Gene: Zfp24 MGI:1929704

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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:
zinc finger protein 24
Synonyms:
KOX17,  ZF-12,  3526401F17Rik,  5033419P20Rik,  Zfp191

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Zfp24 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 Zfp24 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:601068
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus, Jerk-loc... OMIM:615127
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure OMIM:617831
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Focal-onset seizure, Bilateral tonic-clonic seizure, G... OMIM:613608
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyrami... OMIM:614561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Pelizaeus-Merzbacher Disease
Tremor, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyramidal sign, ... OMIM:312080
Periventricular Nodular Heterotopia 8
Seizure, Delayed myelination, Spasticity OMIM:618185
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Seizure, Tetraplegia, Status epilepticus, Delayed myelination OMIM:618331
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Hearing impairment, Hand tremor, Progressive spastic... ORPHA:401830
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Hypsarrhythmia, Spastic diplegia, Seizure, Status epilepticus, Stereotypy, O... OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, EEG with spike-wave complexes, Atonic seizure, Absence seizu... OMIM:618587
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Abnormal myelination, Babinski sign, Abnormality of peripheral nerve conducti... ORPHA:431329
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Continuous Spikes And Waves During Sleep
Clumsiness, Speech apraxia, EEG with generalized polyspikes, Atonic seizure, Focal-onset seizure,... ORPHA:725
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Ataxia, Seizure, Lower limb spasticity, Sensorineural hearing i... ORPHA:320401
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Focal-onset s... OMIM:608105
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Lower limb spasticity, Spastic gait, Limb tremor, Babinski sign, Progressiv... ORPHA:401820
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Ataxia, Clonus, Optic atrophy, Spasticity OMIM:616881
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, EEG abnormality, Myoclonus, Hand tremor, Generalized-onset seizure ORPHA:86814
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 54
Seizure, Delayed myelination, EEG abnormality OMIM:617391
Developmental And Epileptic Encephalopathy 91
Delayed myelination, Hypsarrhythmia, Seizure, Multifocal epileptiform discharges, Spasticity OMIM:617711
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Normal in... ORPHA:306
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3... OMIM:609446
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal oligodendroglia morphology, Weakness due to upper motor neuron dysfunction,... ORPHA:217260
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure,... OMIM:607876
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis, Status epilepticus, Tetraplegia, Clonus, Spasticity OMIM:614959
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Abnormal autonomic nervous system ph... ORPHA:101046
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment, Optic atrophy, Optic di... OMIM:165300
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Ataxia, Bilateral tonic-clonic seizure, EEG with polyspike wave co... OMIM:254800
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, EEG abno... OMIM:617836
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Atonic seizure, Eyelid myoclonus, Abnormal lower motor neuron morphology, Sei... ORPHA:2590
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, EEG with s... ORPHA:36387
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Hypsarrhythmia, EEG with burst suppression... OMIM:612164
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure OMIM:616341
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Choreoathetosis, Ataxia, Seizure, Hearing impairment, Cerebral hypomyelin... OMIM:612438
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:607682
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... ORPHA:79137
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Bi... OMIM:607208
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Demyelinating peripheral neuropathy, Seizure, Absent brainstem auditory responses, Sensorineural ... OMIM:617519
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Abnormality of the pinna, Ataxia, Seizure, Optic atrophy, Spasticity OMIM:300983
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Epilepsy, Progressive Myoclonic, 6
Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, Myoclonus, Fascicula... OMIM:159950
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure OMIM:141500
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticu... OMIM:615338
Pyridoxine-Dependent Epilepsy
Delayed CNS myelination, Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst supp... ORPHA:3006
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations, Degeneration of anterior horn cells OMIM:253400
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Spasticity OMIM:615528
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... ORPHA:289266
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia, Choreoat... OMIM:104290
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253550
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:610003
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic ... ORPHA:101071
