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Gene: Nhlrc1 MGI:2145264

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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:
NHL repeat containing 1
Synonyms:
B230309E09Rik,  Malin,  EPM2B

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 Nhlrc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nhlrc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Confusio... ORPHA:501

The table below shows human diseases predicted to be associated to Nhlrc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Lafora bodies, Seizure, Myoclonus, Mental deterioration ORPHA:324290
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Seizure, Progressive cerebellar ataxi... OMIM:616640
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Confusio... ORPHA:501
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... ORPHA:725
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:208700
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Leukoencephalopathy, Cerebral atroph... OMIM:204300
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... ORPHA:542310
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal-onset ... OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... ORPHA:79262
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Incoordination, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration OMIM:616187
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia OMIM:125370
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Reduced cerebral white matter volume, Tonic sei... OMIM:618396
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Cognitive impairment, Atypical absence se... OMIM:300388
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Dementia, Abnorm... OMIM:607822
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Reduced cerebral white matter volume, Tonic seizure, Seizure, Hypoplasia of the ... OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Dementia, Abnor... OMIM:162350
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... OMIM:615924
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Microcephaly, Myoclonic seizure, Abnormal cerebral white matter morphology, Atypical absence seiz... OMIM:618596
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, A... OMIM:607317
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia, Cerebral cort... OMIM:614860
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemip... OMIM:606777
Landau-Kleffner Syndrome
Speech apraxia, Short attention span, Bilateral tonic-clonic seizure with generalized onset, Bila... ORPHA:98818
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Progressive neurologic deterioration, Microcephaly, Tremor, Choreoathetos... OMIM:261630
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Microcephaly, Progressive psychomotor... ORPHA:263516
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Thick cerebral cortex, Generalized-onset seizure, Epileptic spasm, Abn... ORPHA:65683
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Mental deterioration, Myoclonus, Atypical ab... ORPHA:2382
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Generalized non-motor (absence... OMIM:619157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Myocloni... OMIM:616139
Waisman Syndrome
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure,... OMIM:311510
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Seizure, Myoclonus, Atypical absence... OMIM:617391
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi... OMIM:616230
Hemimegalencephaly
Epileptic spasm, Pachygyria, Focal motor seizure, Hemimegalencephaly, Focal tonic seizure, Seizur... ORPHA:99802
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Ankle flexion contracture, Microcephaly, Cerebral atrop... OMIM:616657
Developmental And Epileptic Encephalopathy 56
Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:617665
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... ORPHA:2590
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Hypoplasia of the c... OMIM:611721
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
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Developmental And Epileptic Encephalopathy 16
Dystonia, Microcephaly, Clonic seizure, Cerebral atrophy, Hemiparesis, Secondary microcephaly, My... OMIM:615338
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sign, Dementi... OMIM:616840
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Confusion, Gait ataxia, Hemiparesis, Dementia, Myoclonus, Memor... OMIM:123400
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Microcephaly, Tonic seizure... OMIM:619606
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Pick Disease Of Brain
Polyphagia, Irritability, Gliosis, Inappropriate laughter, Disinhibition, Emotional blunting, Neu... OMIM:172700
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Generalized myoclonic seizure, Microcephaly, Abnormal pyramidal sign, H... ORPHA:352596
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Developmental And Epileptic Encephalopathy 14
Microcephaly, Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Hypoplas... OMIM:614959
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Developmental And Epileptic Encephalopathy 31A
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypica... OMIM:616346
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Confusion, Neurofibrillary tangles, Seizure, Hypertonia, Dementia, Myoclonu... ORPHA:1020
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia... ORPHA:71277
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclon... OMIM:618285
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Microcephaly, Focal-onset ... OMIM:619616
Developmental And Epileptic Encephalopathy 43
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, Babinski sign, Leukoencephalopathy, Seizure, Dement... OMIM:618193
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Cerebral atrophy, Dysmetria, Clumsiness, Seizu... ORPHA:79263
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Dystonia 28, Childhood-Onset
Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cogn... OMIM:617284
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, M... ORPHA:208447
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal gang... ORPHA:97355
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclon... OMIM:616409
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Leukoencephalopathy, Depression, Abnormal cerebral white matter morpholo... OMIM:221820
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkins... OMIM:607060
