidal ideation, Inability to walk, Babinski sign, Difficulty wal...	ORPHA:399
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait	OMIM:616921
Lissencephaly 3	Gray matter heterotopia, Ventriculomegaly, Agyria, Lissencephaly, Microcephaly, Pachygyria, Hypop...	OMIM:611603
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni...	OMIM:618396
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Seizure, Delayed speech and language development, Myoclonus,...	OMIM:615924
Juvenile Myoclonic Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress...	ORPHA:307
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Cognitive impairment, Myoclonus, Dementia, Jerk-locked premyoclonus spikes, EEG wi...	OMIM:607876
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr...	OMIM:618587
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Hemiparesis, Focal-onset seizure, Generalized myoclonic seizure, Fo...	ORPHA:101071
Cerebral Creatine Deficiency Syndrome 2	Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Seizure, Rigi...	OMIM:612736
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizu...	OMIM:271980
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Bilateral tonic-clonic seiz...	OMIM:619157
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Ir...	OMIM:261630
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Hypsarrhythmia, Delayed...	OMIM:616409
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Aggressive behavior, Seizure, Self-injurious behavior, Myoclonus, Focal tonic seizure, Hypertonia...	OMIM:300699
Polymicrogyria, Bilateral Temporooccipital	Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i...	OMIM:612691
Epilepsy, Familial Temporal Lobe, 5	Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i...	OMIM:614417
Developmental And Epileptic Encephalopathy 54	Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Absent ...	OMIM:617391
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Seizure, EEG abnormality, Myoclonus, Psychomotor deterioration, Ataxia, Depression, I...	OMIM:256730
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blunting, Echolal...	ORPHA:275864
Developmental And Epileptic Encephalopathy 37	Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton...	OMIM:616981
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Spasticity, Aggressive behavior, Seizure, EEG abnormality, Frontal lobe d...	OMIM:221770
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ...	OMIM:617542
Spinocerebellar Ataxia 38	Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor	OMIM:615957
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Frequent falls	OMIM:619647
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu...	OMIM:245570
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ...	ORPHA:314632
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Bilateral tonic-clo...	OMIM:618093
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia	OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Delayed speech and language development, Myoclonus, Ataxia, Abnormal nervous system elec...	OMIM:204500
Foxg1 Syndrome	Paroxysmal bursts of laughter, Spasticity, Decreased body weight, Cognitive impairment, Inability...	ORPHA:561854
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, Ataxia	OMIM:617709
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 32	Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo...	OMIM:616366
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Abnormal nervous...	OMIM:256731
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo...	ORPHA:2590
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, EEG with generalized slow activity grade 4, Spasticity, Cog...	ORPHA:79263
Lissencephaly 1	Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Seizure, Agyria, Pachygyria, Motor seizure, Infantile spasms	ORPHA:1084
Nodular Neuronal Heterotopia	Abnormality of neuronal migration, Seizure	ORPHA:2149
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Seizure, Ataxia	OMIM:618709
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia	ORPHA:22
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic seizure, EEG with polyspike wave complexes, Increased theta frequency activity in EEG, ...	OMIM:619000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear/anxiety-related behavior, Aggressive behavior, Spasticity, Seizure, Suicidal ideati...	ORPHA:208441
Developmental And Epileptic Encephalopathy 94	Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta...	OMIM:615369
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Inability to walk, Myoclonus, Ataxia, Absent speech, Difficulty walking, Let...	OMIM:617829
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Hemiparesis, Delayed speech and language development, Myoclonus, Choreoathet...	OMIM:606777
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes	OMIM:611364
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins...	OMIM:607317
Epilepsy, Pyridoxine-Dependent	EEG with burst suppression, Delayed speech and language development, Generalized myoclonic seizur...	OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Psychomotor deter...	OMIM:204200
