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Gene: Mbp MGI:96925

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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:
myelin basic protein
Synonyms:
Hmbpr,  jve,  golli-mbp

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 Mbp 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stxbp1-Related Encephalopathy
Epileptic spasm, Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure with focal... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Megalencephaly With Dysmyelination
Spasticity, Ataxia, EEG with photoparoxysmal response, Cerebral dysmyelination OMIM:249240
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... OMIM:617810
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnorma... OMIM:617836
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... OMIM:616346
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Reduced cerebral white matter volume, Tonic seizure, Hypsarrhythmia, Seizure, At... OMIM:617771
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Ge... OMIM:619157
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Reduced cerebral white matter vo... OMIM:618396
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... ORPHA:2382
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Cerebral dys... ORPHA:101070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... OMIM:609446
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Reduced cerebral white matter volume, Inability to walk, ... OMIM:620317
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Microcephaly, Multifocal epileptiform discharges, Myoclonic seizure, Abnormal cerebral white matt... OMIM:618596
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... ORPHA:431329
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti... OMIM:616187
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
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 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired... ORPHA:101007
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Spast... OMIM:618677
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Seizure, EEG abnormality, Myoclonus,... OMIM:617391
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure wi... ORPHA:2590
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Microcephaly, Inability to walk, Babinski sign, Spastic tetraplegia, C... OMIM:616657
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Tonic seiz... OMIM:617711
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia, Spastic tetraparesis, Cavitating leukodystrophy OMIM:619061
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Microcephaly, Seizure, EEG abnormality, Myoclonic ab... OMIM:612621
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Cerebellar hypoplas... OMIM:604213
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
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
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:271980
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Se... OMIM:618170
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... ORPHA:86909
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Babinski sign, Generalized non-motor (absence) seizure, L... OMIM:618242
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... OMIM:606777
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... ORPHA:401820
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
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
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Un... ORPHA:485350
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hearing impairment, Hand tremor, Spastic dysarthria, Abnormal myelination,... ORPHA:401830
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, EEG with burst suppression, Inability to walk, Spastic tetraplegi... OMIM:617929
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... OMIM:618276
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment ORPHA:101078
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Seizure, EEG with focal slow activity, EEG with focal spikes, ... ORPHA:101029
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Delayed CNS myelination, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal v... OMIM:619742
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Infantile spa... OMIM:610031
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Microcephaly, Focal-onset ... OMIM:619616
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Inability to walk, Prominent ear helix, Generalized non... ORPHA:411986
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Seizure, Axonal loss, Abnormalit... OMIM:617672
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... OMIM:617350
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Hypsarrhythmia, Seizure OMIM:619561
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Diffuse white matter abnormalities, Typical absence seizure, Focal mot... ORPHA:208447
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... OMIM:607317
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance... ORPHA:363710
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Microcephaly, Generalized non-motor (ab... OMIM:616281
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with generalized slow activity grade 4, Ataxia, Typical absence seizure, S... ORPHA:168491
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxi... OMIM:616230
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity, Hearing impairment ORPHA:101075
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Hand tremor ORPHA:352675
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Microcephaly, Generalized myoclonic-ato... OMIM:619701
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status ep... ORPHA:71277
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, CNS demyelination, Peripheral demyelin... OMIM:249900
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... ORPHA:2589
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... OMIM:605021
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Lissencephaly 3
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Agyria, Microcephaly, Spast... OMIM:611603
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Null Syndrome
Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin... ORPHA:280234
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Clumsiness, EEG abnormality... OMIM:610003
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Cln5 Disease
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Abnormal central motor funct... ORPHA:228360
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Startle-induced seizure, Ataxia, Infantile spasms, Microcephaly, Hy... ORPHA:467166
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop... OMIM:613162
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... ORPHA:101112
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... ORPHA:3006
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... OMIM:618404
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Frequent falls, Babinski sign, Decreased compound muscle action potential amplitude, Chaddock reflex OMIM:619112
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Spas... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Opisthotonus, Cavum septum pellucidum, Pachygyria, Thick cerebral c... ORPHA:95232
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Hand tremor, Frequent falls, Onion bulb formation, Peripheral demyelination OMIM:618279
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Seizure, Abnormal cerebral... ORPHA:500166
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Hearing impairment, Head tremor, Dystonia... OMIM:613724
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... ORPHA:53583
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... ORPHA:206594
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system ... OMIM:256731
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Optic atrophy, Tetraplegia, Cer... OMIM:616034
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Hypertonia, Sp... OMIM:600361
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty wa... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, ... OMIM:614322
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... OMIM:614877
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Dystonia OMIM:616684
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... ORPHA:263516
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure, Se... OMIM:614559
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia ORPHA:98916
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... ORPHA:101071
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Basal ganglia calcification, Abnormal pyramidal sign, Bra... OMIM:213600
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Thick cerebral cortex, Bilateral tonic-clonic seizure... ORPHA:65683
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... ORPHA:542310
Lissencephaly 4
Babinski sign, Simplified gyral pattern, Seizure, Colpocephaly, Hypertonia, Lissencephaly, Cerebe... OMIM:614019
Developmental And Epileptic Encephalopathy 34
Delayed CNS myelination, Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizur... OMIM:616645
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Tremor, Seizure, Abnormal cerebral white matter morphology, Low-set ears, Failure to thrive OMIM:618951
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp... OMIM:619301
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Hy... ORPHA:521406
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, Intracerebral periventricular calcifications, EEG with frontal fo... ORPHA:268947
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalize... ORPHA:2524
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea... ORPHA:79263
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Bilateral ... ORPHA:1929
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity, Hearing impairment ORPHA:99014
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Agenesis of corpus callosum, Ataxia ORPHA:85334
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria... ORPHA:1934
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Micr... OMIM:617493
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Diaphragmatic paralysis ORPHA:868
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... OMIM:614833
Lissencephaly, X-Linked, 1
Ataxia, Seizure, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Abnormal basal ganglia morphology, Decreased body we... ORPHA:99852
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... ORPHA:3115
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Frequent falls OMIM:611228
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Oculogyric crisis, Microcephaly, Inability to walk, Chorea, ... OMIM:614254
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... ORPHA:250972
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chore... OMIM:618093
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Focal cortical dysplasia, Bilateral tonic-clonic seizure, Infantile s... ORPHA:98820
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Thin corpus callosum, Hearing impa... OMIM:620270
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Microcephaly, Tremor, Anteverted ears, Poor coordination, Gait... ORPHA:544254
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, S... ORPHA:139485
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
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
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure, EEG abnormality, Pac... OMIM:614115
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, H... OMIM:617862
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... OMIM:616291
Developmental And Epileptic Encephalopathy 17
Inability to walk, EEG with burst suppression, Chorea, Focal tonic seizure, Cerebral atrophy, Hyp... OMIM:615473
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
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
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Seizure, Spastic gait OMIM:600363
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Seizure, Subcortical cerebral atrophy, Hypertonia, Cereb... ORPHA:33445
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, ... ORPHA:504476
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypsarrhythmia, Seizure, Hyperto... OMIM:618959
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Multifocal epileptiform discharges, ... OMIM:609056
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Acute demyelinating polyneu... ORPHA:101081
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Tetraplegia, Cerebral atrophy, Seizure, Hypertonia, Lethargy, Failur... OMIM:274270
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi... OMIM:618729
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... ORPHA:276435
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai... OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Agyria, I... ORPHA:171680
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Lower limb spasticity, A... OMIM:616881
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Sensorineural hearing impairment, Decreased nerve conduction velocity, Dystonia OMIM:614932
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Microcephaly, Tremor, Spasticity OMIM:278780
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Developmental And Epileptic Encephalopathy 110
Microcephaly, Chorea, Generalized non-motor (absence) seizure, Spasticity, Hypoplasia of the corp... OMIM:620149
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral pattern, Cerebral atr... OMIM:618492
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairme... OMIM:618387
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Truncal ataxia OMIM:608636
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Vocal cor... OMIM:607706
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria OMIM:619191
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia, Failure to thrive, Thin corpus callosum OMIM:619651