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Motor deterio... OMIM:256731
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Striatal T2 hyperintensit... OMIM:500003
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus, Cerebral atrophy OMIM:600143
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Thin corpus callosum, Myoclonus OMIM:619651
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... ORPHA:171695
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Confusion, Rigidity, Chorea, Dysmetria,... OMIM:607136
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Oculogyric crisis, Microcephaly, Chorea, Cerebral atrophy, Myoclonic seizure, Se... OMIM:614254
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Dementia, Myoclonus, Generalize... OMIM:301020
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Hypoplasia of the corpus callosum, Cognit... ORPHA:306511
Alexander Disease Type I
Ataxia, Palatal tremor, Abnormal pyramidal sign, Spasticity, Abnormal cerebral white matter morph... ORPHA:363717
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Seizure, Congenital contracture, Gliosis, Myoclonus, Dysphagia OMIM:225753
Lipoid Proteinosis Of Urbach And Wiethe
Bilateral intracerebral calcifications, Generalized non-motor (absence) seizure, Temporal lobe ca... OMIM:247100
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Abnormal cer... ORPHA:248111
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Leukoencephalopathy, Seizure, Gliosis, Global brain ... OMIM:236792
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Cerebral atrophy, Myoclonic seizu... OMIM:618497
Gerstmann-Straussler Disease
Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, ... OMIM:137440
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Microcephaly, Seizure, Myoclonic absence seizure OMIM:612621
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, Secondary microcephaly, Myoclonus, Dystonia, Spasticity OMIM:617829
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, Cortical dysplasia, Spastic tetraplegia, Seizure, Myoclonus, Attention d... OMIM:619971
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:105550
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Temporal cortical ... ORPHA:100070
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus, Cerebral atrophy OMIM:204500
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... ORPHA:95434
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy OMIM:617065
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Limb tremor, Focal tonic seizure, Seizure, Hypertonia, Myoclonus, Frontal cortical atrophy OMIM:300699
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Ge... ORPHA:485350
Huntington Disease
Cerebellar atrophy, Depression, Seizure, Gliosis, Neuronal loss in central nervous system OMIM:143100
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Bilateral tonic-clonic seizure with generalized onse... OMIM:619028
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Diaminopentanuria
Seizure, Neurodegeneration OMIM:222350
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Dementia, Tongue fasciculations, Myoclonus, Generalized myoclo... OMIM:159950
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Dysmetria... OMIM:610217
Hsd10 Disease
Short attention span, Ataxia, Microcephaly, Tremor, Rigidity, Frontotemporal cerebral atrophy, Ch... ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Microcephaly, Seizure, Bruxism OMIM:615493
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Cerebral cortex with... ORPHA:204
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Cogwh... OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly, Hypomimic face OMIM:608443
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Microcephaly, Simplified gyral patter... OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Torticollis, Aggressive behavior, Depression, Lower limb hypertonia, Gliosis,... OMIM:618369
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona... ORPHA:275872
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Paraparesis, Choreoath... ORPHA:726
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Parkinsonism, Cerebral atrophy, Seizur... OMIM:204200
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Myoclonus, Dystonia, Mental deter... OMIM:168601
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... OMIM:617810
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Cerebral dysmyelination, Microcephaly, Cor... ORPHA:101070
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Tonic seiz... OMIM:617711
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... OMIM:614487
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Hypermelanotic macule, Microcephaly, Choreoathetosis, Status epil... OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Ataxia, Cerebral atrophy, Seizure, Secondary microcephaly, Myoclonus, ... OMIM:256730
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Hyperkine... ORPHA:561854
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism ... ORPHA:199351
Parkinson Disease 21
Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Lewy bodies OMIM:614251
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis, Simplified gyral pattern OMIM:618328
Dementia, Lewy Body
Lewy bodies, Parkinsonism, Dementia OMIM:127750
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Proximal amyotrophy, Degeneration of anterior horn cells, Gliosis, Hyperglyc... OMIM:604484
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Basal g... ORPHA:225154
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, Seizure, Progressive ... ORPHA:139485
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Microcephaly, Generalized non-motor (absence) ... ORPHA:467166
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Leukoencephalopathy, Spasticity OMIM:618242
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Neuronal loss in the cerebral co... ORPHA:168486
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Babinski sign, General... OMIM:618170
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia,... OMIM:168600
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Seizure, H... OMIM:616281
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cogn... OMIM:605259
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Gliosis, Myoclonus, Neuronal loss in central nervous system OMIM:604218
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Neuroferritinopathy
Caudate atrophy, Writer's cramp, Chorea, Subcortical dementia, Focal dystonia, Abnormal caudate n... ORPHA:157846
Alzheimer Disease 2
Neurofibrillary tangles, Dementia, Parkinsonism OMIM:104310