Spinocerebellar Ataxia 17	Gait ataxia, Chorea, Aggressive behavior, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Fr...	OMIM:607136
Autosomal Dominant Epilepsy With Auditory Features	Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ...	ORPHA:101046
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria	OMIM:600176
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Spasticity, Seizure, Focal-onset seizure, Hypsarrhythmia, Delayed speech and l...	OMIM:226750
Developmental And Epileptic Encephalopathy 6B	Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Multifoc...	OMIM:619317
Clcn4-Related X-Linked Intellectual Disability Syndrome	Chorea, Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Myoclonus, Focal to...	ORPHA:485350
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Absent speech, Bilateral tonic-c...	OMIM:616056
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, EEG with generalized epileptiform discharges, Se...	ORPHA:163721
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr...	ORPHA:254343
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, Delayed speech and language development, Myoclon...	OMIM:617643
Episodic Ataxia, Type 5	Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a...	OMIM:613855
Spinocerebellar Ataxia Type 14	Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,...	ORPHA:98763
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Delayed speech and language development, Bilateral tonic-clonic seizure, Aggressive behavior, Low...	OMIM:619639
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Delayed speech and language development, Torticollis, Ataxia, Bilateral tonic-clonic seiz...	OMIM:618425
Chorea, Benign Hereditary	Chorea, Gait disturbance, Dementia, Frequent falls, Anxiety	OMIM:118700
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Absent speech, Bilateral tonic-cloni...	OMIM:619301
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Myoclonic seizure, Chorea, Spasticity, Self-injurious behavior, Seizure, Inability to walk, Myocl...	OMIM:614254
Hartnup Disorder	Hyperactivity, Generalized tonic seizure, Seizure, Episodic ataxia, Emotional lability, Attention...	OMIM:234500
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Somatic sensory dysfunction, Spasticity, Aggressive behavior, Cognitive impairment, Abnormal pyra...	ORPHA:199354
Microcephaly 9, Primary, Autosomal Recessive	Aggressive behavior, Self-injurious behavior, Seizure, Simplified gyral pattern, Impulsivity	OMIM:614852
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo...	OMIM:616172
Huntington Disease-Like 2	Chorea, Inertia, Weight loss, Rigidity, Apathy, Dementia, Action tremor, Depression, Anxiety, Sub...	OMIM:606438
Epilepsy, Early-Onset, Vitamin B6-Dependent	Myoclonic seizure, Delayed speech and language development, Myoclonus, Clonic seizure, Tonic seiz...	OMIM:617290
Combined Saposin Deficiency	Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations	OMIM:611721
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, EEG with series of focal spikes, Focal-onset seizure, Atonic seizure, EEG with...	ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 69	Delayed speech and language development, Bilateral tonic-clonic seizure, Intention tremor, Absent...	OMIM:617863
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Lissencephaly 4	Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colpo...	OMIM:614019
Developmental And Epileptic Encephalopathy 12	Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E...	OMIM:613722
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Crouch gait, Delayed speech ...	OMIM:620145
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Simplified gyral pattern, Thin corpus callosum, Fusion of the caudate and putamen, Lissencephaly,...	OMIM:614039
Glycine Encephalopathy	Aggressive behavior, Seizure, Myoclonus, Irritability, Agenesis of corpus callosum	OMIM:605899
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Rigidity, Myoclonus, Apathy...	OMIM:600795
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Prolonged neonatal jaundice, Growth delay, Hypoglycemia	OMIM:262400
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, EEG abnormality, Hypsarrhythmia, Myoclonus, Status epilepticus, Absent speec...	OMIM:618285
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,...	ORPHA:726
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Paroxysmal Non-Kinesigenic Dyskinesia	Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp...	ORPHA:98810
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Part...	OMIM:619302
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Anxiety, Infantile spasms	OMIM:619031
Posttransplant Acute Limbic Encephalitis	Cognitive impairment, Seizure, Myoclonus, Ataxia, EEG with abnormally slow frequencies, EEG with ...	ORPHA:163921
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Tremor, Dysphagia, Mental deterioration, Fasciculations	ORPHA:309169
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal-onset seizure, Interictal epileptiform activity, EEG with foc...	ORPHA:1929