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Seizure, Small cerebral cortex, Cereb... OMIM:608716
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Optic atrophy, Simplified gyral pat... OMIM:619470
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Babinski sign, Opt... OMIM:612674
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia OMIM:617830
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Generalized non-motor (absence) sei... OMIM:617183
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Microcephaly 17, Primary, Autosomal Recessive
Macrotia, Simplified gyral pattern, Microlissencephaly, Seizure, Hypertonia, Cerebellar hypoplasi... OMIM:617090
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... OMIM:617976
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, Thick cerebral cortex, EEG with focal spike waves... ORPHA:352582
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Rabies
Seizure, Vocal cord paresis, Cerebral palsy ORPHA:770
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... OMIM:618012
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Dystonia 28, Childhood-Onset
Torticollis, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dyston... OMIM:617284
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:608323
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... OMIM:610185
Krabbe Disease
Optic atrophy, Seizure, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelinati... OMIM:245200
Periventricular Nodular Heterotopia 7
Optic disc pallor, Ataxia, Infantile spasms, Cortical dysplasia, Sensorineural hearing impairment... OMIM:617201
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... ORPHA:98761
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Microcephaly, Tremor, Cerebral atrophy, Hypsarrhythmia, Seizure, Failu... OMIM:617162
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... ORPHA:280219
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to... ORPHA:1947
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Appendicular spasticity, Inability to walk, Optic atrophy, Seizure, Periventr... OMIM:618324
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Recurrent respiratory infections, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dys... OMIM:618356
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Seizure, Axonal loss, Myoclonus, Apraxia, Spasticity, Peripheral demyelination OMIM:221770
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Gaba-Transaminase Deficiency
EEG with burst suppression, Seizure, Cerebellar hypoplasia, Lethargy, Agenesis of corpus callosum OMIM:613163
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia ORPHA:1188
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Babinski sign,... OMIM:270685
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Seizure, Leukody... OMIM:610532
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Foc... OMIM:617166
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Seizure, Hypoplasia of the corpus callo... OMIM:300983
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Spastic diplegia, Periventricular cysts, Cerebral a... ORPHA:255182
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure,... ORPHA:395
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:302800
Autosomal Dominant Spastic Paraplegia Type 17
Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ... OMIM:620158
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... ORPHA:101085
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, ... OMIM:604317
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Inability to walk, Primary microc... ORPHA:457351
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... ORPHA:163985
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Dystonia, Abnormal periphera... ORPHA:457205
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Dyst... OMIM:615528
Lipoid Proteinosis Of Urbach And Wiethe
Temporal lobe calcification, Seizure, Bilateral intracerebral calcifications, Generalized non-mot... OMIM:247100
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Cerebral atrophy, Obesity, Focal impaired awareness seiz... OMIM:616521
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Apraxia, Spasticity, Abnor... ORPHA:101001
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure, Cerebral atrophy, Myoc... OMIM:226750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Dystonia, Spastici... OMIM:618238
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Hypert... OMIM:619854
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebell... ORPHA:137831
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, EEG abnormality, Dystonia OMIM:612126
Autosomal Dominant Spastic Paraplegia Type 6
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Babinski sign, Spastic pa... ORPHA:100988
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... OMIM:618688
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Leukoencephalopathy, Seizure... OMIM:603472
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Hearing impairment, Babinski s... OMIM:616688
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Microcephaly, Focal-onset seizure, Inability to walk, Seizure, Hyperto... OMIM:617188
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, EEG with focal spikes, Basal ganglia... ORPHA:79243
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Pachygyria, Focal-onset seizure, Inability to w... ORPHA:561854
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Microcephaly, Head titubation, Simplified gyral patte... OMIM:620208
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Inability to walk, Babinski sign, ... OMIM:617105
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations OMIM:606595
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Co... ORPHA:300573
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Ataxia, Overweight, Obesity, Hypsarrhythmia, Seizure, EEG abn... OMIM:619229
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inability to walk, Chorea, Ma... OMIM:617864
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Abnormal au... ORPHA:139578
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Peripheral hy... OMIM:604168
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Seizure, Primary microcephaly OMIM:618010
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Arthrogryposis, Impaired Intellectual Development, And Seizures
Microcephaly, Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Hsd10 Disease
Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Frontotemporal c... ORPHA:391417
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... OMIM:608804
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste... ORPHA:442835
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Lethargy, Failu... OMIM:250620
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset se... OMIM:618917
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, ... OMIM:620001
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... OMIM:618497
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... ORPHA:1949
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Tremor, Inability to walk, Loss of ambulation,... ORPHA:3095
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... ORPHA:52368
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... OMIM:613839
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Abnormal cortical... ORPHA:79351
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Seizure, Dystonia... OMIM:250100
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, ... OMIM:618346
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Recurrent respiratory infections, Tongue fasciculations, Han... OMIM:253550
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Microcephaly 16, Primary, Autosomal Recessive
Primary microcephaly, Spastic tetraplegia, Simplified gyral pattern, Seizure, Decreased body weig... OMIM:616681
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Truncal ... OMIM:238970
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Generalized-onset ... ORPHA:357058
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetr... ORPHA:313772
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Sensorineural h... OMIM:619737
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Sensorineural hearing impairment OMIM:613287
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,... OMIM:300957
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Decerebrate rigidity, Progressi... ORPHA:845
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysmetria, Clu... ORPHA:284324
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... OMIM:618049
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... OMIM:612438
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Ch... OMIM:619725
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Hypertonia, Progressive spasticity, Loss of ambulation, Clumsiness, Seizure, Truncal atax... ORPHA:137898
Masa Syndrome
Hemiplegia/hemiparesis, Spastic paraplegia, Agenesis of corpus callosum, Gait disturbance ORPHA:2466
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Poor coordinat... OMIM:617695
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Gait ataxia, Severe sensorineural hearing impairment, Abnorm... ORPHA:90103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Cystathioninuria
Tremor, Seizure ORPHA:212
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Hand tremor, Tongue ... OMIM:162400
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... ORPHA:101111
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... OMIM:617281
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Bilateral tonic-clonic seizu... ORPHA:464282
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetr... ORPHA:254881
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Ankle clonus OMIM:159550
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Microcephaly, Generalized non-motor (absence) seizure, Primary microcephaly OMIM:616033
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Parkinsonis... ORPHA:98756
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Paraplegia ORPHA:71211
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased nerve conduction velocity, Macrotia,... OMIM:218000
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease And Deafness
Tremor, Decreased motor nerve conduction velocity, Sensorineural hearing impairment OMIM:118300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Sei... OMIM:607694
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Poor gross motor co... OMIM:245349
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Postural tremor, Dec... ORPHA:99950
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Clumsiness... OMIM:300558
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Myoclonus, Difficulty walking, Tongue fasciculat... OMIM:159950
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology ORPHA:217260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Abnormal periventricular white matter morphology, Generalized non-motor (absence) seizure OMIM:618992
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis OMIM:302802
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Seizure, Progressive gait ataxia, D... ORPHA:289494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Babinski s... OMIM:615398
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Microcephaly, Status epilepticus, Myoclonus, Spasticity, Fa... OMIM:618201
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidity, Head titubation, Cereb... OMIM:618877
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Optic atrophy, Dysmetria, Bradykinesia, Progressive cere... ORPHA:98755
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Basa... OMIM:312170
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... OMIM:615771
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Macrotia, Babinski si... OMIM:615802
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Small for gestational ... ORPHA:289266
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Chorea, Microcephaly, ... OMIM:300260
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis OMIM:616287
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign,... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Seizure, Peripheral axonal neuropathy, At... OMIM:607250
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Microcephaly, Chorea, EEG abnormality, Seizure, Focal impaired aw... OMIM:613970
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Microcephaly, Tremor, Rigidity, Choreoathetosis,... OMIM:261640
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Cereb... OMIM:312080
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Poor gross motor coordination, Motor conduction block, Poor ... ORPHA:99948
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Cerebellar edema, Abnormal basal ganglia MRI signal intensity, Seizur... ORPHA:363558
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Focal EEG discharges with secondary gene... ORPHA:3077
Horner Syndrome, Congenital
Paralysis OMIM:143000
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
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Microcephaly, Tremor, Inability to walk, Large fleshy ears, Seizure, Hypertonia, Cerebell... OMIM:619556
Behr Syndrome
Cerebellar atrophy, Periventricular leukomalacia, Ataxia, Tremor, Unsteady gait, Babinski sign, O... OMIM:210000
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic para... OMIM:300055
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Bilatera... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Lower lim... ORPHA:319514
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... ORPHA:397744
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Re... OMIM:620352
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s... OMIM:252650
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Conductive hearing impairment... ORPHA:85179