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Cerebral dysmyelination, Microcephaly, Myopathy, Dysphagia, Arthrogrypo... OMIM:201550
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterio... ORPHA:254881
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Frequent falls, Lewy bo... ORPHA:75567
Focal Cortical Dysplasia, Type Ii
Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Hemiparesis, Focal impa... OMIM:607341
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Memory impairment, Dyssynergia, Oromandibular dystonia, Dysmetria,... ORPHA:101
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Memor... OMIM:608907
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity, Seizure, Pigmentary retinopathy... OMIM:252011
Congenital Disorder Of Glycosylation, Type In
Ataxia, Microcephaly, Cerebral atrophy, Seizure, Myoclonus, Spasticity OMIM:612015
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Lissencephaly, Myoclonus, Hypoplasia of the corpus callosum, Stat... OMIM:617507
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Dementia, Parkinsonism OMIM:104300
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hyperki... OMIM:271980
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Microcephaly, Status epilepticus, Myoclonus, Spasticity, Ce... OMIM:618201
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, H... ORPHA:289266
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis, Aggressive behavior OMIM:606688
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Focal motor seizure, Se... ORPHA:95232
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Frontotemporal dementia, Babinski sign, Myoclonus, Dystonia, Memory impairment, Cerebra... OMIM:600795
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi... ORPHA:35878
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Partial agenesis of the corpus ca... ORPHA:79243
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Dysphagia OMIM:300857
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... OMIM:615095
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive ps... ORPHA:363400
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Tonic seizure, Microcephaly, Infantile spasms, Focal-onset seizur... OMIM:308350
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Menta... OMIM:614298
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Huntington Disease
Bradyphrenia, Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Ce... ORPHA:399
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive imp... OMIM:607876
Inherited Creutzfeldt-Jakob Disease
Short attention span, Progressive extrapyramidal muscular rigidity, Confusion, Spastic hemiparesi... ORPHA:282166
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus, Primary microcephaly ORPHA:166063
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Athetosis, Complex ... ORPHA:31709
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Microcephaly, Abnormal cerebral white matter morphology, Seizure, Congenital contra... OMIM:277470
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Truncal ataxia, Cerebral... OMIM:618877
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Insulin ... OMIM:214150
Myoclonus, Intractable, Neonatal
Microcephaly, Clonic seizure, Chorea, Athetosis, Myoclonus, Hypoplasia of the corpus callosum, Pr... OMIM:617235
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure, Microcephaly OMIM:615553
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria, Progressive neurologic deterioration OMIM:618251
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Focal-onset seizure, Typical abs... ORPHA:168491
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Focal motor status epilepticus, Microcephaly, Focal-onset seizure, Gliosis, ... OMIM:614498
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Apraxia, Me... OMIM:606889
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus, Progressive microcephaly OMIM:610090
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Microcephaly, Abnormal fear-induced behavior... ORPHA:208441
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure wit... ORPHA:599373
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Occipital cortical atrophy, Focal impa... ORPHA:411986
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Lewy bodies OMIM:619133
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity OMIM:616494
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity, Pachygyria OMIM:620094
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory impairment OMIM:619132
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Secondary microcephaly, Myoclonus OMIM:610992
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Microcephaly, Chorea, Ce... OMIM:617493
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Ataxia, Retinal pigment epithelial mottling, Babinsk... ORPHA:644
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Hereditary Late-Onset Parkinson Disease
Impulsivity, Depression, Gliosis, Agitation, Low frustration tolerance, Dysphagia, Lewy bodies, C... ORPHA:411602
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Cereb... ORPHA:442835
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Generalized myoclonic seizure, Neurodegeneration, Cerebral atrophy OMIM:610951
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral atrophy, Gait ataxi... OMIM:611302
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Fatty replacemen... ORPHA:1320
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Seizure, Myoclonus, Cognitive impairment, Dystonia, Memory impairment ORPHA:163921
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami... ORPHA:397946
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Periventricular leukomalacia, Gliosis, Microcephaly ORPHA:357225
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Microcephaly, Ragged-red muscle fibers, Seizure, Myo... OMIM:616239
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Lower limb spasticity, Short attention span, Ataxia, Paraparesis, Oromotor apraxia,... OMIM:617854
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis OMIM:613002
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Periventricular white matter hyperintensities, Attention def... OMIM:301008
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast... ORPHA:313772
Leukoencephalopathy With Vanishing White Matter 1
Cessation of head growth, Leukoencephalopathy, Seizure, Gliosis, Emotional lability OMIM:603896
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... OMIM:301107
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Progressive Supranuclear Palsy