Schizencephaly	Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	OMIM:269160
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Self-injurious behavior, Impaired social interactions, Inappropriate crying, Absent spee...	ORPHA:397933
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal...	ORPHA:276435
Guanidinoacetate Methyltransferase Deficiency	Chorea, Aggressive behavior, Self-injurious behavior, Seizure, Abnormality of extrapyramidal moto...	ORPHA:382
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei...	OMIM:616685
Progressive Supranuclear Palsy-Corticobasal Syndrome	Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ...	ORPHA:240103
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature	OMIM:262700
Band Heterotopia	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic...	OMIM:600348
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Hypoglycemia, Growth delay, Short stature	ORPHA:314802
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Seizure	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Delayed speech and language development, Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Cognitive impairment, Tip-toe gait, Delayed speech and language developm...	OMIM:617284
Developmental And Epileptic Encephalopathy 30	Seizure, Hypsarrhythmia, Generalized myoclonic seizure, Absent speech, Bilateral tonic-clonic sei...	OMIM:616341
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Abnormal caudate nucleus morphology, Lateral...	ORPHA:300573
Developmental And Epileptic Encephalopathy 13	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit...	OMIM:614558
Developmental And Epileptic Encephalopathy 99	Perisylvian polymicrogyria, Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemi...	OMIM:619606
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior, Seizure	OMIM:615493
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Lissencephaly, Partial agenesis of the corpus callosum, Microcephaly, Pachygyria, Unilateral poly...	OMIM:610031
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu...	OMIM:620115
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Difficulty walking, Fasciculations	OMIM:615048
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Anxiety, Resting tremor, Parkinsonism, Delayed speech and language development, Myoclonus...	OMIM:619725
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior, Seizure	ORPHA:356996
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, EEG abnormality, Hemiparesis, Delayed spe...	ORPHA:71277
Developmental And Epileptic Encephalopathy 67	Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se...	OMIM:618141
Inherited Creutzfeldt-Jakob Disease	Babinski sign, Spastic hemiparesis, Bradykinesia, Gait ataxia, EEG with persistent abnormal rhyth...	ORPHA:282166
Periventricular Nodular Heterotopia 6	Focal motor seizure, Infantile spasms, Seizure, Periventricular nodular heterotopia	OMIM:615544
Developmental And Epileptic Encephalopathy 57	Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure	OMIM:617771
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Hypsarrhythmia, Abnormality of extrapy...	ORPHA:204
Dystonia 23	Torticollis, Head tremor, Myoclonus	OMIM:614860
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality	OMIM:614115
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized...	OMIM:609446
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni...	ORPHA:79137
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Inability to walk, Rigidity, Myoclonus, Irritability, Gait disturbance, Absent speech, L...	OMIM:618241
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Hypoglycemia, Intrauterine growth retardation	OMIM:223500
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m...	OMIM:611726
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Generalized-onset seizure, Hyperactivity, Irritability, Seizure	OMIM:616657
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Aggressive behavior, Weight loss, Parkinsonism, Truncal ataxia, Rigidity...	OMIM:137440
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Primary microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria	ORPHA:171703
Developmental And Epileptic Encephalopathy 19	Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti...	OMIM:615744
Developmental And Epileptic Encephalopathy 52	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei...	OMIM:617350
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a...	OMIM:616461
Hemimegalencephaly	Seizure, Focal motor seizure, EEG with polyspike wave complexes, EEG with burst suppression, EEG ...	ORPHA:99802
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Spastic diplegia, Delayed speech and language development, Myoclonus, Ataxia, Babinski sign, Bila...	OMIM:619065
Early Myoclonic Encephalopathy	Focal motor seizure, EEG abnormality, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Myoclo...	ORPHA:1935
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban...	ORPHA:363710
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton...	OMIM:613863