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Frequent falls, Facial palsy, Decreased distal sensory... OMIM:607684
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Microcephaly, Unsteady gait, Generalized n... OMIM:617798
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Delayed myelination, Sensorineural hearing impair... ORPHA:79097
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Spasticity, Frequent falls OMIM:620068
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra... ORPHA:70594
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Cerebral dysmyelination, Tremor, I... ORPHA:72
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Ataxia, Involuntary movements, Decreased number of large peripheral... OMIM:271245
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:300607
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/ado... OMIM:620224
Glycine Encephalopathy 1
Seizure, Agenesis of corpus callosum, Myoclonus, Lethargy OMIM:605899
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Aganglionic megacolon, Microcephaly, Inability to walk, Sensorine... OMIM:614207
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Hearing impairment ORPHA:101082
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls, Tinnitus OMIM:617691
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Dpm1-Cdg
Cerebellar atrophy, Early onset absence seizures, Ataxia, Optic atrophy, Cerebral atrophy, Seizur... ORPHA:79322
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine... OMIM:617013
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Microcephaly, EEG with burst suppression, Neuronal loss in the cerebral corte... ORPHA:168486
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Microcephaly, Tremor, Inability to walk, Seizure, EEG abnormality, Low-set ears, Spasticity OMIM:618718
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,... ORPHA:255138
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive 31
Posterior atrophy of corpus callosum, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathe... OMIM:619422
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Unsteady gait, Seizure, EEG with general... ORPHA:79101
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Microcephaly, Tremor, Focal-onset ... OMIM:619092
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Microcephaly, Hypoplasia of the pons, Optic atrophy, Si... OMIM:617669
Neuroferritinopathy
Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par... ORPHA:157846
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Multifocal ep... OMIM:616672
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum ORPHA:459074
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity OMIM:615376
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait at... OMIM:137440
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Waisman Syndrome
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure,... OMIM:311510
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Generalized-onset seizure, Ce... OMIM:611523
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S... OMIM:604360
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Tetraparesis, Tetraplegia, Decreased amplitude of sensory ac... ORPHA:85446
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon... ORPHA:284289
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Overfolded helix, Posteriorly rotated ears, Generalized non-motor (absence) seizure OMIM:300801
Asparagine Synthetase Deficiency
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo... OMIM:615574
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... ORPHA:306669
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... OMIM:618598
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, C... OMIM:301058
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... OMIM:607483
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis OMIM:300857
Sialidosis Type 1
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Slurred sp... ORPHA:812
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Macrotia, Waddling gait OMIM:616269
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Tremor, Chorea, I... OMIM:208920
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ... ORPHA:171629
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Diffuse spongiform leukoencephalopathy, Chorea, Babinski sign, EEG w... ORPHA:282166
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Absent septum pellucidum, Microcephaly, Generalized non-motor (absence) seizure,... ORPHA:96147
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Photosensitive myoclonic ... ORPHA:1192
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Tremor, Overweight, Seizure, Hyperkinetic movements... ORPHA:457240
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Gait ataxia, Progr... ORPHA:309256
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Spasticity, Seizure... OMIM:304100
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Abnormal motor evoked potentials ORPHA:99939
Glioblastoma
Seizure, Paralysis ORPHA:360
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Failure to thrive, Bilateral tonic-clonic seizure, Mic... OMIM:617988
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:618325
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, EEG abnormality, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cerebellar atr... ORPHA:404454
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasciculations... ORPHA:276198
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure, Abnormal cerebral white matter morphology ORPHA:576283
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the corpus cal... ORPHA:500144
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Seizure, Progressive hearing impairmen... ORPHA:97229
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy... OMIM:169500
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculations, Frequ... ORPHA:329478
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Babinski sign, Spastic ... OMIM:256840
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... OMIM:615905
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Dystonia, Cachexia, Microcephaly, Gait ataxia, Apl... ORPHA:85278
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Chorea, Babinski sign, Optic atrop... ORPHA:95
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Delayed myelination, Chorea, Babinski sign, Choreoathetosis, EEG abnormality, Hyp... OMIM:618451
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, M... OMIM:300912
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax... OMIM:614381
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Hemiparesis, Seizu... OMIM:617542
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of ... OMIM:619653
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Symmetri... OMIM:231670
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetr... OMIM:256600
Nicolaides-Baraitser Syndrome
Epileptic spasm, Microcephaly, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:3051
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Babinski sig... OMIM:616505
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis ORPHA:140989
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, Partial agenesis of the corpus callosum, EEG wit... ORPHA:101030
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... ORPHA:309271
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Microcephaly, Tremor, Hypoplastic anterior limbs of the internal capsule, Chorea,... OMIM:615673
Cortical Dysplasia, Complex, With Other Brain Malformations 12
EEG with burst suppression, Dysgenesis of the basal ganglia, Babinski sign, Hypsarrhythmia, Seizu... OMIM:620316
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Generalized-onset seizure, Cerebellar vermis hypoplasia, Cerebral calcification, Myoclonic seizur... OMIM:620024
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Spontaneous Periodic Hypothermia
Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Seizure, Gait disturbance ORPHA:29822
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Un... OMIM:183090
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Inability to walk, Multifocal epileptiform discharg... ORPHA:488613
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Fo... OMIM:618354
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... OMIM:620028
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Congenital sensorineural hearing impairment, R... ORPHA:1187
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria, Abnormal myelination ORPHA:352682
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Lissencephaly 2
Thick cerebral cortex, Generalized-onset seizure, 4-layered lissencephaly, Microcephaly, Hypoplas... OMIM:257320
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Cortical dysp... OMIM:610042
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Optic disc pallor, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Microhydranencephaly
Hydranencephaly, Microcephaly, Macrotia, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, G... OMIM:605013
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... ORPHA:401768
Spinocerebellar Ataxia 21
Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxi... OMIM:607454
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Poor fine motor coordination, Decreased nerve conduction velocity, Frequent falls ORPHA:435387
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Intellectual Developmental Disorder, Autosomal Dominant 22
Abnormal pinna morphology, Microcephaly, Generalized non-motor (absence) seizure, Seizure, Low-se... OMIM:612337
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Generalized-onset seizure, Akinesia... OMIM:618249
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... OMIM:164400
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Tremor, Optic atrophy,... OMIM:617710
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ... ORPHA:765
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk, Seizure, Hypoplasia of the corpus callosum, Hear... OMIM:620114
Band Heterotopia
Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Spasticity, Polymicrogyria, ... OMIM:600348
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia OMIM:619724
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, EEG with generalized epi... OMIM:619827
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... ORPHA:206436
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Cerebellar vermis hypoplasia, Reduced cerebral white... OMIM:617807
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Pr... ORPHA:329308
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Tremor, Myoclonic seizure, ... OMIM:620327
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,... OMIM:612073
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi... OMIM:614924
Variegate Porphyria
Paralysis OMIM:176200
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seiz... OMIM:617664
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia ORPHA:1933
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,... OMIM:609136
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, EEG with focal sharp waves, Optic atrophy... OMIM:617302
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Abnormality of peripheral nerve conduction, Intention... ORPHA:48431
Cednik Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Macrotia, Abnormality of peripheral nerv... ORPHA:66631
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impa... ORPHA:435638
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Fasciculations OMIM:614436
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... OMIM:619026
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g... OMIM:615095
Congenital Myopathy 10A, Severe Variant
Facial palsy, Diaphragmatic paralysis, Tongue fasciculations, Abnormal motor nerve conduction vel... OMIM:614399
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity OMIM:615284
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Ataxia OMIM:609033
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Seizure, Cerebellar h... OMIM:616900
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Axonal loss, Hyperton... OMIM:252160
Saccharopinuria
Tremor, Seizure, Spastic diplegia, Gait ataxia ORPHA:3124
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Progres... ORPHA:309246
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Cupped ear, Seizure, Colpocephaly, Large earlobe, Agene... OMIM:619955
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Posteriorly rotated ears, Microcephaly, Generalized non-motor (absence) seizure, Seizure, Small c... OMIM:617360
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, EEG with burst suppression, Seizure, Lissencephaly, Cerebellar hypoplasia, Agenesis... OMIM:616342
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... OMIM:615419
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Impaired distal... OMIM:300623
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Delayed CNS myelination, Ataxia, Abnormal auditory evoked potentials, Sensorin... OMIM:619260
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Babinski sign, Gait ... OMIM:616192
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida... ORPHA:447753
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Tremor, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Sei... OMIM:300354
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia, Babinski sign, Ataxia OMIM:608703
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Joubert Syndrome 23
Dysplastic corpus callosum, Sensorineural hearing impairment, Cerebellar dysplasia OMIM:616490
Trisomy X
Tremor, Seizure ORPHA:3375
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Gait disturba... ORPHA:280229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Microcephaly, Tremor, Obesity, Spastic diplegia, Protruding ear, Seizure, Hypoplasia of the corpu... ORPHA:480907
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissence... ORPHA:268940
