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Gene: Efhc1 MGI:1919127

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
EF-hand domain (C-terminal) containing 1
Synonyms:
1700029F22Rik,  mRib72-1,  myoclonin1

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 Efhc1 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 predicted to be associated to Efhc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... OMIM:608105
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria OMIM:619191
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... ORPHA:95434
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action m... OMIM:616230
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity OMIM:615924
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Ventriculomegaly OMIM:300699
Dystonia 23
Torticollis, Myoclonus, Head tremor OMIM:614860
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... ORPHA:2590
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... ORPHA:725
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus OMIM:261630
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus OMIM:618285
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity OMIM:617065
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... OMIM:615338
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramida... ORPHA:352596
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Developmental And Epileptic Encephalopathy 92
Seizure, Spasticity, Ataxia, Myoclonus OMIM:617829
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... OMIM:301020
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus OMIM:256731
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus OMIM:619971
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... OMIM:605259
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Ventriculomegaly, Myoclonus, Dysmetria OMIM:618251
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... ORPHA:99802
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... OMIM:617290
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia ORPHA:306511
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, Hyperkinetic movements, Focal impaired aware... OMIM:614254
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:248111
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch... OMIM:614487
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur... OMIM:159950
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spastic paraparesis, Ventriculomegaly ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity OMIM:618201
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si... OMIM:308350
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Pontocerebellar Hypoplasia, Type 4
Seizure, Spasticity, Hypertonia, Myoclonus OMIM:225753
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Congenital Disorder Of Glycosylation, Type In
Seizure, Spasticity, Ataxia, Myoclonus OMIM:612015
Glycine Encephalopathy 1
Seizure, Agenesis of corpus callosum, Myoclonus OMIM:605899
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, Bradykinesi... OMIM:607136
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Ventriculomegaly, Status epilepticus OMIM:617507
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin... ORPHA:79263
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... OMIM:204200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, Dysdia... ORPHA:313772
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... ORPHA:13
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus OMIM:607876
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... ORPHA:485350
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity OMIM:617284
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Ceroid Lipofuscinosis, Neuronal, 1
Seizure, Spasticity, Ataxia, Myoclonus OMIM:256730
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus OMIM:618011
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... ORPHA:289266
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... ORPHA:225154
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Spasticity, Ataxia, Myoclonus OMIM:620094
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Hyperkine... ORPHA:561854
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Seizure, Athetosis, Myoclonus, Ventriculomegaly OMIM:618241
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... OMIM:607822
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, ... ORPHA:251347
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Babinski sign, Myoclonus, Apraxia OMIM:618193
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation OMIM:617235
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine... OMIM:618877
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... OMIM:617493
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... ORPHA:101112
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Agenesis of corpus callosum OMIM:250620
Alexander Disease Type I
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor ORPHA:363717
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... ORPHA:53351
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Agenesis of corpus callosum, Ventri... OMIM:312170
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetr... OMIM:183090
Narp Syndrome
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms, Ventriculomegaly ORPHA:644
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... ORPHA:401866
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, La... OMIM:619847
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Ventriculomegaly, Bilateral tonic-clonic seizure, Facial-lingual fa... OMIM:617281
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Seizure, Lateral ventricle dilatation, Myoclonus, Apraxia, Spasticity OMIM:221770
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Hand tremor, Head tremor OMIM:619724
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention t... OMIM:618356
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Valinemia
Hyperkinetic movements OMIM:277100
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... OMIM:617854
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Atypical Rett Syndrome
Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Pill-rolling tremor, Seizure, Hand ... ORPHA:3095
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... OMIM:615851
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus ORPHA:284417
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Myoclonus OMIM:300673
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Hyperki... OMIM:271980
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi... ORPHA:442835
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Seizure, Myoclonus, Agenesis of corpus callosum, Ventri... OMIM:617669
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... ORPHA:411986
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Seizure, Myoclonu... ORPHA:500144
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Focal tonic... ORPHA:168491
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia OMIM:607196
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Myoclonus OMIM:600795
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... ORPHA:399
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Limb hypertonia OMIM:233910
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticit... ORPHA:3078
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Subependymal Nodular Heterotopia
Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ... ORPHA:101030
D-Glyceric Aciduria
Seizure, Chorea, Myoclonus, Spasticity ORPHA:941
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus ORPHA:98768
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Myoclonus ORPHA:163921
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Intention tremor OMIM:616505
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, To... OMIM:614969
Riboflavin Transporter Deficiency
Tremor, Seizure, Ataxia, Myoclonus ORPHA:97229
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Pyridoxal Phosphate-Responsive Seizures
Seizure, Hypertonia, Status epilepticus, Myoclonus ORPHA:79096
Cog8-Cdg
Seizure, Ataxia, Myoclonus, Ventriculomegaly ORPHA:95428
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Status epilepticus, F... OMIM:220120
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Myoclonus, Head tremor, Limb tremor ORPHA:420492
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... ORPHA:171695
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor OMIM:619738
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:618218
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms OMIM:618374