Atypical Rett Syndrome	Gait ataxia, Spasticity, Limb myoclonus, Seizure, Inability to walk, Impaired social interactions...	ORPHA:3095
Benign Familial Neonatal Epilepsy	Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil...	ORPHA:1949
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Seizure, Periventricular nodular heterotopia	OMIM:608097
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure with focal onset, EEG with burst suppression, Focal-onset seizure,...	OMIM:619605
Facial Onset Sensory And Motor Neuronopathy	Fasciculations, Paresthesia, Dysphagia	ORPHA:85162
Spinocerebellar Ataxia 19	Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh...	OMIM:607346
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Postnatal growth retardation	OMIM:232700
Developmental And Epileptic Encephalopathy 42	Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c...	OMIM:617106
Microcephaly, Seizures, And Developmental Delay	Simplified gyral pattern, Hyperactivity, Seizure, Ataxia	OMIM:613402
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Bilateral tonic-clonic seizure, Seizure	OMIM:608762
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus...	OMIM:500003
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Absent speech, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callo...	ORPHA:250972
Intellectual Developmental Disorder, X-Linked 1	Aggressive behavior, Seizure, Delayed speech and language development, Bilateral tonic-clonic sei...	OMIM:309530
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure	OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, S...	OMIM:619827
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Thin corpus callosum, Unilateral cryptorchidism, Probst bundles, Agenesis of co...	OMIM:618286
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormality of thalamus morphology, Focal white matter lesions	ORPHA:557003
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Myoclonic seizure, Generalized-onset seizure, Lissencephaly, Periventricular ribbonlike heterotop...	OMIM:618677
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Inability to walk, Spastic paraplegia	OMIM:618572
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, EEG abnormality, Apraxia, Myoclonus, Dementia, Babinski sign, Memory impairment	OMIM:618193
Bilateral Generalized Polymicrogyria	Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s...	ORPHA:208447
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Myoclonus, Failure to thrive, Dysmetria, Progressive neurologic deterioration	OMIM:618251
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Vocal tremor	ORPHA:420485
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Delayed speech and language development, Ab...	ORPHA:101150
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure	OMIM:618596
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m...	OMIM:613060
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Parkinsonism, Motor deterioratio...	ORPHA:412066
Childhood-Onset Spasticity With Hyperglycinemia	Cognitive impairment, Spastic diplegia, Progressive spasticity, Spastic dysarthria, Loss of abili...	ORPHA:401866
Developmental Delay And Seizures With Or Without Movement Abnormalities	EEG abnormality, Rigidity, Delayed speech and language development, Generalized myoclonic seizure...	OMIM:617836
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Cortical dysplas...	OMIM:608716
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604233
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Myoclonic seizure, Hyperactivity, Myoclonus, Bilateral tonic-clonic seizure, Attention de...	OMIM:617600
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Gait ataxia, Seizure, Delayed speech and language development, EEG with focal spikes, Abnormal la...	ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 12	Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast...	OMIM:614322
Short Stature Due To Ghsr Deficiency	Delayed puberty, Hypoglycemia, Growth delay, Short stature	ORPHA:314811
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Spasticity, Rigidity, Status epilepticus, Hemiplegia, Hypertonia	ORPHA:3175
Transient Neonatal Diabetes Mellitus	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di...	ORPHA:99886
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Epileptic spasm, Spastic tetraplegia, EEG with polyspike wave complexes, EEG w...	OMIM:619913
Gaucher Disease, Type Iii	Decreased body weight, Myoclonus, Generalized myoclonic seizure, Ataxia, Dementia, Spastic parapa...	OMIM:231000
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ...	OMIM:607745
Intellectual Developmental Disorder, X-Linked 30	Hyperactivity, Aggressive behavior, Seizure, Agitation, Bilateral tonic-clonic seizure, Anxiety, ...	OMIM:300558
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Myoclonus, Choreoathetosis, Absent speech, Tonic s...	OMIM:618497
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis,...	OMIM:617065
Neurodevelopmental Disorder With Involuntary Movements	Chorea, Spasticity, Self-injurious behavior, Multifocal epileptiform discharges, Absent speech, B...	OMIM:617493