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Chorea, Seizure, Spastic tetraplegia, Clonus OMIM:613811
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Dysmetria, Babinski sign, CNS demyelination OMIM:610245
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Hypsarrhythmia, EEG with focal epileptiform discharges, Focal-onset s... ORPHA:98820
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemiclonic seizure, Interic... ORPHA:33069
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Delayed myelination, Hypsarrhythmia, Seizure, Stereotypical hand wringing, Spasticity ORPHA:500545
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity OMIM:600116
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Choreoathetosis, Spastic paraparesis, ... OMIM:608804
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Multiple Mitochondrial Dysfunctions Syndrome 5
Seizure, Leukodystrophy, Delayed myelination, Spasticity OMIM:617613
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Landau-Kleffner Syndrome
Generalized clonic seizure, EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormalit... ORPHA:98818
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Chorea, Hyperkinetic movements, Myo... OMIM:619317
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Sensorineural hear... ORPHA:363710
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Delayed myelination, Gliosis, Hypertonia, Seizure, Babinski sign, Clonus, My... OMIM:614498
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Clumsiness, Sp... ORPHA:206443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Null Syndrome
Decreased nerve conduction velocity, Progressive spastic quadriplegia, Demyelinating peripheral n... ORPHA:280234
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Action tremor, Bilateral tonic-clonic seizure, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Seizure, Rigidity OMIM:143100
Developmental And Epileptic Encephalopathy 17
Generalized tonic seizure, Delayed myelination, Hypsarrhythmia, Chorea, Athetosis OMIM:615473
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Multifocal seizures, Delayed myelination, Ataxia, Status epilepticus, Involuntary movements, Spas... OMIM:615905
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Spasticity OMIM:615924
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fib... OMIM:604484
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Peripheral... DECIPHER:59
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism ORPHA:210571
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Stereotypy OMIM:613886
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Seizure, Hearing impairment, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve co... OMIM:601455
Developmental And Epileptic Encephalopathy 28
Delayed myelination, Seizure, Optic atrophy, Rigidity, Spasticity OMIM:616211
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:263516
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Abnormal autonomic ner... OMIM:300894
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paroxysmal dyskinesia, Abnormal pyramidal sign, Bilateral to... ORPHA:53583
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Seizure, Dysmetria, Rigidity, Generalized myoclonic seizure OMIM:618090
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Seizur... ORPHA:477673
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Abnormal myelination, Conductive hearing impairment ORPHA:85179
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Rigidity OMIM:615010
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Spastic dysarthria, Oculomotor apraxia, Demyelinating pe... ORPHA:313772
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status e... OMIM:271980
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Interictal EEG abnormality, Chorea, Poor fine motor coordination, Ataxia, Sei... ORPHA:79263
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Myo... OMIM:619028
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Delayed myelination, Chorea, Seizure, EEG abnormality, Babinski sign, Choreoathetosis, Spasticity OMIM:618451
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, EEG with... ORPHA:228360
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Demyelinating peripheral neuropathy, Progr... ORPHA:504476
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Bradykinesia, CNS demyelination, Rigidity, Spasticity OMIM:221820
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal i... ORPHA:330050
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Intentio... ORPHA:397946
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:105550
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Seizure, EEG abnormality, Dysmetria, Optic atrophy, Spasticity OMIM:617810
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Myoclon... OMIM:619301
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia, Seizure,... ORPHA:329284
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Bilateral tonic-clonic seizure, Status epilepticus, Seiz... ORPHA:529665
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Hearing impairment, Myoc... ORPHA:139485
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Decreased nerve conduction velocity, P... OMIM:609136
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Abnormal nerve conduction velocity, Tremor, Ataxia ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Bilateral tonic-clonic seizure, Lower limb spasticity, Babin... ORPHA:100988
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Dysmetria, Bab... OMIM:618093
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macrotia, Ataxia, Seizure, Spastic gait, Parkinsonism, EEG abnormality, Babinski sign, Ch... OMIM:300055
