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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
Myoclonus, Seizure OMIM:217200
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Dystonia 3, Torsion, X-Linked
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor OMIM:314250
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Myoclonus-Dystonia Syndrome
Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus ORPHA:36899
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Generalized myoclonic seizure, Myoclonus, Gait ataxia, Agenesis of corpus callo... OMIM:616540
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:162350
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Epilepsy, Progressive Myoclonic, 11
Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo... OMIM:608105
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly, Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic ... OMIM:617391
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson... OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Dystonia 11, Myoclonic
Myoclonus, Tremor, Torticollis OMIM:159900
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls OMIM:619647
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction ORPHA:401901
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Seizure, Ataxia OMIM:600143
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ventriculomegaly, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fu... OMIM:615362
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ... ORPHA:95434
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure OMIM:618425
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Tremor, Bilateral ton... OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... ORPHA:86909
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Limb ataxia, Myoclonus, Bilateral tonic-clonic seizure, Truncal ataxia, Choreoa... OMIM:616230
Combined Saposin Deficiency
Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure OMIM:611721
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Clumsiness, ... ORPHA:2590
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:615924
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly, Seizure, Myoclonus, Limb tremor, Hypertonia, Focal tonic seizure OMIM:300699
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Fasciculations, Ankle clonus, Hoffmann sign, Babinski sign, Lower limb spasticity, Sp... OMIM:615681
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Dystonia 23
Head tremor, Myoclonus, Torticollis OMIM:614860
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Paroxysmal cho... OMIM:500003
Dystonia 6, Torsion
Myoclonus, Torticollis OMIM:602629
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia... ORPHA:725
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi... ORPHA:71277
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Spastic tetraplegia, Myoclonus, Status epilepticus OMIM:618285
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Choreoathetosis OMIM:261630
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil... OMIM:615338
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal ... ORPHA:352596
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis OMIM:617065
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Seizure, Ataxia OMIM:617829
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Focal hemiclonic ... OMIM:620145
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... ORPHA:98810
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor ORPHA:420485
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Frequent falls, Generalized myoclonic... OMIM:301020
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia OMIM:619065
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure ORPHA:166063
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Myoclonus, Dysmetria, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis OMIM:256731
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, Myoclonus, Ataxia, Erratic myoclonus, Spastic tetraplegia OMIM:619971
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor OMIM:619651
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Hyperkinetic movements, Tonic seizure, Bi... OMIM:618497
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Ventriculomegaly, Myoclonus, Seizure OMIM:618251
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized onset, Lower limb s... OMIM:619028
Familial Dyskinesia And Facial Myokymia
Chorea, Myoclonus, Resting tremor, Limb hypertonia ORPHA:324588
Dystonia 26, Myoclonic
Blepharospasm, Myoclonus, Torticollis OMIM:616398
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech ORPHA:3327
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610992
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,... OMIM:606703
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Ventriculomegaly, Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hy... OMIM:617290
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Myoclonic seizure, Ventriculomegaly, Seizure, Epileptic spasm, Chorea, Myoclonus, Hyp... OMIM:614254
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait ORPHA:306511
Hemimegalencephaly
Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic s... ORPHA:99802
Juvenile Huntington Disease
Ventriculomegaly, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progre... ORPHA:248111
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Lateral ventricle dilatation,... ORPHA:208447
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Noct... OMIM:619725