Impulsivity, Abnormal synaptic transmission, Depression, Gliosis, Dysphagia, Neuronal loss in cen... ORPHA:683
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Brad... ORPHA:13
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Abnormal periventricular white matter morphology, Generalized non-motor (absence) seizure OMIM:618992
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Tremor, Focal-onset ... OMIM:619092
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Mental deterioration, Cerebral at... OMIM:616672
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Spasticity, Intention tremor OMIM:117300
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Parkinsonism, Dementia OMIM:605543
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral t... ORPHA:352582
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Abnormal co... ORPHA:98756
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Sec... OMIM:617290
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Thin corpus callosum, Cerebral atrophy, Focal impaired a... OMIM:616521
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebral atrophy, Clumsine... ORPHA:79264
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Cerebral atrophy OMIM:618011
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absenc... OMIM:300558
Childhood-Onset Spasticity With Hyperglycinemia
Short attention span, Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, My... ORPHA:401866
Abeta Amyloidosis, Iowa Type
Memory impairment, Dementia, Myoclonus ORPHA:324708
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Microcephaly, Generalized non-motor (absence) seizure, Primary microcephaly OMIM:616033
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bilateral basal ganglia lesions, Gliosis, Microcephaly OMIM:615119
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ... OMIM:605899
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Depression, Seizure, Gliosis, Abnormal repetitive m... ORPHA:457240
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Tremor, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, Seizure, Myoclonus,... OMIM:312170
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Abnormal basal ganglia morphology, Depression, Seizure, Gliosis... ORPHA:157941
Gaucher Disease, Type Iii
Ataxia, Progressive neurologic deterioration, Dementia, Myoclonus, Spastic paraparesis, Generaliz... OMIM:231000
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Microcephaly, Cerebral atrophy, Tetraplegia, Choreoathetosis, Sei... OMIM:616034
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Diffuse leukoencephalopathy, Dysmetria, Myoclonus... OMIM:619780
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal motor neuron morpho... ORPHA:52430
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Microcephaly, Seizure, Gliosis, Hypoplasia of the corpus callosum, Limb hyper... OMIM:612936
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsi... OMIM:604317
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Agenesis of cor... OMIM:250620
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Dementia, Abnormality of extrapyramidal motor function, Cognitive impairment, Mental... ORPHA:356
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Striatal T2 hyperintens... ORPHA:508093
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... OMIM:619854
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Microcephaly, Tonic seiz... OMIM:615851
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Microcephaly, Bilateral ... OMIM:619428
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Tremor, Limb myoclonus, Gait ataxia, Pill-roll... ORPHA:3095
Liang-Wang Syndrome
Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epilepticus, Dystonia OMIM:618729
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Microcephaly, Tremor, Poor coordination, Eating-induced seizur... ORPHA:544254
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Neuronal loss in basal ganglia, Cerebral atrophy, Myopathy, Gliosis, Neuronal... OMIM:604377
Niemann-Pick Disease, Type C1
Ataxia, Neurofibrillary tangles, Gait ataxia, Seizure, Dementia, Dystonia, Cataplexy, Spasticity OMIM:257220
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Microcephaly, Aggressive behavior, Elbow flexion contracture, Simplified gyral pat... OMIM:619470
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Clonus, Microcephaly, Babinski sign, Spastic tetraplegia, Cerebral... OMIM:619847
Developmental And Epileptic Encephalopathy 110
Microcephaly, Chorea, Generalized non-motor (absence) seizure, Hypoplasia of the corpus callosum,... OMIM:620149
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1929
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat... OMIM:309548
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Seizure, Athetosis, Secondary microcephaly, Myoclonus OMIM:618241
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Seizure, Gliosis, Neurodegeneration, Neuronal loss in centr... OMIM:256600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... OMIM:613839
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure,... ORPHA:395
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... ORPHA:251347
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Reduced cerebral white matter volume, Infan... OMIM:620352
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Depression, Abnormal cerebral white matter morphology, Seizure, Gliosis OMIM:300957
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Microcephaly, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonu... OMIM:618356
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus, Cerebral atrophy OMIM:619057
Lissencephaly, X-Linked, 2
Seizure, Gliosis, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300215
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Myoclonic seizure, ... OMIM:614946
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Aggressive behavior, Cerebral atrophy, Abnormal cerebral white matter morpholog... OMIM:618321
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Spastic tetraparesis, Simplified gyral pattern, Seizure, Hypertonia, Lissencepha... ORPHA:284417
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Satb2-Associated Syndrome Due To A Pathogenic Variant
Abnormal cerebral white matter morphology, Typical absence seizure, Seizure, Attention deficit hy... ORPHA:576283
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical... ORPHA:79351
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia OMIM:619724