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Dysmetria, Gait ataxia, Dystonia OMIM:203740
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Optic atrophy, Seizure, Pontocerebellar atrophy, EEG abnormality, Secondary micro... OMIM:608799
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Lower limb spasticity, Generalized non-motor (absence) seizure, Abnormal ... ORPHA:363686
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... OMIM:128100
Ataxia With Vitamin E Deficiency
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... OMIM:277460
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Cerebral white matter atrophy, A... ORPHA:521426
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Abnormal pyramidal sign ORPHA:93476
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Diaphragmatic paralysis OMIM:604320
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Cessation of head growth,... ORPHA:98794
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Cerebrotendinous Xanthomatosis
Abnormal globus pallidus morphology, Abnormal pyramidal sign, Abnormal motor evoked potentials, A... ORPHA:909
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, T2 hypointens... ORPHA:25
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Segmental peripheral demyelination/remy... ORPHA:255210
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Gliosis OMIM:614959
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Seizure, Secondary microcephaly, Spasticity, Failure to thrive OMIM:619423
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Hemiplegia/hemiparesis, Seizure, EEG abnormality, Agenesis of corpus callosum ORPHA:1496
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Tongue fasciculations OMIM:619851
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Se... ORPHA:258
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Microcephaly, Tremor, Inabil... OMIM:615356
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Generalized-onset seizure, Cerebral palsy, Infantile spasms, Focal... ORPHA:2148
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Peho Syndrome
Seizure, Optic atrophy, Myoclonus, Peripheral dysmyelination OMIM:260565
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
Immunodeficiency, Common Variable, 2
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Axonal loss, Myoclonic spasms, ... OMIM:252150
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Microcephaly, Pachygyria, Dysplastic corpus callosum, Simplified gyral patt... OMIM:619179
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Babinski sign, Facial diplegia, Low-set ears, Dystonia... OMIM:618186
L-2-Hydroxyglutaric Aciduria
Gliosis, Severe demyelination of the white matter OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ... OMIM:606002
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
East Syndrome
Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Seizure, Peripheral hypomyelinat... ORPHA:199343
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... OMIM:168600
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Seizure, Increased body weight, Lethargy ORPHA:276608
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Multifocal seizures, ... ORPHA:572798
Multiple Sulfatase Deficiency
CNS demyelination, Spasticity, Ataxia, Peripheral demyelination OMIM:272200
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... OMIM:618527
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia, Cerebral atrophy,... ORPHA:83629
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... ORPHA:220497
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
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:618832
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound... OMIM:602433
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Spastic parapl... OMIM:609541
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre... ORPHA:512
Weaver Syndrome
Bilateral tonic-clonic seizure, Absent septum pellucidum, Slurred speech, Generalized non-motor (... OMIM:277590
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Spastic Paraplegia 9B, Autosomal Recessive
Microcephaly, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, Ps... OMIM:616586
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity, Tonic seizu... OMIM:618367
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing... OMIM:304700
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Microcephaly, Pachygyria, Generalized non-motor... ORPHA:513456
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hearing impairment, Generalized non-motor (ab... ORPHA:369837
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Basal ganglia calcifi... ORPHA:90321
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Posteriorly rotated ears, Abnormal corti... OMIM:617527
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis ORPHA:83601
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Rigidity, Leukoence... OMIM:617186
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:614116
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Sialidosis Type 2
Tremor, Seizure, Ataxia, Hearing impairment ORPHA:87876
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:201300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Japanese Encephalitis
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Abnormal caudat... ORPHA:79139
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor OMIM:619473
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Ataxia, Tremor, Decr... OMIM:214500
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Vocal cord paresis, Amyotrophic lateral sclerosis ORPHA:600
4Q21 Microdeletion Syndrome
Tremor, Seizure, Cerebellar hypoplasia, Low-set ears, Agenesis of corpus callosum, Hearing impair... ORPHA:238750
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Sensorineural hearing impairment, S... OMIM:607426
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Friedreich Ataxia
Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conductio... OMIM:229300
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Microcephaly, Tremor, Seizure, Microtia, Failure to ... ORPHA:370079
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of peripheral somatosensory evoked potentials, Decreased distal s... ORPHA:466768
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Sensorineural hearing impairment, Perivent... ORPHA:544488
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Cerebral palsy, Spastic par... ORPHA:93474
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Microcephaly, Focal-onset seizure, Generali... OMIM:619297
Sneddon Syndrome
Tremor, Seizure, Hemiplegia OMIM:182410
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... OMIM:614575
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... ORPHA:95433
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Small for gestational age OMIM:620135
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Paraplegia, Limb ataxi... OMIM:105210
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sign, Opisthot... OMIM:271900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials OMIM:109120
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Micro... OMIM:614947
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia... OMIM:618476
Halperin-Birk Syndrome
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Optic atrophy, Spastic tetrapl... OMIM:618651
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ... ORPHA:99947
Alexander Disease
Cerebral calcification, Ataxia, Clonus, Facial palsy, Megalencephaly, Tremor, Chorea, Abnormal py... ORPHA:58
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Aplasia/Hypoplasia of the co... ORPHA:475
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Bilateral tonic-clonic seizure, Ataxia, My... OMIM:268800
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Hemiplegia/hemiparesis, Seizure, Spasticity, Agenesis of corpus callosum ORPHA:2182
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Seizure, Febrile se... OMIM:619475
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity, Seizure, Cerebellar hypoplasia OMIM:618810
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, Microcephaly, External ear malformation, ... ORPHA:438216
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Hearing impairment, Gait ataxia OMIM:616652
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Failure to thrive, Hypertonia, Microcephaly OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Optic atrophy, Seizure, ... OMIM:253800
Chronic Bilirubin Encephalopathy
Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paralysis OMIM:176000
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho... OMIM:617675
Infantile Neuroaxonal Dystrophy
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Abnormal autonomic nervous ... ORPHA:35069
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Microcephaly,... OMIM:193700
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... ORPHA:480864
Ddost-Cdg
Tremor, Seizure, Oromotor apraxia ORPHA:300536
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:610651
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... OMIM:619103
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Poor ... ORPHA:466943
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Microcephaly, Seizure, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria, Agenesis... OMIM:225790
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Gliosis OMIM:603896
Hyperlysinemia
Neck hypertonia, Failure to thrive, Poor motor coordination, Simple febrile seizure, Spastic tetr... ORPHA:2203
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Decreased nerve condu... OMIM:618733
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Cortical dysplasia, Seizure, Cerebellar hypoplasia, Polymicrogyria, Cere... OMIM:618343
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Ataxia, Parkinsonism, Recu... ORPHA:167
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Infantile spasms, Severe demyelination of the white matter, Optic atrophy, Poor fine moto... ORPHA:79282
Trisomy 10P
Poor motor coordination, Small for gestational age, Abnormal auditory evoked potentials, Perivent... ORPHA:171929
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Failure to t... ORPHA:268261
Even-Plus Syndrome
Dysplastic corpus callosum, Microtia, Agenesis of corpus callosum OMIM:616854
Congenital Disorder Of Glycosylation, Type Ij
Infantile spasms, Microcephaly, Tremor, Hypsarrhythmia, Seizure, Hypertonia OMIM:608093
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... ORPHA:85410
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:614863
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis... OMIM:616271
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cere... ORPHA:3008
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia, Cerebral cortical ... ORPHA:683
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Small for gestational age... OMIM:133540
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Macr... ORPHA:354
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... ORPHA:48818
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Ataxia, Abnormal sensory nerve conduction velocity, Gait ataxia ORPHA:88628
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Decreased sensory ne... ORPHA:298
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... ORPHA:254930
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of the corpus c... OMIM:618569
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... ORPHA:646
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Microcephaly, Tremor, Decreased body weight, Hearing impairment OMIM:278760
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Seizure OMIM:222300
Wilson Disease
Dystonia, Poor motor coordination, Tremor, Rigidity, Decreased nerve conduction velocity, Hand tr... OMIM:277900
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Micro... OMIM:216400
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Ataxia, Seizure, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Inten... OMIM:612780
Dpagt1-Cdg
Epileptic spasm, Ataxia, Diffuse optic disc pallor, Akinesia, Microcephaly, Tremor, Abnormal cere... ORPHA:86309
Kapur-Toriello Syndrome
Failure to thrive, Posteriorly rotated ears, Dysplastic corpus callosum, Atresia of the external ... ORPHA:2328
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Gait ... ORPHA:99949
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Cachexia, Microcephaly, Tremor, Obesity, Abnormal earlobe morphology, Seizure, ... ORPHA:85293
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spastic tetraplegia OMIM:615663
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Sensorineural hearing impairment... ORPHA:456312
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpu... ORPHA:500150
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Sensorineural hearing impairment, Conductive hearing impairment, Foca... ORPHA:557003
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Tay-Sachs Disease
Seizure, Exaggerated startle response, Hypertonia OMIM:272800
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Facial palsy, Tremor, Rigidity, Ga... ORPHA:254892
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Thickened helices, Microcephaly, Tremor... OMIM:300966
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Microcephaly, Tremor, Obesit... OMIM:619680
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi... ORPHA:79255
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic nerve hypop... OMIM:620330
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se... ORPHA:98784
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination ORPHA:168563
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Dysmetria, Seizure, Truncal ataxia, CNS demy... OMIM:220111
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Generalized-onset sei... OMIM:212065
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Inability to walk, Typical absence seizure, Sensorineural h... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Inability to walk, Typical absence seizure, Sensorineural h... ORPHA:352665