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis OMIM:616672
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... ORPHA:445038
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ventriculomegaly, Ataxia, Generalized clonic seizure, Tremor, Focal-onset ... OMIM:619229
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Adenylosuccinase Deficiency
Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity OMIM:103050
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Tremor, Typical absence seizure, Dysmetria, Clumsin... ORPHA:845
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... ORPHA:93399
Mepan Syndrome
Chorea, Ataxia, Myoclonus, Spasticity ORPHA:508093
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... OMIM:608643
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Peho Syndrome
Seizure, Myoclonus OMIM:260565
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus ORPHA:812
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus OMIM:168601
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure, Myoclonus, Ventricul... OMIM:618321
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity ORPHA:364028
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti... OMIM:616271
Microcephaly-Capillary Malformation Syndrome
Seizure, Spastic tetraparesis, Myoclonus, Infantile spasms OMIM:614261
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h... OMIM:618076
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... ORPHA:314655
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right hemiplegia OMIM:607426
Infantile Krabbe Disease
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus, Decerebr... ORPHA:206436
Intellectual Developmental Disorder, X-Linked 12
Tremor, Seizure, Hyperkinetic movements, Spasticity, Ventriculomegaly OMIM:300957
Combined Oxidative Phosphorylation Deficiency 14
Seizure, Myoclonus, Ventriculomegaly, Myoclonic seizure OMIM:614946
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus ORPHA:43116
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz... ORPHA:139396
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor OMIM:254900
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hypertonia, Hyperkinetic movements OMIM:236270
Fatal Familial Insomnia
Ataxia, Myoclonus OMIM:600072
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia, Spasticity, Dandy-Walker malf... ORPHA:2752
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Seizure, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity ORPHA:457240
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic... OMIM:616973
Japanese Encephalitis
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus OMIM:620167
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Myoclonus, Tongue fasciculations OMIM:614922
Angelman Syndrome
Ataxia, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypical absence seizur... ORPHA:72
Dystonia-Aphonia Syndrome
Seizure, Myoclonus ORPHA:412217
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... OMIM:301072
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus OMIM:619167
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... OMIM:252160
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Seizure, Ataxia, Myoclonus ORPHA:98794
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Ap... ORPHA:209905
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Ventriculomegaly OMIM:617302
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Myoclonus, Gait ataxia ORPHA:70595
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Whipple Disease
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Seizure, Myoclonus ORPHA:3452
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity OMIM:620089
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms, Ventriculomegaly OMIM:252150
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Oculomotor apraxia ORPHA:247262
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements ORPHA:289522
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized myoclonic seizure, Infantile spasms, Action tremor, Chorea, Generalized non-motor (ab... ORPHA:404454
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Spasticity OMIM:612073
Ataxia-Telangiectasia
Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar ataxia, Dysdiado... OMIM:208900
Leukodystrophy, Hypomyelinating, 10
Seizure, Spasticity, Babinski sign, Hyperkinetic movements OMIM:616420
Autoimmune Hypoparathyroidism
Myoclonic spasms, Hypocalcemic seizures ORPHA:36913
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity OMIM:618426
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic... ORPHA:391428
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Myoclonus ORPHA:251004
Farber Disease
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity ORPHA:333
Immunodeficiency 23
Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... ORPHA:646
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Kinsship Syndrome
Ventriculomegaly, Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Gene... OMIM:619297
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Seizure, Progressive gait ataxia, Myoclonus, Frequ... OMIM:607459
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, Opisthot... ORPHA:217253
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem... ORPHA:550
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetosis, Hyperkinetic mov... OMIM:615273
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc... ORPHA:447997
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Seizure, Myoclonus, Spasticity ORPHA:20
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... OMIM:203700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Spastic paraparesis, Spasticity OMIM:609136
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements ORPHA:93958
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements, Truncal ataxia OMIM:300243
Pgm3-Cdg
Seizure, Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus ORPHA:17
Ethylene Glycol Poisoning
Seizure, Slurred speech, Ataxia, Myoclonus ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Ventriculomegaly, Myoclonus, Tetraplegia OMIM:618278
Joubert Syndrome 1
Oculomotor apraxia, Enlarged fossa interpeduncularis, Hemifacial spasm, Ataxia OMIM:213300
Lathosterolosis
Seizure, Myoclonus ORPHA:46059
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Hypert... OMIM:619124
Leigh Syndrome
Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Choreoathetosis, Seizu... ORPHA:506
Cerebrotendinous Xanthomatosis
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti... ORPHA:909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Ataxia, Tremor, Chorea, Seizure, Athetosis, Hyperkinetic movements, Truncal ataxia OMIM:615356
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus ORPHA:466677
Sialuria
Seizure, Hyperkinetic movements ORPHA:3166
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Vocal cord paralysis, Seizure, Hyp... OMIM:617799
X-Linked Intellectual Disability, Snyder Type
Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus ORPHA:3063
Listeriosis
Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus ORPHA:533
Pseudohypoparathyroidism Type 1B
Myoclonic spasms, Hypocalcemic seizures ORPHA:94089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Seizure, Myoclonus, Spasticity, Ventriculomegaly OMIM:253280
Pseudohypoparathyroidism Type 1A
Choreoathetosis, Myoclonic spasms, Involuntary movements, Hypocalcemic seizures ORPHA:79443
Autosomal Dominant Hypocalcemia
Cortical myoclonus ORPHA:428
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hydrocephalus, He... ORPHA:2495
Pseudohypoparathyroidism Type 1C
Myoclonic spasms, Hypocalcemic seizures ORPHA:79444
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... ORPHA:297
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Seizure, Hypertonia, Hyperkinetic movements, Spasticity, Agenesis of cor... ORPHA:468631
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements ORPHA:525731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Bilater... ORPHA:438213
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Bilateral tonic-... ORPHA:2388
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy ORPHA:522077
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Dandy-Walker malformation, Focal impaired awareness se... ORPHA:79500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Efhc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Efhc1.

No publications found that use IMPC mice or data for Efhc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Efhc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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