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Diffuse leukoencephalopathy, Depression, Pseudobulbar paralysis, Gliosis OMIM:169500
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degene... OMIM:601104
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic mo... OMIM:233910
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... ORPHA:845
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized... OMIM:234500
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Seizure, Gliosis, Emotional lability OMIM:256000
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis, Cerebellar vermis atrophy OMIM:213200
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Hypoplasia of... OMIM:618060
Riboflavin Transporter Deficiency
Ataxia, Tremor, Seizure, Myoclonus, Cerebral cortical atrophy, Iris hypopigmentation ORPHA:97229
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Attention deficit hyperactivity disorder... ORPHA:64280
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Dystonia, Partial agenesis of the corpus callosum, Vocal cord paralysis, Seizure... ORPHA:500144
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis, Cerebral edema OMIM:608033
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ne... OMIM:609454
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Diffuse cerebral atrophy, Hypointensity of cere... ORPHA:206436
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Fo... OMIM:618354
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Cortical dysplasia, Generalized non-motor (absence) seizure, Seizure, H... OMIM:617201
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Microcephaly, Simplified gyral pattern, Seizure, Myoclo... OMIM:617669
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Harel-Yoon Syndrome
Spasticity, Ataxia, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... ORPHA:98795
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Myoclonus, Hypoplasia of the corpus callosum, Tetraparesis... OMIM:618972
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Epileptic spasm, Bilateral... OMIM:617193
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebral calcification, Bilateral tonic-clonic seizure, Facial-ling... OMIM:617281
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Myoclonus, Polymicrogyria, Progressive microcephaly OMIM:300673
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements, Progressive microcephaly ORPHA:397933
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Secondary microceph... OMIM:619835
D-Glyceric Aciduria
Microcephaly, Chorea, Seizure, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Progress... ORPHA:941
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Tremor,... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcepha... OMIM:619827
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Developmental And Epileptic Encephalopathy 101
Seizure, Opisthotonus, Myoclonus, Microcephaly OMIM:619814
Alexander Disease Type Ii
Ataxia, Rigidity, Palatal tremor, Babinski sign, Periventricular cysts, Spasticity, Spastic parap... ORPHA:363722
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Second... OMIM:612949
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Cerebral cortical atrophy, Truncal ataxia OMIM:113610
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Basal ganglia calcification, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, M... OMIM:616505
Phenylketonuria
Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Seizure, Ir... OMIM:261600
Nicolaides-Baraitser Syndrome
Epileptic spasm, Microcephaly, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:3051
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles, Seizure, Dementia, Dystonia, Cataplexy, Spasticity OMIM:607625
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Cerebral atrophy, Hyperkinetic movements, Periventricular white matter hyperint... OMIM:618374
Dystonia-Aphonia Syndrome
Generalized dystonia, Cerebral atrophy, Seizure, Myoclonus, Cognitive impairment, Oromandibular d... ORPHA:412217
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Rhabdomyolysis, Seizure, Fatigable weakn... ORPHA:26791
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Short attention span, Ataxia, Generalized clonic seizure, Microcephaly, Tr... OMIM:619229
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, ... OMIM:176500
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Hyperprolinemia Type 2
Early onset absence seizures, Short attention span, Generalized-onset seizure, Confusion, Seizure... ORPHA:79101
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hypertonia,... OMIM:614969
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Generalized non-mo... ORPHA:457351
Subependymal Nodular Heterotopia
Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ... ORPHA:101030
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Microcephaly, Spastic tetraplegia, Opisthotonus, Seizure, Focal c... OMIM:220120
Galloway-Mowat Syndrome 10
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Secondary microcephaly, Myoclonus, Prim... OMIM:619609
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Seizure, Hypopla... ORPHA:500180
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Short attention span, Ataxia, Confusion, Spastic tetraparesis, Hoffmann si... ORPHA:139396
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Abnormal basal ganglia morphology, Opisthotonus, Cerebral atrophy, Chore... ORPHA:445038
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hypopigmentation of hair, Ataxia, Tremor, Cessation of head growth, Seizure... ORPHA:98794
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of t... OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... OMIM:616973
Microcephaly, Amish Type
Limb hypertonia, Partial agenesis of the corpus callosum, Myoclonus, Primary microcephaly OMIM:607196
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... OMIM:609924
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Ataxia, Tonic seizure, Microcephaly, Rigidity, Chorea, Generalized non-mot... OMIM:300260
Peho Syndrome
Seizure, Myoclonus, Hypoplasia of the corpus callosum, Pachygyria, Polymicrogyria, Progressive mi... OMIM:260565
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus, Cerebral atrophy OMIM:619060
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz... ORPHA:382
Pyridoxal Phosphate-Responsive Seizures
Microcephaly, Seizure, Hypertonia, Status epilepticus, Myoclonus ORPHA:79096
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Kleefstra Syndrome Due To A Point Mutation
Microcephaly, Abnormal cerebral white matter morphology, Self-injurious behavior, Seizure, Gliosi... ORPHA:261652