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Abnormal pinna morphology ORPHA:477817
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Typical absence... ORPHA:466950
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Microtia, Hypopla... ORPHA:314679
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Ataxia-Telangiectasia
Ataxia, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progre... OMIM:208900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordinat... ORPHA:309854
Chromosome 18Q Deletion Syndrome
Broad-based gait, Failure to thrive in infancy, Microcephaly, Tremor, Chorea, Poor coordination, ... OMIM:601808
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebell... ORPHA:502423
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Babinski sign, Abnormal pyramida... ORPHA:79138
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Clonus OMIM:620080
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Tremor, R... OMIM:601104
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ataxia, Microcephaly, Tremor, Gait ataxia, Protruding ear, Seizure, Cerebellar hypoplasia, Perive... OMIM:300998
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Aplasia/Hy... ORPHA:1454
Congenital Disorder Of Deglycosylation 1
Recurrent respiratory infections, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinet... OMIM:615273
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Seizure, Hy... ORPHA:79330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Leukoencephalopathy, Seizure, Low-set ears, Failure to... OMIM:614052
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Sensorineural hearing impairment, Tinnitus, Profound sensori... ORPHA:90658
Mend Syndrome
Abnormal auditory evoked potentials, Seizure, Hypoplasia of the corpus callosum, Low-set ears, Fa... ORPHA:401973
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplas... ORPHA:2754
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Microcephaly, Tremor, Sensorineural hearing impairment, Generaliz... OMIM:612474
Hurler Syndrome
Recurrent respiratory infections, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis, A... ORPHA:93473
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Chiari type I malformation, ... ORPHA:261537
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Ataxia, Recurrent viral infections, Tremor, Recurrent opportu... OMIM:613179
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Resting tremor, Peripheral axonal neuropa... ORPHA:2388
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus ORPHA:43116
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Seizure, Cereb... OMIM:300967
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Increased body weight, Seizure, Lethargy ORPHA:263455
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Ataxia, Action tremor, Decrea... ORPHA:191
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Posteriorly rotated ears, Large for gestational age, Tremor, Cupped ear, Over... OMIM:614080
Mercury Poisoning
Tremor, Seizure, Dystonia ORPHA:330021
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Ort... ORPHA:217253
Encephalitis Lethargica
Bilateral basal ganglia lesions, Parkinsonism, Tremor, Seizure, Lethargy ORPHA:83600
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... ORPHA:2828
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Microcephaly, Optic atrophy, Hypertonia, Hypoplasia of the ... OMIM:617301
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... ORPHA:297
Pineoblastoma
Seizure, Paralysis ORPHA:251909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... OMIM:203700
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Low-set ears, Hearing impairment OMIM:261515
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Posteriorly rotated ears, Microcephaly, Rigidity, Generalized non-motor (absence... ORPHA:2636
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Helsmoortel-Van Der Aa Syndrome
Posteriorly rotated ears, Facial palsy, Tonic seizure, Typical absence seizure, Cupped ear, Obesi... OMIM:615873
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Leukoencephalopat... OMIM:612199
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Chiari type I malformation, ... ORPHA:261552
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Conductive hearing impairmen... ORPHA:2152
Kallmann Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Obesity, Paraplegia, Seizure, Gait disturbance ORPHA:478
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Dysplastic corpus callosum, Chiari type I malformation, Seizure, Pseudobu... ORPHA:466791
Inhalational Botulism
Paralysis ORPHA:254504
Andersen-Tawil Syndrome
Seizure, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Vocal cord paralysis, Seizure, Hyp... OMIM:617799
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Fascicu... ORPHA:2912
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Tremor, Macrotia, Seizure, Abnormality of extrapyramidal motor function, Low-set ea... OMIM:277400
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Tremor, Cond... ORPHA:821
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Seizure, Hypertonia, Secondar... OMIM:617248
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Recurrent ear infections, Decreased nerve conduction velocity, Sensori... ORPHA:580
Zttk Syndrome
Dysplastic corpus callosum, Optic atrophy, Protruding ear, Seizure, Abnormal cerebral white matte... OMIM:617140
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee clonus, Trunc... OMIM:211530
Gitelman Syndrome
Seizure, Ataxia, Paralysis OMIM:263800
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Microcephaly, Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Obesity, Failure... OMIM:617157
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal cerebellum morphology, Ataxia, Generalized non-motor (absence) seizure, Apraxia ORPHA:77293
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Cerebral calcification, Microcephaly, Tremor, Hemiple... ORPHA:51
Glossopharyngeal Neuralgia
Seizure, Vocal cord paralysis ORPHA:221098
Methylmalonic Aciduria, Cbla Type
Tremor, Seizure, Failure to thrive, Lethargy OMIM:251100
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Hearing impairment, Decreased amplitude of sensory a... ORPHA:36386
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive OMIM:615512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... OMIM:615287
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Abnormal myelination OMIM:617333
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Hearing impairment ORPHA:363444
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary m... ORPHA:438213
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Carpenter Syndrome 2
Posteriorly rotated ears, Sensorineural hearing impairment, Generalized non-motor (absence) seizu... OMIM:614976
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Seizure, Ataxia, Dystonia OMIM:256810
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Macrotia, Sensorineural hearing impairment, Failure to ... OMIM:151050
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Weight loss, Abnormal cerebral wh... OMIM:164310
Bohring-Opitz Syndrome
Seizure, Delayed peripheral myelination OMIM:605039
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bilateral tonic-clonic seizure with generalized onset, Paralysis, Oculomotor apraxia, Spastic par... ORPHA:2072
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Protruding ear, Colpocephaly, Chiari malfor... OMIM:618820
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Monosomy 18Q
Sensorineural hearing impairment, Poor coordination, Choreoathetosis, Bilateral conductive hearin... ORPHA:1600
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Cockayne Syndrome Type 3
Optic disc pallor, Demyelinating peripheral neuropathy, Unsteady gait, Adult onset sensorineural ... ORPHA:90324
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity, Low-set ears, Macrotia, Simple ear OMIM:619426
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Papilledema, Abnormal central motor function, Involu... ORPHA:3385
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Incoordination OMIM:223900
Witteveen-Kolk Syndrome
Small for gestational age, Poor motor coordination, Uplifted earlobe, Microcephaly, Dysplastic co... OMIM:613406
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Gitelman Syndrome
Focal-onset seizure, Paralysis ORPHA:358
Friedreich Ataxia 2
Babinski sign, Incoordination, Ataxia, Abnormality of peripheral nerve conduction OMIM:601992
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Tsh-Secreting Pituitary Adenoma
Tremor, Seizure, Periodic hypokalemic paresis ORPHA:91347
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microcephaly, Seizure, Microtia, Low-set ... OMIM:619522
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Alström Syndrome
Optic disc pallor, Incoordination, Ataxia, Typical absence seizure, Obesity, Poor fine motor coor... ORPHA:64
Degcags Syndrome
Posteriorly rotated ears, Hearing impairment, Sensorineural hearing impairment, Vocal cord paraly... OMIM:619488
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Recurrent Staphylococcus aureus infections, Abnormal... ORPHA:642
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Abnormal myelination ORPHA:434179

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 Mbp

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 Mbp.

There are 284 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MCU-independent Ca2+ uptake mediates mitochondrial Ca2+ overload and necrotic cell death in a mouse model of Duchenne muscular dystrophy. Scientific reports (March 2024) Mcubtm1c(KOMP)Mbp PMC10957967
IgLON5 deficiency produces behavioral alterations in a knockout mouse model. Frontiers in immunology (February 2024) Iglon5em1(IMPC)Mbp PMC10869603
TOX3 deficiency mitigates hyperglycemia by suppressing hepatic gluconeogenesis through FoxO1. Metabolism: clinical and experimental (December 2023) Tox3tm1c(KOMP)Mbp Tox3tm1a(KOMP)Mbp 38145825
The transcription factor VAX1 in VIP neurons of the suprachiasmatic nucleus impacts circadian rhythm generation, depressive-like behavior, and the reproductive axis in a sex-specific manner in mice. Frontiers in endocrinology (December 2023) Vax1tm1c(KOMP)Mbp PMC10777845
On the benefits of the tryptophan metabolite 3-hydroxyanthranilic acid in Caenorhabditis elegans and mouse aging. Nature communications (December 2023) Haaotm1b(KOMP)Mbp PMC10721613
The Sleep Quality- and Myopia-Linked PDE11A-Y727C Variant Impacts Neural Physiology by Reducing Catalytic Activity and Altering Subcellular Compartmentalization of the Enzyme. Cells (December 2023) Pde11aem1(IMPC)Mbp PMC10742168
Disrupting Poly(ADP-ribosyl)ating Pathway Creates Premalignant Conditions in Mammalian Liver. International journal of molecular sciences (December 2023) Pargtm2a(KOMP)Mbp PMC10743425
MCUb is an inducible regulator of calcium-dependent mitochondrial metabolism and substrate utilization in muscle. Cell reports (November 2023) Mcubtm1c(KOMP)Mbp PMC10842842
Mechanisms of cellular crosstalk in the gastric tumor microenvironment are mediated by YAP1 and STAT3. Life science alliance (November 2023) Yap1tm1a(KOMP)Mbp PMC10643184
Hepatic palmitoyl-proteomes and acyl-protein thioesterase protein proximity networks link lipid modification and mitochondria. Cell reports (November 2023) Lypla2tm1c(KOMP)Mbp Lypla2tm1a(KOMP)Mbp 37925639
DNA-PK and the TRF2 iDDR inhibit MRN-initiated resection at leading-end telomeres. Nature structural & molecular biology (August 2023) Xrcc6tm1c(KOMP)Mbp Xrcc6tm1a(KOMP)Mbp PMC10497418
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Gnpda1tm1b(KOMP)Mbp PMC10456929
Emergent mechanical control of vascular morphogenesis. Science advances (August 2023) Yap1tm1c(KOMP)Mbp PMC10421067
Differential Effects of Glutamine Inhibition Strategies on Antitumor CD8 T Cells. Journal of immunology (Baltimore, Md. : 1950) (August 2023) Glstm1c(KOMP)Mbp 37341499
Sex differences in the effects of brown adipocyte CD47 deficiency on age-related weight change and glucose homeostasis. Biochemical and biophysical research communications (July 2023) Cd47tm1c(KOMP)Mbp 37499367
Type 2 diabetes susceptibility gene GRK5 regulates physiological pancreatic β-cell proliferation via phosphorylation of HDAC5. iScience (July 2023) Grk5tm1c(KOMP)Mbp Grk5tm1a(KOMP)Mbp 37520700
Glutaminase 1 deficiency confined in forebrain neurons causes autism spectrum disorder-like behaviors. Cell reports (June 2023) Glstm1c(KOMP)Mbp Glstm1a(KOMP)Mbp 37384529
Gut microbial fatty acid isomerization modulates intraepithelial T cells. Nature (June 2023) Hnf4gem1(IMPC)Mbp 37380774
Taurine deficiency as a driver of aging. Science (New York, N.Y.) (June 2023) Slc6a6em1(IMPC)Mbp 37289866
CD47 Activation by Thrombospondin-1 in Lymphatic Endothelial Cells Suppresses Lymphangiogenesis and Promotes Atherosclerosis. Arteriosclerosis, thrombosis, and vascular biology (June 2023) Cd47tm1a(KOMP)Mbp PMC10281185
Myelin dysfunction drives amyloid-β deposition in models of Alzheimer's disease. Nature (May 2023) Mbptm1c(EUCOMM)Hmgu PMC10247380
Interneuronal GluK1 kainate receptors control maturation of GABAergic transmission and network synchrony in the hippocampus. Molecular brain (May 2023) Grik1tm1a(KOMP)Mbp PMC10199616
LSM14B is an Oocyte-Specific RNA-Binding Protein Indispensable for Maternal mRNA Metabolism and Oocyte Development in Mice. Advanced science (Weinheim, Baden-Wurttemberg, Germany) (April 2023) Lsm14btm1a(KOMP)Mbp PMC10288277
Enveloped viruses pseudotyped with mammalian myogenic cell fusogens target skeletal muscle for gene delivery. Cell (April 2023) Mymktm1c(KOMP)Mbp 37075755
High ploidy large cytoplasmic megakaryocytes are hematopoietic stem cells regulators and essential for platelet production. Nature communications (April 2023) Srsf3tm1c(KOMP)Mbp PMC10102126