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure,...	OMIM:612621
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Cognitive impairment, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclon...	OMIM:614487
Microcephaly 16, Primary, Autosomal Recessive	Simplified gyral pattern, Cryptorchidism, Agenesis of corpus callosum, Primary microcephaly	OMIM:616681
Basal Ganglia Calcification, Idiopathic, 5	Chorea, Cognitive impairment, Parkinsonism, Apathy, Dementia, Depression, Anxiety, Athetosis	OMIM:615483
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Cognitive impairment, Paresthesia, Abnormality of extrapyramidal mot...	ORPHA:356
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, Normal pressure hydrocephalus, Lateral ventricle dilatation, ...	ORPHA:300570
Corticobasal Syndrome	Limb myoclonus, Akinesia, Parkinsonism, Limb apraxia, Myoclonus, Gait disturbance, Dementia, Trem...	ORPHA:454887
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Cognitive impairment, Spastic gait, Parkinsonism, Myoclonus, Atax...	ORPHA:306511
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ...	OMIM:619028
Episodic Ataxia, Type 9	Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon...	OMIM:618924
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations	OMIM:183050
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Seizure, Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, Lethar...	OMIM:250620
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Decreased tha...	ORPHA:370959
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myoclonic seizure, Gait ataxia, Spasticity, EEG abnormality, Apraxia, Delayed speech and language...	OMIM:617810
Tubulinopathy-Associated Dysgyria	Agyria, Ataxia, Dysgyria, Attention deficit hyperactivity disorder, Startle-induced seizure, Pach...	ORPHA:467166
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Rigidity, Delayed speech and language development, Generalized myoclonic seizure, Ab...	OMIM:618090
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen...	OMIM:617924
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Seizure	ORPHA:436151
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Anterior hypopituitarism, Ambiguous genitalia, Dysplastic corpus callosum	OMIM:601016
Alexander Disease Type I	Hydrocephalus, Rosenthal fibers, Abnormal cerebral white matter morphology, Focal T2 hyperintense...	ORPHA:363717
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait, Fasciculations	OMIM:606595
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge...	ORPHA:352596
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Perisylvian polymicrogyria, Ventriculomegaly, Agyria, Dysgenesis of the...	ORPHA:171680
Cach Syndrome	Primary amenorrhea, Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian insuffi...	ORPHA:135
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif...	OMIM:617711
Phosphoserine Aminotransferase Deficiency	Myoclonus, Seizure, Hypertonia	OMIM:610992
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Growth dela...	ORPHA:171706
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Impaired pain sensation, Limb fasciculations, Impaired temperature sensation, Steppage gait	ORPHA:99940
Centralopathic Epilepsy	EEG with centrotemporal focal spike waves, Nocturnal seizures, Bilateral tonic-clonic seizure wit...	OMIM:117100
Alexander Disease	Spasticity, Seizure, Palatal tremor, Apathy, Ataxia, Babinski sign, Dysmetria	OMIM:203450
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Yoon-Bellen Neurodevelopmental Syndrome	Spasticity, Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, Bil...	OMIM:619701
Spinocerebellar Ataxia, Autosomal Recessive 10	Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations	OMIM:613728
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Short stature, Postnatal growth retardation	OMIM:616113
Huntington Disease-Like 1	Chorea, Aggressive behavior, Rigidity, Incoordination, Dementia, Dysmetria, Depression, Anxiety, ...	OMIM:603218
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Erratic myoclonus, Seizure, Spastic tetraplegia, EEG with burst suppression, Myoclonus, Ataxia, E...	OMIM:619971
Hsd10 Disease	Seizure, Rigidity, Delayed speech and language development, Myoclonus, Choreoathetosis, Abnormal ...	ORPHA:391417
Myoclonic Epilepsy, Familial Infantile	Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ...	OMIM:605021
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Seizure, Falls, Rigidity, Delayed speech and language development, Abnormality of extrapy...	ORPHA:13
Periventricular Nodular Heterotopia 8	Seizure, Periventricular nodular heterotopia	OMIM:618185
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus	OMIM:615338
3Q13 Microdeletion Syndrome	Hypoplasia of penis, Agenesis of corpus callosum, Cryptorchidism	ORPHA:1621
Hyperlysinemia, Type I	Hyperactivity, Cognitive impairment, Seizure	OMIM:238700
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Ataxia	OMIM:239500
Developmental And Epileptic Encephalopathy 23	Hypsarrhythmia, Myoclonus, Absent speech, Tonic seizure, Bilateral tonic-clonic seizure, Atonic s...	OMIM:615859