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Cerebellar atrophy, Neurona... ORPHA:506
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Self-injurious behavior, Seizure, Brain atrophy, Bruxism, Abnormal r... OMIM:618718
Serotonin Syndrome
Clonus, Confusion, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Mental deterioration, Delirium ORPHA:43116
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Spastic tetraplegia, Cerebral atrophy, Seizure, Myoclonus, Cerebral edema OMIM:614462
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Vitiligo OMIM:184850
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr... OMIM:618218
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Seizure... OMIM:252160
Adenylosuccinase Deficiency
Microcephaly, Cerebral atrophy, Gait ataxia, Opisthotonus, Seizure, Myoclonus, Hemiplegia, Spasti... OMIM:103050
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Confluent hyperintensity of cerebral white matter ... ORPHA:280210
Angelman Syndrome
Hypopigmentation of the skin, Ataxia, Cerebral dysmyelination, Microcephaly, Tremor, Infantile sp... ORPHA:72
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Seizure, Gliosis, Cerebral edema ORPHA:88619
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Microcephaly, Focal-onset seizure, Cortical dysplasia, P... ORPHA:268943
Machado-Joseph Disease
Cerebellar atrophy, Distal amyotrophy, Gliosis, Dysphagia OMIM:109150
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Globus pallidus calcification, Bilateral tonic-clonic seizure, Aggressive behavior... OMIM:620292
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Kufor-Rakeb Syndrome
Eyelid apraxia, Short attention span, Parkinsonism, Oculogyric crisis, Confusion, Rigidity, Babin... ORPHA:306674
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Leukoencephalopathy, Opisthotonus, Abnormality of extr... OMIM:605711
Combined Oxidative Phosphorylation Deficiency 57
Reduced cerebral white matter volume, Cerebral atrophy, Seizure, Secondary microcephaly, Myoclonu... OMIM:620167
Japanese Encephalitis
Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Hypertonia, Respirato... ORPHA:79139
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Microcephaly, Babinski sign, Generalized non-motor (absence) seiz... OMIM:615802
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Infantile spasms, Simplified gyral pattern, Cerebral atrophy, Seizure, Myoc... OMIM:614261
Fatal Familial Insomnia
Cerebral cortex with spongiform changes, Ataxia, Myoclonus, Dementia OMIM:600072
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Seizure, Diffuse cerebral atrophy, Gliosis, Subcortical white matter calcifications ORPHA:3240
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus ORPHA:98768
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hyperkine... OMIM:616271
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (abs... ORPHA:435638
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Irritabili... ORPHA:3077
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... ORPHA:646
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Pol... OMIM:619777
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, C... OMIM:615398
Valinemia
Hyperkinetic movements OMIM:277100
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Absent septum pellucidum, Microcephaly, Generalized non-motor (absence) seizure,... ORPHA:96147
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Reduced cerebral white matter volume, Infantile spasms, Bab... OMIM:618076
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Microcephaly, Flexion contra... OMIM:301072
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Dpm1-Cdg
Early onset absence seizures, Ataxia, Cerebral atrophy, Seizure, Secondary microcephaly, Generali... ORPHA:79322
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Hypoglycemia, Gliosis, Glycosuria OMIM:231680
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Mental deterio... OMIM:254900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Myoclonic ... OMIM:614207
Developmental And Epileptic Encephalopathy 2
Multifocal seizures, Generalized-onset seizure, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Cerebral white matter atrophy, Hyperactivity, Microcephaly, Corpus callosum a... ORPHA:369939
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Corpus callosu... ORPHA:228360
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Decreased muscle mass, Bilateral tonic-clonic seizure, Cerebral dysmyelinatio... OMIM:261515
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Seizure, Myoclonus, Spasticity OMIM:246450
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebellar gliosis, Flexion contracture, Abnormal... ORPHA:35069
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Abnormal cerebral white matter morphology, Generalized non-motor (absence) seizure, Lower limb sp... ORPHA:363686
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Generalized myoclonic seizure, Facial hypotonia, Infantile spasms, Atonic sei... ORPHA:404454
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... OMIM:610042
Coenzyme Q10 Deficiency, Primary, 1
Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right hemiplegia OMIM:607426
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... OMIM:620224
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Confus... ORPHA:217253
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Microcephaly, Thick corpus callosum, Gener... OMIM:617798
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus ORPHA:812
Abeta Amyloidosis, Dutch Type
Cerebral calcification, Cerebral amyloid angiopathy, Seizure, Dementia, Mental deterioration ORPHA:100006
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Microcephaly, Generalized non-motor (absence) seizure, Small cerebral cortex, Seizure, Hypoplasia... OMIM:617360
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Hypoplasia... ORPHA:364028
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G... OMIM:300912
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Microcephaly, Poor coordination, Spastic diplegia... ORPHA:391428
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... ORPHA:93399
Brain-Lung-Thyroid Syndrome
Short attention span, Incoordination, Ataxia, Involuntary movements, Dystonia, Microcephaly, Chor... ORPHA:209905
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abnormal neu... ORPHA:163681
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Aggressive behavior, Thick corpus callosum, Seizure, Gliosis, At... OMIM:618846