Mitochondrial calcium uniporter b deletion inhibits platelet function and reduces susceptibility to arterial thrombosis. Journal of thrombosis and haemostasis : JTH (April 2023) Mcubtm1c(KOMP)Mbp Mcubtm1a(KOMP)Mbp Mcubtm1d(KOMP)Mbp 37061131
Endothelial FAT1 inhibits angiogenesis by controlling YAP/TAZ protein degradation via E3 ligase MIB2. Nature communications (April 2023) Yap1tm1c(KOMP)Mbp PMC10082778
SUN4 is a spermatid type II inner nuclear membrane protein that forms heteromeric assemblies with SUN3 and interacts with lamin B3. Journal of cell science (March 2023) Spag4tm1(KOMP)Mbp PMC10112980
Active enterohepatic cycling is not required for the choleretic actions of 24-norUrsodeoxycholic acid in mice. JCI insight (March 2023) Slc10a2tm1a(KOMP)Mbp PMC10070106
Palmitoylation couples insulin hypersecretion with β cell failure in diabetes. Cell metabolism (January 2023) Lypla2tm1a(KOMP)Mbp 36634673
Dysregulation of CD177+ neutrophils on intraepithelial lymphocytes exacerbates gut inflammation via decreasing microbiota-derived DMF. Gut microbes (January 2023) Cd177tm1(KOMP)Mbp PMC9897772
Netrin-3 Suppresses Diabetic Neuropathic Pain by Gating the Intra-epidermal Sprouting of Sensory Axons. Neuroscience bulletin (January 2023) Ntn3tm1(KOMP)Mbp 36587114
A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis. Nature communications (December 2022) Wdfy3tm1a(KOMP)Mbp PMC9789999
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia. International journal of molecular sciences (December 2022) Gpr179tm1a(KOMP)Mbp PMC9820543
Genetic ablation of diabetes-associated gene Ccdc92 reduces obesity and insulin resistance in mice. iScience (December 2022) Ccdc92tm1a(KOMP)Mbp PMC9804112
Deletion of macrophage Gpr101 disrupts their phenotype and function dysregulating host immune responses in sterile and infectious inflammation. Biochemical pharmacology (November 2022) Gpr101tm1a(KOMP)Mbp 36400250
RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. Science advances (October 2022) Ccdc88ctm1(KOMP)Mbp PMC9581478
UBR2 targets myosin heavy chain IIb and IIx for degradation: Molecular mechanism essential for cancer-induced muscle wasting. Proceedings of the National Academy of Sciences of the United States of America (October 2022) Ubr2tm1c(KOMP)Mbp Ubr2tm1a(KOMP)Mbp 36252004
Baat Gene Knockout Alters Post-Natal Development, the Gut Microbiome, and Reveals Unusual Bile Acids in Mice. Journal of lipid research (October 2022) Baatem1(IMPC)Mbp PMC9679037
In situ cell-type-specific cell-surface proteomic profiling in mice. Neuron (October 2022) Thsd7atm1b(KOMP)Mbp 36220098
Retinal neuroblast migration and ganglion cell layer organization require the cytoskeletal-interacting protein Mllt11. Developmental dynamics : an official publication of the American Association of Anatomists (October 2022) Mllt11tm1c(KOMP)Mbp 36131367
KLC3 Regulates Ciliary Trafficking and Cyst Progression in CILK1 Deficiency-Related Polycystic Kidney Disease. Journal of the American Society of Nephrology : JASN (August 2022) Cilk1tm1c(KOMP)Mbp Cilk1tm1a(KOMP)Mbp PMC9529174
Bile acid conjugation deficiency causes hypercholanemia, hyperphagia, islet dysfunction, and gut dysbiosis in mice. Hepatology communications (July 2022) Baatem1(IMPC)Mbp PMC9512455
Generation of a ceramide synthase 6 mouse lacking the DDRSDIE C-terminal motif. PloS one (July 2022) Cers5tm2b(KOMP)Mbp PMC9292091
Adipocyte lysoplasmalogenase TMEM86A regulates plasmalogen homeostasis and protein kinase A-dependent energy metabolism. Nature communications (July 2022) Tmem86atm1a(KOMP)Mbp PMC9283435
Rab11FIP1-deficient mice develop spontaneous inflammation and show increased susceptibility to colon damage. American journal of physiology. Gastrointestinal and liver physiology (July 2022) Rab11fip2em1(IMPC)Mbp 35819177
Hippo-TAZ signaling is the master regulator of the onset of triple-negative basal-like breast cancers. Proceedings of the National Academy of Sciences of the United States of America (July 2022) Yap1tm1c(KOMP)Mbp PMC9303858
A phospho-tyrosine-based signaling module using SPOP, CSK, and LYN controls TLR-induced IRF activity. Science advances (July 2022) Spoptm1a(KOMP)Mbp PMC9269885
Z-DNA is remodelled by ZBTB43 in prospermatogonia to safeguard the germline genome and epigenome. Nature cell biology (July 2022) Zbtb43tm1b(KOMP)Mbp/J PMC9276527
Cardiac natriuretic peptide deficiency sensitizes the heart to stress-induced ventricular arrhythmias via impaired CREB signalling. Cardiovascular research (July 2022) Nppbtm1(KOMP)Mbp PMC9302887
Inhibition of CSPG receptor PTPσ promotes migration of newly born neuroblasts, axonal sprouting, and recovery from stroke. Cell reports (July 2022) Ptprstm1b(KOMP)Mbp 35905716
WDFY3 mutation alters laminar position and morphology of cortical neurons. Molecular autism (June 2022) Wdfy3tm1a(KOMP)Mbp PMC9219247
3D structure and in situ arrangements of CatSper channel in the sperm flagellum. Nature communications (June 2022) Catsperztm1(KOMP)Mbp PMC9205950
An exercise-inducible metabolite that suppresses feeding and obesity. Nature (June 2022) Cndp2em1(IMPC)Mbp PMC9767481
DLX1 and the NuRD complex cooperate in enhancer decommissioning and transcriptional repression. Development (Cambridge, England) (June 2022) Rbbp4em1(IMPC)Mbp 35695185
Glutaminase inhibition impairs CD8 T cell activation in STK11-/Lkb1-deficient lung cancer. Cell metabolism (May 2022) Glstm1a(KOMP)Mbp 35504291
Cell-intrinsic Aryl Hydrocarbon Receptor signalling is required for the resolution of injury-induced colonic stem cells. Nature communications (April 2022) Ahrtm1a(KOMP)Mbp PMC8983642
Mllt11 Regulates Migration and Neurite Outgrowth of Cortical Projection Neurons during Development. The Journal of neuroscience : the official journal of the Society for Neuroscience (April 2022) Mllt11tm1a(KOMP)Mbp PMC9097781
Liver regeneration and ethanol detoxification: A new link in YAP regulation of ALDH1A1 during alcohol-related hepatocyte damage. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2022) Yap1tm1a(KOMP)Mbp PMC9126254
White matter integrity in mice requires continuous myelin synthesis at the inner tongue. Nature communications (March 2022) Mbptm1a(EUCOMM)Hmgu PMC8897471
The aryl hydrocarbon receptor contributes to tissue adaptation of intestinal eosinophils in mice. The Journal of experimental medicine (March 2022) Ahrtm1a(KOMP)Mbp PMC8899390
The RNA-binding protein SRSF3 has an essential role in megakaryocyte maturation and platelet production. Blood (March 2022) Srsf3tm1c(KOMP)Mbp 34852174
Collapsin Response Mediator Protein 1 (CRMP1) Is Required for High-Frequency Hearing. The American journal of pathology (February 2022) Crmp1em1(IMPC)Mbp 35181334
Neuralized-like protein 4 (NEURL4) mediates ADP-ribosylation of mitochondrial proteins. The Journal of cell biology (February 2022) Neurl4tm1(KOMP)Mbp PMC8932523
Highly enriched BEND3 prevents the premature activation of bivalent genes during differentiation. Science (New York, N.Y.) (February 2022) Bend3tm1a(KOMP)Mbp Bend3tm1b(KOMP)Mbp 35143257
Requirement of Xk and Vps13a for the P2X7-mediated phospholipid scrambling and cell lysis in mouse T cells. Proceedings of the National Academy of Sciences of the United States of America (February 2022) Xktm1a(KOMP)Mbp PMC8851519
gp130/STAT3 signaling is required for homeostatic proliferation and anabolism in postnatal growth plate and articular chondrocytes. Communications biology (January 2022) Il6sttm1a(KOMP)Mbp 35039652
Intestinal Gpr17 deficiency improves glucose metabolism by promoting GLP-1 secretion. Cell reports (January 2022) Gpr17tm1c(KOMP)Mbp 34986353
The TERB1 MYB domain suppresses telomere erosion in meiotic prophase I. Cell reports (January 2022) Terb1tm1a(KOMP)Mbp PMC8867601
TOX4, an insulin receptor-independent regulator of hepatic glucose production, is activated in diabetic liver. Cell metabolism (December 2021) Tox4tm1a(KOMP)Mbp 34914893
Regulation of positive and negative selection and TCR signaling during thymic T cell development by capicua. eLife (December 2021) Spry4tm1a(KOMP)Mbp PMC8700290
Ciliary Hedgehog signaling patterns the digestive system to generate mechanical forces driving elongation. Nature communications (December 2021) Cilk1tm1a(KOMP)Mbp PMC8664829
Protein Kinase SGK2 Is Induced by the β3 Adrenergic Receptor-cAMP-PKA-PGC-1α/NT-PGC-1α Axis but Dispensable for Brown/Beige Adipose Tissue Thermogenesis. Frontiers in physiology (November 2021) Sgk2em1(IMPC)Mbp PMC8657153
The KRAB Domain-Containing Protein ZFP961 Represses Adipose Thermogenesis and Energy Expenditure through Interaction with PPARα. Advanced science (Weinheim, Baden-Wurttemberg, Germany) (November 2021) Zfp961tm1.1(KOMP)Mbp PMC8805557
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease. Genes (November 2021) Cep290em1(IMPC)Mbp PMC8623546
Hepatocyte-Specific Deletion of Yes-Associated Protein Improves Recovery From Acetaminophen-Induced Acute Liver Injury. Toxicological sciences : an official journal of the Society of Toxicology (November 2021) Yap1tm1c(KOMP)Mbp 34546377
A non-canonical, interferon-independent signaling activity of cGAMP triggers DNA damage response signaling. Nature communications (October 2021) Irf3em1(IMPC)Mbp PMC8551335
Activation of the adipocyte CREB/CRTC pathway in obesity. Communications biology (October 2021) Cxcl1em1(IMPC)Mbp PMC8536733
Microglial glutaminase 1 deficiency mitigates neuroinflammation associated depression. Brain, behavior, and immunity (October 2021) Glstm1c(KOMP)Mbp Glstm1a(KOMP)Mbp 34678461
Downregulation of kainate receptors regulating GABAergic transmission in amygdala after early life stress is associated with anxiety-like behavior in rodents. Translational psychiatry (October 2021) Grik1tm1c(KOMP)Mbp PMC8523542
Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules. Scientific reports (October 2021) Ccdc88ctm1(KOMP)Mbp PMC8511111
XRCC3 loss leads to midgestational embryonic lethality in mice. DNA repair (September 2021) Xrcc3tm1b(KOMP)Mbp 34601382
The Functions of Cytochrome P450 ω-hydroxylases and the Associated Eicosanoids in Inflammation-Related Diseases. Frontiers in pharmacology (September 2021) Cyp4v3em1(IMPC)Mbp PMC8476763
Changes in ion channel expression and function associated with cardiac arrhythmogenic remodeling by Sorbs2. Biochimica et biophysica acta. Molecular basis of disease (September 2021) Sorbs2tm1.1(KOMP)Mbp 34487812
The transcription factors SIX3 and VAX1 are required for suprachiasmatic nucleus circadian output and fertility in female mice. Journal of neuroscience research (July 2021) Vax1tm1c(KOMP)Mbp 34212416
Planar cell polarity induces local microtubule bundling for coordinated ciliary beating. The Journal of cell biology (July 2021) Ccdc88ctm1(KOMP)Mbp 33929515
Wdfy3 regulates glycophagy, mitophagy, and synaptic plasticity. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (June 2021) Wdfy3tm1a(KOMP)Mbp PMC8669292
Disruption of GPR35 Signaling in Bone Marrow-Derived Cells Does Not Influence Vascular Inflammation and Atherosclerosis in Hyperlipidemic Mice. Metabolites (June 2021) Gpr35tm1(KOMP)VIcg/MbpMmucd PMC8303390
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation. Neuron (June 2021) C9orf72tm1(KOMP)Mbp 34133945
Kiss1 is differentially regulated in male and female mice by the homeodomain transcription factor VAX1. Molecular and cellular endocrinology (June 2021) Vax1tm1c(KOMP)Mbp 34098016
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Gnpda1tm1b(KOMP)Mbp PMC8163790
A potential role for somatostatin signaling in regulating retinal neurogenesis. Scientific reports (May 2021) Sstr2em1(IMPC)Mbp PMC8155210
EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nature communications (May 2021) Ccdc88ctm1.1(KOMP)Mbp PMC8129141
Neprilysin Inhibition Increases Glucagon Levels in Humans and Mice With Potential Effects on Amino Acid Metabolism. Journal of the Endocrine Society (May 2021) Glp1rtm1c(KOMP)Mbp PMC8317634
Conditional Loss of the Exocyst Component Exoc5 in Retinal Pigment Epithelium (RPE) Results in RPE Dysfunction, Photoreceptor Cell Degeneration, and Decreased Visual Function. International journal of molecular sciences (May 2021) Exoc5tm1c(KOMP)Mbp PMC8151988
Splice site m6A methylation prevents binding of U2AF35 to inhibit RNA splicing. Cell (April 2021) Mettl16tm1a(KOMP)Mbp PMC8208822
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency. International journal of molecular sciences (April 2021) Gpr179tm1a(KOMP)Mbp PMC8122890
Transcription Factor VAX1 Regulates the Regional Specification of the Subpallium Through Repressing Gsx2. Molecular neurobiology (April 2021) Vax1tm1b(KOMP)Mbp 33821423
Genomic variants within chromosome 14q32.32 regulate bone mass through MARK3 signaling in osteoblasts. The Journal of clinical investigation (April 2021) Mark3tm1a(KOMP)Mbp PMC8011892
Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis. The Journal of clinical investigation (April 2021) Phactr1em1(IMPC)Mbp PMC8262505
ARHGEF18/p114RhoGEF Coordinates PKA/CREB Signaling and Actomyosin Remodeling to Promote Trophoblast Cell-Cell Fusion During Placenta Morphogenesis. Frontiers in cell and developmental biology (March 2021) Arhgef18tm1a(KOMP)Mbp PMC8027320
Intact synapse structure and function after combined knockout of PTPδ, PTPσ, and LAR. eLife (March 2021) Ptprstm1a(KOMP)Mbp PMC7963474
Myofibroblast YAP/TAZ is dispensable for liver fibrosis in mice. Journal of hepatology (March 2021) Yap1tm1c(KOMP)Mbp 33675873
Disrupted glucose homeostasis and skeletal muscle-specific glucose uptake in an exocyst knockout mouse model. The Journal of biological chemistry (February 2021) Exoc5tm1c(KOMP)Mbp PMC8027262
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly. Cell metabolism (February 2021) C9orf72tm1.1(KOMP)Mbp 33545050
ZC3H4-a novel Cys-Cys-Cys-His-type zinc finger protein-is essential for early embryogenesis in mice†. Biology of reproduction (February 2021) Zc3h4em1(IMPC)Mbp 33246328
Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets. Blood (February 2021) Gja10em2(IMPC)Mbp PMC7885822