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication, Dementia, Anxiety	ORPHA:494541
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Generalized myoclonic seizure, Myoclonus, Dementia, Tremor, Frequent f...	OMIM:159950
Kufor-Rakeb Syndrome	Spasticity, Aggressive behavior, Seizure, Akinesia, Parkinsonism, Rigidity, Torticollis, Parapare...	OMIM:606693
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Abnormal social behavior, Ataxia, ...	ORPHA:1020
Pyridoxine-Dependent Epilepsy	Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Atonic seizure, F...	ORPHA:3006
Seizures, Benign Familial Neonatal, 2	Bilateral tonic-clonic seizure, Focal clonic seizure	OMIM:121201
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Suicidal ideation, Increased theta frequency activity in EEG, Involuntary m...	ORPHA:98784
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, EEG with generalized epi...	OMIM:617976
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox...	OMIM:606703
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Polyphagia, Focal impaired awareness seizure, Self-mutilation, Generalized n...	OMIM:616521
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Gait ataxia, Chorea, Spasticity, Febrile seizure (within the age range of 3 months to 6 years), S...	OMIM:618917
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Decreased motor nerve ...	OMIM:616688
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Seizure, Myoclonus, Ataxia, Anxiety	OMIM:620094
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Cryptorchidism, Hypo...	OMIM:164180
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Dementia, Distal sensory impair...	OMIM:604218
Childhood Disintegrative Disorder	Abnormal emotion/affect behavior, Social and occupational deterioration, Seizure, Impaired social...	ORPHA:168782
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Cognitive impairment, Seizure, Parkinsonism, Motor deterioration, C...	ORPHA:79264
Lafora Disease	Erratic myoclonus, Focal-onset seizure, Atonic seizure, Focal impaired awareness seizure, Spastic...	ORPHA:501
Leukoencephalopathy With Dystonia And Motor Neuropathy	Leukoencephalopathy, Abnormality of thalamus morphology, Abnormal motor neuron morphology, Azoosp...	OMIM:613724
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Agenesis of corpus callosum	OMIM:619501
Spinocerebellar Ataxia 50	Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment	OMIM:620158
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Seizure, Lateral ventricle dilatation, Impaired social interactions, Clumsiness, Para...	OMIM:617854
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Aggressive behavior, Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Failure to th...	OMIM:618356
Spinocerebellar Ataxia Type 2	Gait ataxia, Chorea, Postural tremor, Parkinsonism, Abnormal cortical gyration, Dementia, Kinetic...	ORPHA:98756
Alternating Hemiplegia Of Childhood 1	Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic quadriplegia	OMIM:104290
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Dementia, Depression, Anxiety, Bradykinesia	OMIM:605909
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Death in infancy	ORPHA:85334
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Self-injurious behavior, Bilateral tonic-clonic seizure, Anxiety, Gene...	OMIM:615637
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Spasticity, Rigidity, Delayed speech and language development, Myoclonus, Choreoathe...	ORPHA:225154
Baker-Gordon Syndrome	Inability to walk, EEG abnormality, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic ...	OMIM:618218
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Cryptorchidism, Frontal cortical atrophy, Death in childhood, Par...	OMIM:618766
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Attention deficit hyperactivity disorder, Generalized non-motor (absen...	ORPHA:35878
Spinocerebellar Ataxia 14	Gait ataxia, Impaired vibration sensation at ankles, Mental deterioration, Dysmetria, Attention d...	OMIM:605361
Familial Dyskinesia And Facial Myokymia	Chorea, Myoclonus, Limb hypertonia, Resting tremor	ORPHA:324588
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Seizure, Generalized non-motor (absence) seizure	OMIM:613886
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Cognitive impairment, Seizure	ORPHA:2216
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Delayed speech and language development, Bradykinesia, Lower limb spasticity, Anxiety	OMIM:618878
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:2466
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Hepatomegaly, Cryptorchidism, Dehydration, Intrauterine growth retardation	OMIM:618958
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab...	OMIM:618482
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Seizure, Limb hypertonia, Rigidity, Delayed speech and language development, Myoclonu...	ORPHA:442835
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Hypsarrhythmia, Focal ...	OMIM:617105
Myoclonic-Astatic Epilepsy	Hyperactivity, Abnormal emotion/affect behavior, Focal-onset seizure, Generalized myoclonic seizu...	ORPHA:1942