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Seizure, Hypertonia, Myoclonus, Spasticity ORPHA:3078
Cog8-Cdg
Seizure, Ataxia, Myoclonus, Progressive microcephaly ORPHA:95428
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements, Cognitive impairment ORPHA:209970
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Seizure, Inappropriate behavior, Neurodegenerat... ORPHA:309246
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypoglycemia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atrophy, Dep... OMIM:124000
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Aggressive behavior, Abnormal globus pallidus morphology, Tendon xanthomatosi... ORPHA:909
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Hypertonia, Hyperkinetic movements, Cerebral cortical atrophy OMIM:236270
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Microcephaly OMIM:612337
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Tongue fasciculations, Hypoplasia of the corpus callosum, Myoclonus, Pachygyria, Cerebra... OMIM:614922
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Macroglossia, Gliosis, Cerebral cortical atrophy OMIM:248500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Seizure, Secondary microcephaly, Myoclonus, Dystonia OMIM:619167
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Infantile spasms, Abnormal basal ganglia morphology, Cerebral atrophy,... OMIM:612073
Leukodystrophy, Hypomyelinating, 10
Reduced cerebral white matter volume, Babinski sign, Cerebral atrophy, Seizure, Hyperkinetic move... OMIM:616420
Melas
Short attention span, Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Ap... ORPHA:550
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Seizure, Myoclonus, Cognitive impairment, Memory impairment ORPHA:70595
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Self-injurious behavior, Seizu... ORPHA:449291
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Ataxia, Myoclonus, Mottled pigmentation of photoexposed areas OMIM:560000
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Myoclonic spasms, Confusion, Hypocalcemic seizures ORPHA:36913
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Cerebral atrophy, Seizure, Gliosis, Hypoplasia of the corpus callosum, Myoclonic sp... OMIM:252150
Optic Atrophy 11
Ataxia, Microcephaly, Gait apraxia, Dysmetria, Leukoencephalopathy, Seizure, Athetosis, Hyperkine... OMIM:617302
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral a... OMIM:203700
Weaver Syndrome
Bilateral tonic-clonic seizure, Absent septum pellucidum, Slurred speech, Generalized non-motor (... OMIM:277590
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
Congenital Disorder Of Deglycosylation 1
Restlessness, Facial hypotonia, Oral-pharyngeal dysphagia, Microcephaly, Intrinsic hand muscle at... OMIM:615273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Absent septum pellucidum, Microcephaly, Flexion contracture, Elbow flexion contr... OMIM:300868
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... ORPHA:93958
9P13 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Cafe-au-lait spot, Myoclonus, Hand tremor ORPHA:324313
Ataxia-Telangiectasia
Ataxia, Microcephaly, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar at... OMIM:208900
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Facial palsy, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizu... OMIM:615873
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Seizure, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, Ataxia, White eyebrow, Cerebral dysmyelination, Spastic tetraplegia... OMIM:609136
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure, Lissencephaly, Cognitive i... ORPHA:258
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Retinal pigment epithelial mottling, Babinski sign, Dysmetria, Gait ataxia, Seizure, Prog... OMIM:607459
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Short attention span, Microcephaly, Leukoencephalopa... ORPHA:17
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Microcephaly, Focal-onset seizure, Generali... OMIM:619297
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Microcephaly, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Microcephaly, Aggressive behavior, Typical absence seizure, Seizu... ORPHA:268261
Congenital Sialidosis Type 2
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements, Microcephaly ORPHA:289522
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Progressive psychomotor deterioration, Myoclonus ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 2
Seizure, Gliosis OMIM:618222
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Abnormal cerebral whit... ORPHA:506358
Cockayne Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral calcification, Diabetes mellitus, Cerebral ... ORPHA:191
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Hypoglycemia, Microcephaly, Partial agenesis of the corpus callosum, S... OMIM:220111
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms, Primary microcephaly ORPHA:478029
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Seizure, Hypertonia, Myoc... OMIM:618426
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia ORPHA:2752
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Myoclonus, Microcephaly ORPHA:1352
Whipple Disease
Generalized hyperpigmentation, Ataxia, Abnormal pyramidal sign, Seizure, Myoclonus ORPHA:3452
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Oculomotor apraxia ORPHA:247262
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Myoclonus, Cognitive impairment, Limb myoclonus ORPHA:1183
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Cortical dysplasia, Polymicrogyria, Typical absence seizure OMIM:618343
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Seco... ORPHA:447997
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... ORPHA:466943
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Myoclon... OMIM:619124
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Microcephaly, Leukoencephalopathy, Seizure, Myoclonus, Spasticity ORPHA:20
Ethylene Glycol Poisoning
Ataxia, Confusion, Slurred speech, Seizure, Myoclonus, Cerebral edema ORPHA:31826
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, L... ORPHA:100924
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Seizure, Limb muscle weakness, Abnormal oligodendroglia morphology ORPHA:217260
Cutis Laxa, Autosomal Recessive, Type Iid
Seizure, Gliosis, Hypoplasia of the corpus callosum, Camptodactyly, Joint contracture OMIM:617403
Farber Disease
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity ORPHA:333