Elevated postischemic tissue injury and leukocyte-endothelial adhesive interactions in mice with global deficiency in caveolin-2: role of PAI-1. American journal of physiology. Heart and circulatory physiology (January 2021) Cav2tm1(KOMP)Mbp 33416452
Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models. eLife (December 2020) Cilk1tm1a(KOMP)Mbp PMC7806262
Subcellular sorting of neuregulins controls the assembly of excitatory-inhibitory cortical circuits. eLife (December 2020) Nrg3tm1a(KOMP)Mbp PMC7755390
Nuclear numbers in syncytial muscle fibers promote size but limit the development of larger myonuclear domains. Nature communications (December 2020) Mymktm1c(KOMP)Mbp PMC7722938
YAP/TAZ Are Required to Suppress Osteogenic Differentiation of Vascular Smooth Muscle Cells. iScience (November 2020) Yap1tm1c(KOMP)Mbp PMC7726335
Short Disordered Epitope of CRTAM Ig-Like V Domain as a Potential Target for Blocking Antibodies. International journal of molecular sciences (November 2020) Crtamtm1(KOMP)Mbp PMC7699905
Dedicated transcriptomics combined with power analysis lead to functional understanding of genes with weak phenotypic changes in knockout lines. PLoS computational biology (November 2020) A830005F24Riktm1.1(KOMP)Mbp PMC7685438
Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. Development (Cambridge, England) (November 2020) Yap1tm1c(KOMP)Mbp PMC7673359
Differentially altered social dominance- and cooperative-like behaviors in Shank2- and Shank3-mutant mice. Molecular autism (October 2020) Shank3tm1d(KOMP)Mbp PMC7602353
YAP and TAZ protect against white adipocyte cell death during obesity. Nature communications (October 2020) Yap1tm1a(KOMP)Mbp PMC7595161
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration. eLife (October 2020) Nmnat3tm1(KOMP)Mbp PMC7591247
MICU3 Plays an Important Role in Cardiovascular Function. Circulation research (October 2020) Micu3em1(IMPC)Mbp 33059536
LAR-RPTPs Directly Interact with Neurexins to Coordinate Bidirectional Assembly of Molecular Machineries. The Journal of neuroscience : the official journal of the Society for Neuroscience (October 2020) Ptprstm1c(KOMP)Mbp 33037075
A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction. Cardiovascular research (September 2020) Jcadtm1(KOMP)Mbp PMC7449560
Cortical RORβ is required for layer 4 transcriptional identity and barrel integrity. eLife (August 2020) Thsd7atm1b(KOMP)Mbp PMC7492084
Endogenous YAP1 activation drives immediate onset of cervical carcinoma in situ in mice. Cancer science (August 2020) Yap1tm1c(KOMP)Mbp PMC7541006
C9orf72 in myeloid cells suppresses STING-induced inflammation. Nature (August 2020) C9orf72tm1(KOMP)Mbp 32814898
Knockout of SORBS2 Protein Disrupts the Structural Integrity of Intercalated Disc and Manifests Features of Arrhythmogenic Cardiomyopathy. Journal of the American Heart Association (August 2020) Sorbs2tm1.1(KOMP)Mbp PMC7660791
Stem cell regionalization during olfactory bulb neurogenesis depends on regulatory interactions between Vax1 and Pax6. eLife (August 2020) Vax1tm1c(KOMP)Mbp PMC7440913
Cooperation Between MYC and β-Catenin in Liver Tumorigenesis Requires Yap/Taz. Hepatology (Baltimore, Md.) (July 2020) Yap1tm1c(KOMP)Mbp 31965581
Butyrophilin-like proteins display combinatorial diversity in selecting and maintaining signature intraepithelial γδ T cell compartments. Nature communications (July 2020) Btnl1tm1(KOMP)Mbp PMC7387338
Complex Interactions between Genes and Social Environment Cause Phenotypes Associated with Autism Spectrum Disorders in Mice. eNeuro (July 2020) Cyfip1tm1a(KOMP)Mbp PMC7418534
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Csf2tm1.1(KOMP)Mbp Daptm1a(KOMP)Mbp Lrrk2tm1.1(KOMP)Mbp Lsm14btm1b(KOMP)Mbp Lyrm9tm1a(KOMP)Mbp Sap130tm1a(KOMP)Mbp PMC7263671
Cytoplasmic Dynein Functions in Planar Polarization of Basal Bodies within Ciliated Cells. iScience (June 2020) Ccdc88ctm1(KOMP)Mbp PMC7300155
Loss of RBBP4 results in defective inner cell mass, severe apoptosis, hyperacetylated histones and preimplantation lethality in mice†. Biology of reproduction (June 2020) Rbbp4em1(IMPC)Mbp 32285100
PTPσ Controls Presynaptic Organization of Neurotransmitter Release Machinery at Excitatory Synapses. iScience (May 2020) Ptprstm1c(KOMP)Mbp PMC7284068
Cortical bone maturation in mice requires SOCS3 suppression of gp130/STAT3 signalling in osteocytes. eLife (May 2020) IL6sttm1a(KOMP)Mbp PMC7253175
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Mrpl22tm1b(KOMP)Mbp 32376682
YAP1/TAZ drives ependymoma-like tumour formation in mice. Nature communications (May 2020) Yap1tm1c(KOMP)Mbp PMC7220953
Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers. JCI insight (May 2020) Mymktm1c(KOMP)Mbp PMC7253022
B-type natriuretic peptide is upregulated by c-Jun N-terminal kinase and contributes to septic hypotension. JCI insight (April 2020) Nppbtm1(KOMP)Mbp PMC7205432
MCUb Induction Protects the Heart From Postischemic Remodeling. Circulation research (April 2020) Mcubtm1c(KOMP)Mbp Mcubtm1a(KOMP)Mbp 32299299
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Clcc1tm1b(KOMP)Mbp 32290105
Endothelial Palmitoylation Cycling Coordinates Vessel Remodeling in Peripheral Artery Disease. Circulation research (April 2020) Lypla2tm1a(KOMP)Mbp 32233916
Yap1 is required for maintenance of adult RPE differentiation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (March 2020) Yap1tm1a(KOMP)Mbp 32223016
Kainate receptors regulate development of glutamatergic synaptic circuitry in the rodent amygdala. eLife (March 2020) Grik1tm1a(KOMP)Mbp PMC7117908
YAP1 is a potent driver of the onset and progression of oral squamous cell carcinoma. Science advances (March 2020) Yap1tm1c(KOMP)Mbp PMC7080500
HIPK4 is essential for murine spermiogenesis. eLife (March 2020) Hipk4tm1b(KOMP)Mbp PMC7067585
Cofilin-1-induced actin reorganization in stored platelets. Transfusion (March 2020) Cfl1tm1a(KOMP)Mbp PMC7204406
Presynaptic PTPσ regulates postsynaptic NMDA receptor function through direct adhesion-independent mechanisms. eLife (March 2020) Ptrpstm1a(KOMP)Mbp PMC7069723
LRRK2 maintains mitochondrial homeostasis and regulates innate immune responses to Mycobacterium tuberculosis. eLife (February 2020) Lrrk2tm1.1(KOMP)Mbp PMC7159881
HDAC10 deletion promotes Foxp3+ T-regulatory cell function. Scientific reports (January 2020) Hdac10tm1.1(KOMP)Mbp PMC6965082
Biomimetic tissue models reveal the role of hyaluronan in melanoma proliferation and invasion. Biomaterials science (January 2020) Has2tm2c(KOMP)Mbp Has2tm2a(KOMP)Mbp 31939453
Targeting downstream subcellular YAP activity as a function of matrix stiffness with Verteporfin-encapsulated chitosan microsphere attenuates osteoarthritis. Biomaterials (December 2019) Yap1tm1c(KOMP)Mbp 31918221
Glucagon-Like Peptide 1 and Atrial Natriuretic Peptide in a Female Mouse Model of Obstructive Pulmonary Disease. Journal of the Endocrine Society (December 2019) Glp1rtm1c(KOMP)Mbp PMC6984785
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Daptm1a(KOMP)Mbp Lyrm9tm1a(KOMP)Mbp Sap130tm1a(KOMP)Mbp PMC7338221
Caveolin-2 deficiency induces a rapid anti-tumor immune response prior to regression of implanted murine lung carcinoma tumors. Scientific reports (December 2019) Cav2tm1(KOMP)Mbp PMC6908574
PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation. Human molecular genetics (December 2019) Prcdtm1(KOMP)Mbp Prcdtm1.1(KOMP)Mbp 31628458
The Homeodomain Transcription Factors Vax1 and Six6 Are Required for SCN Development and Function. Molecular neurobiology (November 2019) Vax1tm1c(KOMP)Mbp 31705443
Primary cilia and the exocyst are linked to urinary extracellular vesicle production and content. The Journal of biological chemistry (November 2019) Exoc5tm1c(KOMP)Mbp PMC6916495
Epithelial CD47 is critical for mucosal repair in the murine intestine in vivo. Nature communications (November 2019) Cd47tm1a(KOMP)Mbp PMC6825175
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. The Journal of comparative neurology (October 2019) Aph1atm1b(KOMP)Mbp 31609468
Gpr17 deficiency in POMC neurons ameliorates the metabolic derangements caused by long-term high-fat diet feeding. Nutrition & diabetes (October 2019) Gpr17tm1c(KOMP)Mbp PMC6791877
Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis. Circulation (August 2019) Exoc5tm1c(KOMP)Mbp PMC6989054
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. Scientific reports (August 2019) Dcttm1b(KOMP)Mbp PMC6672016
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Csf2tm1.1(KOMP)Mbp Daptm1a(KOMP)Mbp Lrrk2tm1.1(KOMP)Mbp Lsm14btm1b(KOMP)Mbp Lyrm9tm1a(KOMP)Mbp Sap130tm1a(KOMP)Mbp PMC6671969
Genetic Deficiency of Flavin-Containing Monooxygenase 3 ( Fmo3) Protects Against Thrombosis but Has Only a Minor Effect on Plasma Lipid Levels-Brief Report. Arteriosclerosis, thrombosis, and vascular biology (June 2019) Fmo3tm1a(KOMP)Mbp PMC6531332
CRTAM Shapes the Gut Microbiota and Enhances the Severity of Infection. Journal of immunology (Baltimore, Md. : 1950) (May 2019) Crtamtm1(KOMP)Mbp 31142601
YAP, but Not RSPO-LGR4/5, Signaling in Biliary Epithelial Cells Promotes a Ductular Reaction in Response to Liver Injury. Cell stem cell (May 2019) Yap1tm1a(KOMP)Mbp 31080135
Regulation of Wnt Singaling Pathway by Poly (ADP-Ribose) Glycohydrolase (PARG) Silencing Suppresses Lung Cancer in Mice Induced by Benzo(a)pyrene Inhalation Exposure. Frontiers in pharmacology (May 2019) Pargtm2b(KOMP)Mbp PMC6509174
TMEM33 regulates intracellular calcium homeostasis in renal tubular epithelial cells. Nature communications (May 2019) Tmem33tm1(KOMP)Mbp PMC6497644
Dual Sensing of Physiologic pH and Calcium by EFCAB9 Regulates Sperm Motility. Cell (May 2019) Catsperztm1(KOMP)Mbp 31056283
Amelioration of muscle wasting by glucagon-like peptide-1 receptor agonist in muscle atrophy. Journal of cachexia, sarcopenia and muscle (April 2019) Glp1rtm1c(KOMP)Mbp PMC6711418
Myonuclear accretion is a determinant of exercise-induced remodeling in skeletal muscle. eLife (April 2019) Mymktm1c(KOMP)Mbp PMC6497442
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Daptm1a(KOMP)Mbp Lyrm9tm1a(KOMP)Mbp Sap130tm1a(KOMP)Mbp PMC6459510
CRISP2 Is a Regulator of Multiple Aspects of Sperm Function and Male Fertility. Endocrinology (April 2019) Crisp2tm1a(KOMP)Mbp 30759213
Regulation of NGF Signaling by an Axonal Untranslated mRNA. Neuron (March 2019) Trp53inp2tm1a(KOMP)Mbp PMC6509357
TMPRSS2 Contributes to Virus Spread and Immunopathology in the Airways of Murine Models after Coronavirus Infection. Journal of virology (March 2019) Trp53inp2tm1a(KOMP)Mbp PMC6401451
Female-biased embryonic death from inflammation induced by genomic instability. Nature (February 2019) Mcm5tm1a(KOMP)Mbp 30787433
Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase. Proceedings of the National Academy of Sciences of the United States of America (February 2019) Icktm1a(KOMP)Mbp PMC6410813
Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1 +/-) in mice. Molecular vision (February 2019) Yap1tm1a(KOMP)Mbp PMC6382475
Multiple receptors converge on H2-Q10 to regulate NK and γδT-cell development. Immunology and cell biology (January 2019) H2-Q10tm1.1(KOMP)Mbp 30537346
ENSA and ARPP19 differentially control cell cycle progression and development. The Journal of cell biology (January 2019) Arpp19tm1a(KOMP)Mbp PMC6363464
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. PLoS genetics (November 2018) Kif6tm1a(KOMP)Mbp PMC6307780
DAMP-Inducing Adjuvant and PAMP Adjuvants Parallelly Enhance Protective Type-2 and Type-1 Immune Responses to Influenza Split Vaccination. Frontiers in Immunology (November 2018) Tmem173tm1(KOMP)Mbp PMC6255964
Distinct Regulation of Th17 and Th1 Cell Differentiation by Glutaminase-Dependent Metabolism. Cell (November 2018) Glstm1c(KOMP)Mbp Glstm1a(KOMP)Mbp 30392958
A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress. Genes & development (October 2018) C9orf72tm1.1(KOMP)Mbp 30366907
Two RNase H2 Mutants with Differential rNMP Processing Activity Reveal a Threshold of Ribonucleotide Tolerance for Embryonic Development. Cell reports (October 2018) Tmem173tm1.1(KOMP)Mbp PMC6309994
Pitx2 maintains mitochondrial function during regeneration to prevent myocardial fat deposition. Development (Cambridge, England) (September 2018) Cox7ctm1b(KOMP)Mbp 30143541
A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development. Developmental biology (September 2018) Nr2f1tm1.1(KOMP)Mbp 30217595
Deficiency in augmenter of liver regeneration accelerates liver fibrosis by promoting migration of hepatic stellate cell. Biochimica et biophysica acta. Molecular basis of disease (September 2018) Gfertm1(KOMP)Mbp 30251695
UBXN2A enhances CHIP-mediated proteasomal degradation of oncoprotein mortalin-2 in cancer cells. Molecular Oncology (September 2018) UBXN2Atm1a(KOMP)Mbp PMC6166003
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS genetics (August 2018) Clcc1tm1b(KOMP)Mbp PMC6133373
Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy. Scientific reports (July 2018) Wdfy3tm1a(KOMP)Mbp PMC6063930
Mining the Plasma Cell Transcriptome for Novel Cell Surface Proteins. International journal of molecular sciences (July 2018) Plpp5tm1(KOMP)Mbp PMC6121261
Temporal Profiling Establishes a Dynamic S-Palmitoylation Cycle. ACS chemical biology (May 2018) Lypla2tm1a(KOMP)Mbp Lypla2tm1b(KOMP)Mbp 29733200
SRSF3 promotes pluripotency through Nanog mRNA export and coordination of the pluripotency gene expression program. eLife (May 2018) Srsf3tm1a(KOMP)Mbp PMC5963917
Ultra-structure of the sperm head-to-tail linkage complex in the absence of the spermatid-specific LINC component SPAG4. Histochemistry and cell biology (April 2018) Spag4tm1(KOMP)Mbp 29663073
Adar3 Is Involved in Learning and Memory in Mice. Frontiers in neuroscience (April 2018) Adarb2tm1a(KOMP)Mbp PMC5914295
Glutamate transporter Slc1a3 mediates inter-niche stem cell activation during skin growth. The EMBO journal (April 2018) Slc1a3tm1.1(KOMP)Mbp PMC5920238
YAP and TAZ are dispensable for physiological and malignant haematopoiesis. Leukemia (March 2018) Yap1tm1c(KOMP)Mbp PMC6127083