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Frequent falls, Generalized ... OMIM:159950
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus OMIM:618201
Alexander Disease
Spasticity, Seizure, Dysmetria, Babinski sign, Hydrocephalus, Ataxia, Palatal tremor OMIM:203450
Caribbean Parkinsonism
Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apra... ORPHA:97355
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis ORPHA:391417
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal sign, ... OMIM:308350
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Myoclonus, Seizure OMIM:225753
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Seizure, Ataxia OMIM:612015
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:139485
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness,... ORPHA:79263
Peho-Like Syndrome
Ventriculomegaly, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Glycine Encephalopathy 1
Myoclonus, Seizure, Agenesis of corpus callosum OMIM:605899
Spinocerebellar Ataxia 17
Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia,... OMIM:607136
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Seizure, Ataxia ORPHA:324290
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Seizure, Abnormality of extrapyramidal motor function OMIM:604218
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Ventriculomegaly, Seizure, Generalized non-motor (absence) seizure, Chorea... ORPHA:485350
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti... OMIM:619913
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrap... ORPHA:13
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-... ORPHA:352582
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi... ORPHA:313772
Hyperekplexia 4
Hypertonia, Infantile spasms, Myoclonus, Seizure OMIM:618011
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia OMIM:619862
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c... OMIM:204200
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Dystonia 28, Childhood-Onset
Spasticity, Retrocollis, Myoclonus, Tremor, Torticollis OMIM:617284
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Abnormal pyrami... ORPHA:391411
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Babinski sign, Hyp... ORPHA:225154
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Seizure, Ataxia OMIM:620094
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Foxg1 Syndrome
Spasticity, Infantile spasms, Myoclonus, Agenesis of corpus callosum, Hyperkinetic movements, Bil... ORPHA:561854
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... OMIM:616640
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
Hyperekplexia 1
Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls OMIM:149400
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Myoclonus, Seizure, Ataxia OMIM:256730
Mitochondrial Complex I Deficiency, Nuclear Type 19
Ventriculomegaly, Seizure, Myoclonus, Rigidity, Athetosis OMIM:618241
Alzheimer Disease 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a... OMIM:607822
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Myoclonus, Seizure OMIM:618193
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Ventriculomegaly, Seizure, Infantile spasms, Myoclonus,... OMIM:620352
Ataxia-Telangiectasia-Like Disorder
Chorea, Dilated fourth ventricle, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor... ORPHA:251347
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia ORPHA:3197
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Athetosis, Clonic seizure, Dandy-Walker malformation OMIM:617235
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Spastic... ORPHA:401866
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head ... OMIM:618877
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys... ORPHA:276198
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure OMIM:609241
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Ventriculomegaly, Chorea, Infantile spasms, Hyperkinetic movem... OMIM:617493
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dysdi... ORPHA:254881
Narp Syndrome
Ventriculomegaly, Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia ORPHA:644
Spinocerebellar Ataxia 13
Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres... OMIM:605259
Alexander Disease Type I
Spasticity, Seizure, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor ORPHA:363717
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism... OMIM:606693
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,... ORPHA:53351
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia OMIM:618225
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Focal-onset seizure OMIM:618972
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Chore... OMIM:312170
Hyperekplexia 3
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Truncal ataxia OMIM:250620
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Seizure ORPHA:397933
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Seizure, Febrile seizure (within t... OMIM:619847
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly, Seizure, Myoclonus, Ataxia, Slurred speech OMIM:230650
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms... OMIM:614498
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Spastic tetraplegia, Ventriculomegaly, Facial-lingual fasciculatio... OMIM:617281
Dystonia 34, Myoclonic
Head tremor, Myoclonus, Hand tremor, Torticollis OMIM:619724
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Babinski sign, Apraxia OMIM:221770
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity OMIM:619057