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity OMIM:620089
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Dystonia, Ataxia, Microcephaly, Tremor, Chorea, Cerebral atrophy, Seizure, Atheto... OMIM:615356
Immunodeficiency 23
Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Sialuria
Memory impairment, Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder ORPHA:3166
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Microcephaly, Abnormal cerebral white matter morphology, Seizure, Hyperton... ORPHA:284339
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Confusion, Basal ganglia calcification, Choroid plexus calcification, Myo... ORPHA:79444
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Megalencephaly, Patchy hypo- and hyperpigmentation, Focal motor seizure, M... ORPHA:3063
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Microcephaly, Seizure, Hyperkinetic movements, Trunc... OMIM:300243
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Small basal ganglia, Self... ORPHA:2388
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Involuntary movements, Confusion, Basal ganglia calcification, Choroid pl... ORPHA:79443
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tetraplegia, Seizure, Myoclonus, Hypoplasia of the corpus callosum, Dystonia, Thin corpus callosum OMIM:618278
Lathosterolosis
Seizure, Cerebral calcification, Myoclonus, Microcephaly ORPHA:46059
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Gait ataxi... ORPHA:513456
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Attention defici... ORPHA:466950
Pgm3-Cdg
Seizure, Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (abse... OMIM:620330
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... ORPHA:297
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure, Vitiligo ORPHA:293978
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microcephaly, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Cerebral atr... ORPHA:468631
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Microcephaly, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypert... ORPHA:2636
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Vocal cord paralysis... OMIM:617799
Autosomal Dominant Hypocalcemia
Irregular hyperpigmentation, Writer's cramp, Cortical myoclonus ORPHA:428
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Involuntary movements, Absent septum pellucidum, S... ORPHA:438213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Dysplastic corpus callosum, Simplified gyral pattern, Generalized non-... ORPHA:500150
Pseudohypoparathyroidism Type 1B
Laryngeal dystonia, Myoclonic spasms, Hypocalcemic seizures ORPHA:94089
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus ORPHA:466677
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Microcephaly, Typical absence seizure, Seizure, Hypoplasia of the corpus callosum, Agenesis of co... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Microcephaly, Typical absence seizure, Seizure, Hypoplasia of the corpus callosum, Agenesis of co... ORPHA:352665
Joubert Syndrome 1
Oculomotor apraxia, Hemifacial spasm, Ataxia, Microcephaly OMIM:213300
Sotos Syndrome
Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generalized non-motor (absence) seizur... ORPHA:821
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Decreased muscle mass, Phonic tics, Depression, Myopathy, Neurodegeneration, Eye o... OMIM:234200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Seizure, Myoclonus, Spasticity, Pachygyr... OMIM:253280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Microcephaly, Tremor, Generalized non-motor (absence) seizure, Se... OMIM:612474
Listeriosis
Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus ORPHA:533
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Microcephaly, Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz... ORPHA:2495
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Microcephaly ORPHA:525731
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Poliomyelitis
Confusion, Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations ORPHA:2912
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... ORPHA:522077
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Apraxia ORPHA:77293
Doors Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Focal impaired awareness seizure, Myoclonus, Polymi... ORPHA:79500
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal hypointensity of cerebral white matter on MRI, Focal-onset seizure, Large basal ganglia, Po... ORPHA:261537
Mowat-Wilson Syndrome
Focal cortical dysplasia, Ataxia, Microcephaly, Focal-onset seizure, Large basal ganglia, Abnorma... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Focal-onset seizure, Hypoplastic anterior co... ORPHA:261552
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Alström Syndrome
Incoordination, Ataxia, Typical absence seizure, Poor fine motor coordination, Cognitive impairment ORPHA:64

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 Nhlrc1

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 Nhlrc1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora. Molecular neurobiology (December 2021) Nhlrc1tm1(KOMP)Vlcg PMC8857170
Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity. Neurobiology of disease (November 2020) Nhlrc1tm1(KOMP)Vlcg PMC7736642
Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease. Glia (August 2018) Nhlrc1tm1(KOMP)Vlcg 30152044
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. The Journal of biological chemistry (November 2014) Nhlrc1tm1(KOMP)Vlcg PMC4294506
Neuronal glycogen synthesis contributes to physiological aging. Aging cell (July 2014) Nhlrc1tm1(KOMP)Vlcg PMC4331761
Protein degradation and quality control in cells from laforin and malin knockout mice. The Journal of biological chemistry (July 2014) Nhlrc1tm1(KOMP)Vlcg PMC4110273
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. Human molecular genetics (January 2014) Nhlrc1tm1(KOMP)Vlcg 24452334
Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity. Human molecular genetics (December 2011) Nhlrc1tm1(KOMP)Vlcg PMC3298283
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease. EMBO molecular medicine (August 2011) Nhlrc1tm1(KOMP)Vlcg PMC3377110
Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin. The Journal of biological chemistry (June 2010) Nhlrc1tm1(KOMP)Vlcg PMC2919100

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MGI Allele Allele Type Produced
Nhlrc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nhlrc1tm392942(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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