Loss of Mob1a/b in mice results in chondrodysplasia due to YAP1/TAZ-TEAD-dependent repression of SOX9. Development (Cambridge, England) (March 2018) Yap1tm1c(KOMP)Mbp 29511023
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. The New England journal of medicine (March 2018) Cilk1tm1a(KOMP)Mbp 29539279
CD177+ neutrophils suppress epithelial cell tumourigenesis in colitis-associated cancer and predict good prognosis in colorectal cancer. Carcinogenesis (February 2018) Cd177tm1(KOMP)Mbp 29228136
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Biochimica et biophysica acta. Molecular basis of disease (January 2018) Vipas39tm1c(KOMP)Mbp PMC5906731
Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing. Molecular neurobiology (January 2018) Exoc5tm1c(KOMP)Mbp PMC6984595
Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Ccdc88ctm1(KOMP)Mbp Ccdc88ctm1.1(KOMP)Mbp PMC5748220
Cadm2 regulates body weight and energy homeostasis in mice. Molecular metabolism (November 2017) Cadm2tm1a(KOMP)Mbp PMC5985021
A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development. Calcified tissue international (November 2017) Cilk1tm1a(KOMP)Mbp PMC5820141
Distinct TERB1 Domains Regulate Different Protein Interactions in Meiotic Telomere Movement. Cell reports (November 2017) Terb1tm1a(KOMP)Mbp Majintm1a(KOMP)Mbp 29141207
Dissecting the telomere-inner nuclear membrane interface formed in meiosis. Nature structural & molecular biology (October 2017) Terb1tm1a(KOMP)Mbp PMC5755706
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ccdc88ctm1b(KOMP)Mbp Ccdc92tm1b(KOMP)Mbp PMC5638796
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Sap130tm1a(KOMP)Mbp PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Daptm1a(KOMP)Mbp Lyrm9tm1a(KOMP)Mbp Sap130tm1a(KOMP)Mbp PMC5827107
Whole exome sequencing reveals a functional mutation in the GAIN domain of the Bai2 receptor underlying a forward mutagenesis hyperactivity QTL. Mammalian genome : official journal of the International Mammalian Genome Society (September 2017) Adgrb2tm1b(KOMP)Mbp 28894906
The RNA-binding protein Rbm38 is dispensable during pressure overload-induced cardiac remodeling in mice. PloS one (August 2017) Rbm38tm1a(KOMP)Mbp PMC5574583
The exocyst is required for photoreceptor ciliogenesis and retinal development. The Journal of biological chemistry (July 2017) Exoc5tm1c(KOMP)Mbp PMC5592663
Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog. Scientific reports (July 2017) 3110043O21Riktm1.1(KOMP)Mbp PMC5515847
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Btg2tm1b(KOMP)Mbp Cenpotm1b(KOMP)Mbp Cers5tm2b(KOMP)Mbp Chp2tm1b(KOMP)Mbp Il6sttm1b(KOMP)Mbp Jam2tm1.1(KOMP)Mbp Mdktm1.1(KOMP)Mbp Parp16tm1.1(KOMP)Mbp Pcsk5tm1b(KOMP)Mbp Sgtatm1b(KOMP)Mbp Sorbs2tm1(KOMP)Mbp Sorbs2tm1.1(KOMP)Mbp Spag4tm1.1(KOMP)Mbp Vsig8tm1.1(KOMP)Mbp Zfp42tm1b(KOMP)Mbp Zfp961tm1.1(KOMP)Mbp PMC5503261
Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. Cell reports (July 2017) Ccdc88ctm1(KOMP)Mbp 28746879
Regulation of body weight and energy homeostasis by neuronal cell adhesion molecule 1. Nature neuroscience (June 2017) Cadm2tm1a(KOMP)Mbp PMC5533218
Patterning and gastrulation defects caused by the tw18 lethal are due to loss of Ppp2r1a. Biology open (June 2017) Ppp2r1atm1a(KOMP)Mbp PMC5483016
Generation and characterization of mouse knockout for glyoxalase 1. Biochemical and biophysical research communications (June 2017) Glo1tm1a(KOMP)Mbp 28623132
The complex genetics of hypoplastic left heart syndrome. Nature genetics (May 2017) Sap130tm1a(KOMP)Mbp PMC5737968
CD177+ neutrophils as functionally activated neutrophils negatively regulate IBD. Gut (May 2017) Cd177tm1(KOMP)Mbp 28468761
Distribution of ASIC4 transcripts in the adult wild-type mouse brain. Neuroscience letters (April 2017) Asic4tm1a(KOMP)Mbp 28461138
TNF-α promotes extracellular vesicle release in mouse astrocytes through glutaminase. Journal of neuroinflammation (April 2017) Glstm1a(KOMP)Mbp PMC5399318
Spop regulates Gli3 activity and Shh signaling in dorsoventral patterning of the mouse spinal cord. Developmental biology (April 2017) Spoptm1a(KOMP)Mbp 28412462
MOB1-YAP1/TAZ-NKX2.1 axis controls bronchioalveolar cell differentiation, adhesion and tumour formation. Oncogene (March 2017) Yap1tm1a(KOMP)Mbp 28346423
CatSperζ regulates the structural continuity of sperm Ca2+ signaling domains and is required for normal fertility. eLife (February 2017) Catsperztm1(KOMP)Mbp PMC5362262
Requirement of myomaker-mediated stem cell fusion for skeletal muscle hypertrophy. eLife (February 2017) Mymktm1c(KOMP)Mbp PMC5338923
Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. Proceedings of the National Academy of Sciences of the United States of America (February 2017) Cabp2tm1a(KOMP)Mbp Cabp2tm1b(KOMP)Mbp PMC5338518
A UBE2O-AMPKα2 Axis that Promotes Tumor Initiation and Progression Offers Opportunities for Therapy. Cancer cell (February 2017) Ube2otm1(KOMP)Mbp Ube2otm1.1(KOMP)Mbp PMC5463996
Spop promotes skeletal development and homeostasis by positively regulating Ihh signaling. Proceedings of the National Academy of Sciences of the United States of America (December 2016) Spoptm1a(KOMP)Mbp PMC5187670
Efficient gene targeting in mouse zygotes mediated by CRISPR/Cas9-protein. Transgenic research (November 2016) Ano3em2(IMPC)Mbp Ces1dem1(IMPC)Mbp Nalcnem1(IMPC)Mbp Asic4em2(IMPC)Mbp Rnf10em1(IMPC)Mbp Dnase1l2em2(IMPC)Mbp Ap4e1em2(IMPC)Mbp Nxnem1(IMPC)Mbp Dbn1em2(IMPC)Mbp PMC5350237
Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. PLoS genetics (November 2016) C9orf72tm1.1(KOMP)Mbp PMC5119725
Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module. Cell systems (November 2016) Mark3tm1a(KOMP)Mbp PMC5269473
Adaptor Protein CD2AP and L-type Lectin LMAN2 Regulate Exosome Cargo Protein Trafficking through the Golgi Complex. The Journal of biological chemistry (October 2016) Kcna10em2(IMPC)Mbp Mcts1em1(IMPC)Mbp PMC5207247
In vivo myomaker-mediated heterologous fusion and nuclear reprogramming. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (October 2016) Mymktm1c(KOMP)Mbp PMC5161518
Study of corneal epithelial progenitor origin and the Yap1 requirement using keratin 12 lineage tracing transgenic mice. Scientific reports (October 2016) Yap1tm1a(KOMP)Mbp PMC5062132
Deficiency of RITA results in multiple mitotic defects by affecting microtubule dynamics. Oncogene (October 2016) Rita1tm1e(KOMP)Mbp 27721410
Epithelia Use Butyrophilin-like Molecules to Shape Organ-Specific γδ T Cell Compartments. Cell (September 2016) Btnl4tm1(KOMP)Mbp PMC5037318
Fibroproliferative response to urothelial failure obliterates the ureter lumen in a mouse model of prenatal congenital obstructive nephropathy. Scientific reports (August 2016) Exoc5tm1c(KOMP)Mbp PMC4980620
Somatodendritic Expression of JAM2 Inhibits Oligodendrocyte Myelination. Neuron (August 2016) Jam2tm1.1(KOMP)Mbp PMC4990461
A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. Neuroscience communications (August 2016) Vax1tm1a(KOMP)Mbp PMC5287408
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Human molecular genetics (July 2016) Icktm1a(KOMP)Mbp PMC5291234
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature communications (July 2016) Vipas39tm1c(KOMP)Mbp Vipas39tm1a(KOMP)Mbp PMC4961739
Changes in expression of C2cd4c in pancreatic endocrine cells during pancreatic development. FEBS letters (July 2016) C2cd4ctm1(KOMP)Mbp PMC5129588
Autophagy-linked FYVE containing protein WDFY3 interacts with TRAF6 and modulates RANKL-induced osteoclastogenesis. Journal of autoimmunity (June 2016) Wdfy3tm1a(KOMP)Mbp Wdfy3tm1c(KOMP)Mbp PMC5003737
Attenuated rapid onset vasodilation with greater force production in skeletal muscle of caveolin-2-/- mice. American journal of physiology. Heart and circulatory physiology (June 2016) Cav2tm1(KOMP)Mbp PMC5008651
YAP1 and TAZ Control Pancreatic Cancer Initiation in Mice by Direct Up-regulation of JAK-STAT3 Signaling. Gastroenterology (May 2016) Yap1tm1c(KOMP)Mbp Yap1tm1a(KOMP)Mbp PMC5007286
Integrin signalling regulates YAP and TAZ to control skin homeostasis. Development (Cambridge, England) (March 2016) Yap1tm1c(KOMP)Mbp PMC4874484
Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility. The Journal of neuroscience : the official journal of the Society for Neuroscience (March 2016) Vax1tm1c(KOMP)Mbp Vax1tm1a(KOMP)Mbp PMC4804008
C9orf72 is required for proper macrophage and microglial function in mice. Science (New York, N.Y.) (March 2016) C9orf72tm1(KOMP)Mbp PMC5120541
RNA-binding Protein PCBP2 Regulates p73 Expression and p73-dependent Antioxidant Defense. The Journal of biological chemistry (February 2016) Pcbp2tm1(KOMP)Mbp PMC4850300
Structure-function analysis of myomaker domains required for myoblast fusion. Proceedings of the National Academy of Sciences of the United States of America (February 2016) Mymktm1c(KOMP)Mbp PMC4776501
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Plekha8tm1a(KOMP)Mbp Slc1a3tm1(KOMP)Mbp PMC4739719
No obvious phenotypic abnormalities in mice lacking the Pate4 gene. Biochemical and biophysical research communications (December 2015) Pate4tm1(KOMP)Mbp 26731031
Dysregulated YAP1/TAZ and TGF-β signaling mediate hepatocarcinogenesis in Mob1a/1b-deficient mice. Proceedings of the National Academy of Sciences of the United States of America (December 2015) Yap1tm1c(KOMP)Mbp PMC4711826
Novel genetic tools facilitate the study of cortical neuron migration. Mammalian genome : official journal of the International Mammalian Genome Society (December 2015) Relntm1a(KOMP)Mbp PMC4732900
Control of PD-L1 Expression by Oncogenic Activation of the AKT-mTOR Pathway in Non-Small Cell Lung Cancer. Cancer research (December 2015) Paicsem1(IMPC)Mbp Lmod3em1(IMPC)Mbp 26637667
The E3 Ubiquitin Ligase TRIM9 Is a Filopodia Off Switch Required for Netrin-Dependent Axon Guidance. Developmental cell (December 2015) Trim9tm1a(KOMP)Mbp PMC4707677
The LINC complex component Sun4 plays a crucial role in sperm head formation and fertility. Biology open (November 2015) Spag4tm1(KOMP)Mbp PMC4736043
Arl13b and the exocyst interact synergistically in ciliogenesis. Molecular biology of the cell (November 2015) Exoc5tm1c(KOMP)Mbp PMC4713133
MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. Cell (November 2015) Terb1tm1a(KOMP)Mbp 26548954
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice. PLoS genetics (October 2015) Poc1atm1(KOMP)Mbp PMC4619696
Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America (October 2015) Sptssbtm1b(KOMP)Mbp PMC4620873
Protein Tyrosine Phosphatase PTPRS Is an Inhibitory Receptor on Human and Murine Plasmacytoid Dendritic Cells. Immunity (July 2015) Ptprstm1a(KOMP)Mbp PMC4547994
Gpr17 in AgRP Neurons Regulates Feeding and Sensitivity to Insulin and Leptin. Diabetes (July 2015) Gpr17tm1a(KOMP)Mbp PMC4613971
Urothelial Defects from Targeted Inactivation of Exocyst Sec10 in Mice Cause Ureteropelvic Junction Obstructions. PloS one (June 2015) Exoc5tm1c(KOMP)Mbp Exoc5tm1a(KOMP)Mbp PMC4457632
The exocyst gene Sec10 regulates renal epithelial monolayer homeostasis and apoptotic sensitivity. American journal of physiology. Cell physiology (June 2015) Exoc5tm1a(KOMP)Mbp PMC4525081
Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress. Stem cells (Dayton, Ohio) (May 2015) Faap20tm1(KOMP)Mbp PMC4478209
Deceleration of liver regeneration by knockdown of augmenter of liver regeneration gene is associated with impairment of mitochondrial DNA synthesis in mice. American journal of physiology. Gastrointestinal and liver physiology (May 2015) Gfertm1(KOMP)Mbp 25977511
Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. Frontiers in cellular neuroscience (March 2015) Shank3tm1c(KOMP)Mbp Shank3tm1a(KOMP)Mbp Shank3tm1d(KOMP)Mbp PMC4365696
Mutations in the microtubule-associated protein 1A (Map1a) gene cause Purkinje cell degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience (March 2015) Map1atm1.2(KOMP)Mbp Map1atm1(KOMP)Mbp PMC4363387
Host deficiency in caveolin-2 inhibits lung carcinoma tumor growth by impairing tumor angiogenesis. Cancer research (September 2014) Cav2tm1(KOMP)Mbp PMC4233177
TIPE3 is the transfer protein of lipid second messengers that promote cancer. Cancer cell (September 2014) Tnfaip8l3tm1a(KOMP)Mbp PMC4198483
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nature communications (September 2014) Wdfy3tm1a(KOMP)Mbp Wdfy3tm1c(KOMP)Mbp PMC4159772
Myomaker is essential for muscle regeneration. Genes & development (August 2014) Mymktm1c(KOMP)Mbp Mymktm1a(KOMP)Mbp PMC4117939
NACK is an integral component of the Notch transcriptional activation complex and is critical for development and tumorigenesis. Cancer research (July 2014) Prag1tm1a(KOMP)Mbp PMC4154994
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. Proceedings of the National Academy of Sciences of the United States of America (May 2014) Icktm1a(KOMP)Mbp PMC4060650
Loss of Mpzl3 function causes various skin abnormalities and greatly reduced adipose depots. The Journal of investigative dermatology (February 2014) Mpzl3tm1(KOMP)Mbp PMC4057944
The TRF1-binding protein TERB1 promotes chromosome movement and telomere rigidity in meiosis. Nature cell biology (January 2014) Terb1tm1a(KOMP)Mbp 24413433
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Setd6tm1(KOMP)Mbp PMC3699516
The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells. Nature immunology (June 2013) Carmil2tm1a(KOMP)Mbp 23793062
The cells and circuitry for itch responses in mice. Science (New York, N.Y.) (May 2013) Nppbtm1(KOMP)Mbp PMC3670709
The receptor Ly108 functions as a SAP adaptor-dependent on-off switch for T cell help to B cells and NKT cell development. Immunity (June 2012) Slamf6tm1(KOMP)Mbp PMC3389310

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MGI Allele Allele Type Produced
Mbptm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mbptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbptm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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