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Ataxia, Dysdiadochoki... OMIM:618356
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia OMIM:618240
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnor... ORPHA:363400
Valinemia
Hyperkinetic movements OMIM:277100
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Clumsiness, Paraparesis, Lower limb... OMIM:617854
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Bi... OMIM:617600
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Ventriculomegaly, Infantile spasms, Myoclonus, Opisthotonus, Tonic... OMIM:615851
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... OMIM:618060
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic mov... OMIM:271980
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Seizure, Epileptic spasm, Myoclonus, Hypertonia, Spastic tetraparesis ORPHA:284417
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, Seizure, Rigidity OMIM:300673
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Seizure OMIM:619814
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia OMIM:252011
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Seizure, Abnormality of coordination, Myoclonus, Tremor, Rigid... ORPHA:442835
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Agenesis of corpu... OMIM:617669
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:231000
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu... OMIM:617282
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct... ORPHA:79279
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Agenesis of corpus callosum, V... ORPHA:500144
Sandhoff Disease, Infantile Form
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st... ORPHA:309155
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function ORPHA:356
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor ORPHA:363722
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia OMIM:607196
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset s... ORPHA:168491
Huntington Disease
Involuntary movements, Seizure, Chorea, Myoclonus, Rigidity, Babinski sign, Clumsiness, Clonus, B... ORPHA:399
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia ORPHA:1020
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity OMIM:600795
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Seizure, Dilated fourth ventricle, Myoclonus, Hypertoni... ORPHA:3078
Subependymal Nodular Heterotopia
Limb myoclonus, Seizure, Focal aware seizure, Partial agenesis of the corpus callosum, Focal-onse... ORPHA:101030
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Seizure ORPHA:941
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Intention tremor OMIM:616505
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... OMIM:612949
Spinocerebellar Ataxia Type 13
Seizure, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, Titubation ORPHA:98768
Posttransplant Acute Limbic Encephalitis
Myoclonus, Seizure, Ataxia ORPHA:163921
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Seizure, Myoclonus, Opis... OMIM:614969
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia, Spastic g... OMIM:620538
Lafora Disease
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... ORPHA:501
Riboflavin Transporter Deficiency
Tremor, Myoclonus, Seizure, Ataxia ORPHA:97229
Cog8-Cdg
Ventriculomegaly, Myoclonus, Seizure, Ataxia ORPHA:95428
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit... OMIM:220120
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Myoclonus, Status epilepticus, Seizure ORPHA:79096
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Myoclonus, Limb tremor, Torticollis ORPHA:420492
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
Autosomal Recessive Spastic Paraplegia Type 77
Seizure, Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, Lower limb spast... ORPHA:466722
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia OMIM:619738
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines... ORPHA:171695
Baker-Gordon Syndrome
Involuntary movements, Hyperkinetic movements, Ataxia, Athetoid cerebral palsy, Choreoathetosis OMIM:618218
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms OMIM:618374
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... OMIM:618598
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... OMIM:612953
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Clumsiness, Parkinsonism, Bilateral tonic-clonic seizure, Myocl... ORPHA:79264
Stiff-Person Syndrome
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls OMIM:184850
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Status epilepticus OMIM:616672
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Seizure OMIM:616158
3-Methylglutaconic Aciduria Type 7
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor... ORPHA:445038
Tay-Sachs Disease
Ventriculomegaly, Typical absence seizure, Seizure, Fasciculations, Incoordination, Myoclonus, Dy... ORPHA:845
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Seizure, Generalized non-motor (absen... OMIM:619229
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia OMIM:614299
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, C... ORPHA:199351
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... OMIM:605711
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Juvenile Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia, Generalized myoclonic s... ORPHA:93399
Glucocorticoid Deficiency 2
Myoclonic seizure, Focal motor seizure, Myoclonus, Spastic tetraparesis OMIM:607398
Mepan Syndrome
Spasticity, Chorea, Myoclonus, Ataxia ORPHA:508093
Adenylosuccinase Deficiency