Narp Syndrome	Seizure, Myoclonic spasms, Progressive gait ataxia, Dementia, Babinski sign, Ataxia, Irritability	ORPHA:644
Pontocerebellar Hypoplasia Type 4	Myoclonus, Seizure, Hypertonia	ORPHA:166063
Pitt-Hopkins-Like Syndrome 1	Bilateral tonic-clonic seizure with focal onset, Spasticity, Aggressive behavior, Generalized-ons...	OMIM:610042
Epilepsy, Familial Temporal Lobe, 3	Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure	OMIM:611630
Peho-Like Syndrome	Hypsarrhythmia, Myoclonus, Status epilepticus, Absent speech, Bilateral tonic-clonic seizure	OMIM:617507
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Pachygy...	ORPHA:2512
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Bilateral tonic-clonic seizure, Hand tremor, Absent speech	OMIM:617862
Dentatorubral Pallidoluysian Atrophy	Gait ataxia, Blepharospasm, Cognitive impairment, Seizure, Dysdiadochokinesis, Truncal ataxia, My...	ORPHA:101
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Myoclonus, Failure to thrive, Hypertonia, Unsteady gait	OMIM:610090
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Aggressive behavior, Anxiety, Impaired social interactions, Hyperkinetic movements, Parki...	OMIM:619738
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Dehydration	ORPHA:79159
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Primary microcephaly, Thin corpus callosum, Dysge...	OMIM:615771
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Delayed speech and language developm...	ORPHA:352582
Childhood Absence Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se...	ORPHA:64280
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Chorea, Self-injurious behavior, EEG abnormality, Focal-onset seizure, Convulsive status epilepticus	OMIM:618760
Cln3 Disease	Myoclonic seizure, Aggressive behavior, Seizure, Anxiety, Focal-onset seizure, Dementia, Ataxia, ...	ORPHA:228346
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Action tremor, Depression, An...	OMIM:604326
Enteric Anendocrinosis	Portal hypertension, Type I diabetes mellitus, Cholestatic liver disease, Dehydration	ORPHA:83620
Thyrocerebrorenal Syndrome	Myoclonus, Slurred speech, Seizure, Nonprogressive cerebellar ataxia	ORPHA:3327
Hemochromatosis, Neonatal	Cirrhosis, Hepatic fibrosis, Hepatocellular necrosis, Nonimmune hydrops fetalis, Oligohydramnios,...	OMIM:231100
Spinocerebellar Ataxia 13	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Impaired distal vibration...	OMIM:605259
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Tip-toe gait, Decreased motor nerve conduction velocity, Ste...	OMIM:614436
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Seizure, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Absent speech, B...	ORPHA:330050
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Seizure, Delayed speech a...	ORPHA:363400
Autosomal Dominant Spastic Paraplegia Type 6	Postural tremor, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Lower limb sp...	ORPHA:100988
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Seizure, Parkinsonism, Rigidity, Delayed speech and language development, Apraxia, Ba...	OMIM:300423
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Apathy, Tremor,...	ORPHA:240085
Developmental And Epileptic Encephalopathy 49	Spasticity, Seizure, EEG abnormality, Myoclonus, Absent speech	OMIM:617281
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Developmental And Epileptic Encephalopathy 4	Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener...	OMIM:612164
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Dysplastic corpus callosum, Cryptorchidism	OMIM:620135
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Truncal ataxia, Palatal tremor, Spastic paraparesis	OMIM:113610
Congenital Disorder Of Glycosylation, Type In	Spasticity, Seizure, Myoclonus, Ataxia, Failure to thrive	OMIM:612015
Dystonia 12	Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Bradyk...	OMIM:128235
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Primary microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia ...	OMIM:617090
Subependymal Nodular Heterotopia	Limb myoclonus, Seizure, Focal-onset seizure, Interictal EEG abnormality, Focal aware seizure, EE...	ORPHA:101030
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo...	OMIM:612016
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Gait ataxia, Focal-onset seizure, Delayed speech and language development, Myo...	OMIM:619092
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, EEG abnormality, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonu...	ORPHA:313772
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:274240
Seizures, Benign Familial Infantile, 1	Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ...	OMIM:601764
Leukodystrophy, Hypomyelinating, 11	Ataxia, Spasticity, Tremor, Myoclonus	OMIM:616494
Developmental And Epileptic Encephalopathy 47	EEG abnormality, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Limb at...	OMIM:617166