Spasticity, Seizure, Hemiplegia, Myoclonus, Gait ataxia, Opisthotonus OMIM:103050
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Seizure, Pseudobulbar paralysis, Infantile spasms, My... ORPHA:268943
Neuraminidase Deficiency
Dysmetria, Myoclonus, Seizure, Slurred speech OMIM:256550
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations OMIM:619574
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... OMIM:613839
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Seizure OMIM:614462
Peho Syndrome
Myoclonus, Seizure OMIM:260565
Sialidosis Type 1
Seizure, Myoclonus, Tremor, Ataxia, Slurred speech ORPHA:812
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Generalized... OMIM:300672
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Myoclonus, Babinski sign, Limb hypertonia, Limb tremor, Torticollis, Exaggerated s... OMIM:608643
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Ataxia, Spastic tetr... OMIM:618321
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Seizure, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:364028
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Opisthotonus, Babinski sign,... OMIM:618076
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Infantile spasms, Myoclonus, Seizure OMIM:614261
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Choreoathet... OMIM:616271
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali... ORPHA:314655
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia OMIM:168601
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Spasticity, Seizure, Tremor, Hyperkinetic movements OMIM:300957
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk... ORPHA:157846
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Infantile Krabbe Disease
Spasticity, Seizure, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate ri... ORPHA:206436
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Tremor, Right hemiplegia, Ataxia, Status epilepticus OMIM:607426
Developmental And Epileptic Encephalopathy 100
Ventriculomegaly, Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within th... OMIM:619777
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Myoclonic seizure, Myoclonus, Seizure OMIM:614946
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Intention tremor OMIM:254900
Serotonin Syndrome
Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia ORPHA:43116
X-Linked Cerebral Adrenoleukodystrophy
Limb myoclonus, Seizure, Dysmetria, Hemiparesis, Ankle clonus, Hoffmann sign, Apraxia, Lower limb... ORPHA:139396
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Seizure ORPHA:369847
Orofaciodigital Syndrome Type 3
Spasticity, Myoclonus, Focal seizure with eyelid myoclonia, Oculomotor apraxia, Dandy-Walker malf... ORPHA:2752
Congenital Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Hydrocephalus, Ataxia ORPHA:93400
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Clonus, Ataxia, Nonprogressive ce... OMIM:301310
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Hypertonia, Seizure OMIM:236270
Fatal Familial Insomnia
Myoclonus, Ataxia OMIM:600072
Early Infantile Epileptic Encephalopathy
Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age ran... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei... OMIM:616973
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Upper limb spasticity ORPHA:457240
Japanese Encephalitis
Pill-rolling tremor, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 57
Myoclonus, Seizure OMIM:620167
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Ankle clonus, Hypertonia, Exaggerated st... OMIM:620423
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Seizure OMIM:614922
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Seizure, Ataxia OMIM:619167
Dystonia-Aphonia Syndrome
Myoclonus, Seizure ORPHA:412217
Molybdenum Cofactor Deficiency, Type B
Ventriculomegaly, Seizure, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hypert... OMIM:252160
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Myoclonus, Gait ataxia, Appendicular spasticity, Bilateral tonic-cl... OMIM:620451
Angelman Syndrome
Ataxia, Seizure, Infantile spasms, Myoclonus, Tremor, Atonic seizure, Atypical absence seizure, S... ORPHA:72
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Ventriculomegaly, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal... OMIM:301072
Optic Atrophy 11
Ventriculomegaly, Seizure, Dysmetria, Hyperkinetic movements, Gait apraxia, Ataxia, Athetosis OMIM:617302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Myoclonus, Seizure, Ataxia ORPHA:98794
Brain-Lung-Thyroid Syndrome
Involuntary movements, Incoordination, Chorea, Myoclonus, Intention tremor, Agenesis of corpus ca... ORPHA:209905
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Myoclonus, Seizure ORPHA:70595
Whipple Disease
Seizure, Myoclonus, Abnormal pyramidal sign, Hydrocephalus, Ataxia ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Myoclonus, Clonus, Status epilepticus, Spastic tetraplegia OMIM:619055
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms ORPHA:478029
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Ataxia OMIM:620089
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Molybdenum Cofactor Deficiency, Type A
Ventriculomegaly, Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Ventriculomegaly, Generalized non-motor (absence) seizure, Chorea, Infantile spasms, Myoclonus, A... ORPHA:404454
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia ORPHA:247262
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Seizure, Generalized-onset seizure, Infantile spasms, Hyperkinetic movements, Athetosis OMIM:612073