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Simplified gyral pattern, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abse...	OMIM:618492
Epilepsy, Familial Focal, With Variable Foci 4	Focal-onset seizure, Delayed speech and language development, Clonic seizure, Simple febrile seiz...	OMIM:617935
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly	OMIM:303350
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Simplified gyral patt...	OMIM:619244
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration...	OMIM:233910
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms...	OMIM:619616
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:401820
Severe Canavan Disease	Spasticity, Seizure, Absent speech, Babinski sign, Bilateral tonic-clonic seizure, Irritability, ...	ORPHA:314911
Posterior Cortical Atrophy	Inertia, Oculomotor apraxia, Limb apraxia, Ataxia, Anxiety, Language impairment, Memory impairmen...	ORPHA:54247
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:401830
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus...	ORPHA:397725
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat...	ORPHA:53583
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Focal-onset se...	OMIM:616645
Cntnap2-Related Developmental And Epileptic Encephalopathy	Focal-onset seizure, Interictal epileptiform activity, EEG with generalized slow activity, Aggres...	ORPHA:163681
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Lateral ventricle dilatation, EEG with polyspike wave complexes, Inappropriate crying, M...	ORPHA:284417
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:289548
Developmental And Epileptic Encephalopathy 1	Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, EEG with burst suppression, Hyps...	OMIM:308350
New-Onset Refractory Status Epilepticus	EEG with frontal epileptiform discharges, Myoclonic seizure, Bilateral tonic-clonic seizure with ...	ORPHA:363558
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus, Depression, Anxiety	OMIM:616398
Spinocerebellar Ataxia Type 1	Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p...	ORPHA:98755
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebral cortical atrophy, Simplified gyral pattern, Decreased thalamic volume, Microcephaly, Hyp...	OMIM:619072
Neuronopathy, Distal Hereditary Motor, Type Iid	Decreased motor nerve conduction velocity, Difficulty walking, Fasciculations	OMIM:615575
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz...	OMIM:619428
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus, Memory impairment, Dementia	ORPHA:324708
Pontocerebellar Hypoplasia, Type 1E	EEG with burst suppression, Myoclonus	OMIM:619303
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Ventriculomegaly, Agenesis of corpus c...	ORPHA:85179
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Seizure, Resting tremor, Parkinsonism, Torticollis, Emotional lability, Depression, ...	ORPHA:71517
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Short stature	ORPHA:366
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microliss...	OMIM:616212
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Chorea, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure,...	OMIM:613970
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Combined Oxidative Phosphorylation Deficiency 54	Periventricular nodular heterotopia, Secondary microcephaly, Hypergonadotropic hypogonadism, Peri...	OMIM:619737
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Impaired distal tactile s...	OMIM:600882
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Shawl scrotum, Decreased testicular size, Alobar holoprosencephaly, Cryptorchid...	OMIM:615433
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s...	OMIM:610539
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Inability to walk, Truncal ataxia, Oculomotor apraxia, Simplified gy...	OMIM:618273
Spinocerebellar Ataxia, Autosomal Recessive 32	Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos...	OMIM:619862
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Simplified gyral pattern, Hyperactivity, Aggressive behavior, Seizure	OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Abnormal aggressive, impuls...	ORPHA:3077
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Agenesis of corpus callosum, Microcephaly	OMIM:616570
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Dehydration	OMIM:251850
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Seizure, Akinesia, Parkinsonism, Rigidity, Delayed speech and language devel...	OMIM:300894
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Developmental And Epileptic Encephalopathy 68	Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Clonus	OMIM:618201
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Pontocerebellar Hypoplasia, Type 4	Spasticity, Seizure, Myoclonus, Hypertonia	OMIM:225753
Cln5 Disease	Truncal ataxia, Focal-onset seizure, EEG with generalized slow activity, Spasticity, Aggressive b...	ORPHA:228360
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
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, Focal-o...

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