Leukodystrophy, Hypomyelinating, 10
Hyperkinetic movements, Babinski sign, Spasticity, Seizure OMIM:616420
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Myoclonic spasms ORPHA:36913
Hsd10 Disease, Infantile Type
Poor coordination, Seizure, Hyperkinetic movements, Spastic tetraparesis, Choreoathetosis, Spasti... ORPHA:391428
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Myoclonus, Intention tremor, Tremor, ... OMIM:208900
Neuroblastoma, Susceptibility To, 1
Myoclonus, Ataxia OMIM:256700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia OMIM:618426
Immunodeficiency 23
Cortical myoclonus, Myoclonus, Ataxia OMIM:615816
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Paternal Uniparental Disomy Of Chromosome 1
Myoclonus, Seizure ORPHA:251004
Farber Disease
Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis ORPHA:333
Niemann-Pick Disease Type C
Seizure, Cataplexy, Generalized-onset seizure, Speech apraxia, Chorea, Myoclonus, Focal-onset sei... ORPHA:646
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Kinsship Syndrome
Ventriculomegaly, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seiz... OMIM:619297
Kufor-Rakeb Syndrome
Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Hyperto... ORPHA:306674
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Seizure, Myoclonus, Gait ataxia, Dysmetria, Babinski sign, Progressive gait ataxia, Ataxia, Frequ... OMIM:607459
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action tremor, Dysmetria, H... OMIM:615273
Nmda Receptor Encephalitis
Involuntary movements, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Focal-onset seizure... ORPHA:217253
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Seizure OMIM:246450
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert... OMIM:203700
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Lower limb spasticity, Clonus, Bilateral tonic-clonic seizure, Myoclonic spasms... ORPHA:447997
Melas
Seizure, Abnormal central motor function, Myoclonus, Agenesis of corpus callosum, Hemiparesis, Bi... ORPHA:550
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Seizure, Myoclonus, Spastic hemiparesis, Ataxia ORPHA:20
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Myoclonic seizure OMIM:620469
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Seizure, Myoclonus, Torticollis, Ataxia, Spastic tetraplegia OMIM:609136
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Myoclonic spasms ORPHA:94089
Pgm3-Cdg
Cortical myoclonus, Myoclonus, Seizure, Ataxia ORPHA:443811
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements ORPHA:93958
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Truncal ataxia OMIM:300243
Neuroblastoma
Myoclonus, Ataxia ORPHA:635
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Seizure, Myoclonus, Hyperkinetic movements, Hypertonia, Choreoathetosis ORPHA:17
Ethylene Glycol Poisoning
Myoclonus, Slurred speech, Seizure, Ataxia ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Joubert Syndrome 1
Ataxia, Oculomotor apraxia, Enlarged fossa interpeduncularis, Hemifacial spasm OMIM:213300
Lathosterolosis
Myoclonus, Seizure ORPHA:46059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventriculomegaly, Myoclonus, Tetraplegia, Seizure OMIM:618278
Developmental And Epileptic Encephalopathy 89
Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Hyperkinetic movements, Bilateral t... OMIM:619124
Leigh Syndrome
Spasticity, Involuntary movements, Seizure, Chorea, Infantile spasms, Agenesis of corpus callosum... ORPHA:506
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, Ataxia, Truncal ataxia, Athetosis OMIM:615356
Scorpion Envenomation
Seizure, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic movements, Ataxia ORPHA:466677
Sialuria
Hyperkinetic movements, Seizure ORPHA:3166
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Spasticity, Seizure, Fasciculations, Myoclonus, Hypertonia ORPHA:284339
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Seizure, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Bil... OMIM:617799
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Focal motor seizure, Myoclonus, Generalized myoclonic seizure ORPHA:3063
Listeriosis
Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia ORPHA:533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Spasticity, Seizure, Myoclonus, Hydrocephalus OMIM:253280
Autosomal Dominant Hypocalcemia
Cortical myoclonus ORPHA:428
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb s... OMIM:616462
Meningioma
Seizure, Hemifacial spasm, Abnormal central motor function, Hemiparesis, Hydrocephalus, Ataxia, F... ORPHA:2495
Pseudohypoparathyroidism Type 1A
Involuntary movements, Hypocalcemic seizures, Choreoathetosis, Myoclonic spasms ORPHA:79443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Ventriculomegaly, Seizure, Agenesis of corpus callosum, Hyperkinetic movements, Abnor... ORPHA:468631
Tick-Borne Encephalitis
Tongue fasciculations, Generalized-onset seizure, Speech apraxia, Incoordination, Tremor, Hyperki... ORPHA:297
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Myoclonic spasms ORPHA:79444
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myo... ORPHA:438213
Choreoacanthocytosis
Blepharospasm, Poor motor coordination, Involuntary movements, Lateral ventricle dilatation, Seiz... ORPHA:2388
Doors Syndrome
Dandy-Walker malformation, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic 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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