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Gabriele-De Vries Syndrome
Posteriorly rotated ears, Tremor, Delayed myelination, Abnormality of the pinna OMIM:617557
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Seizure, Optic atrophy, Rigidity, Spasticity ORPHA:33445
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Familial Infantile Myoclonic Epilepsy
Clumsiness, Interictal EEG abnormality, Focal-onset seizure, Blepharospasm, Bilateral tonic-cloni... ORPHA:352582
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Seizure, Abnormal myelination, Optic atrophy OMIM:618324
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Seizure, Optic atrophy OMIM:614947
Caribbean Parkinsonism
Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxia, Abnorma... ORPHA:97355
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Focal-onset seizure, Hypertonia, Ataxia, Bilateral tonic-c... OMIM:619092
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Tetrapares... ORPHA:206448
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Focal-onset seizure, ... OMIM:618917
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Spinocerebellar Ataxia 17
Apraxia, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Bradykinesia, Seizure, Parkinsonism, ... OMIM:607136
Crigler-Najjar Syndrome Type 1
Seizure, Hearing impairment, Tremor ORPHA:79234
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Paraparesis, Decr... OMIM:302800
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... OMIM:125250
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ataxia, Seizure, Hearing impairment, Myoclonus, Opt... ORPHA:391417
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Seizure, EEG abnormality, Athetosis OMIM:617106
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Delayed CNS myelination, Gait ataxia, Hypertonia, Hemiba... OMIM:618877
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Hypsarrhythmia, EEG with multifocal slow activity, Ataxia, S... ORPHA:442835
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Rigidity OMIM:261640
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Spasticity, Seizure, Hand apraxia, Tongue thru... ORPHA:3095
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Seizure precipitated by febrile infection, Interictal EEG abnormal... ORPHA:363558
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Gait ataxia, Delayed myelination, Microtia OMIM:618158
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, EEG abnormality OMIM:612126
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Demyelinating peripheral neuropathy, Spastic p... ORPHA:101077
Lissencephaly 8
Seizure, Abnormal myelination, Optic atrophy, Spasticity OMIM:617255
Neurodevelopmental Disorder With Spasticity And Poor Growth
Delayed myelination, Oculomotor apraxia, Seizure, Intention tremor, Clonus, Spasticity OMIM:618076
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Gliosis, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnorm... ORPHA:275872
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, A... OMIM:603472
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Focal-onset seizure, EEG with burst suppression, Ankle clonus, Bilateral tonic-cl... OMIM:301058
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Abnormal myelination, Optic atrophy ORPHA:352682
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Myopathy With Extrapyramidal Signs
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function OMIM:615673
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Atoni... ORPHA:382
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor, Generalized-onset seizure OMIM:254900
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Abnormal nerve conduction velocity, Ataxia, Hearing impairment, Optic atrophy ORPHA:99014
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, Ataxia, Interictal epilepti... ORPHA:1942
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
Clcn4-Related X-Linked Intellectual Disability Syndrome
Delayed myelination, Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic s... ORPHA:485350
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of extrapyramidal motor function, Head tremor, Abnormal pyramidal sign, Spastic tetra... ORPHA:280219
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Oculomotor apraxia, Ataxia, Seizure, Choreoathetosis, Spasticity OMIM:612716
Huntington Disease-Like 2
Chorea, Rigidity, Bradykinesia, Action tremor OMIM:606438
D-Glyceric Aciduria
Delayed myelination, Hypsarrhythmia, Seizure, Opisthotonus, Sensorineural hearing impairment, Spa... OMIM:220120
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Sensorineural hearing impairment, Abnorm... ORPHA:99027
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Cystathioninuria
Seizure, Tremor ORPHA:212
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Tremor, Gait ataxia, Ataxia OMIM:618387
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Spinocerebellar tract degeneration, Limb ataxia, Oculomotor ... OMIM:183090
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Seizure, Spasticity OMIM:617435
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Demyelinating sensory neuropathy, Head tremor, Limb ataxia, Decreased nerve conducti... ORPHA:101085
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Poor fine motor coordination, Slu... ORPHA:137898
Microcephaly 10, Primary, Autosomal Recessive
Delayed myelination, Gliosis, Hypertonia, CNS hypomyelination, Spasticity OMIM:615095
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Abnormal pyramidal sign, Ankle clonus, Absent brainstem auditory responses, Sens... ORPHA:52368
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, Seizure, Exaggerated startle response, CNS hypomyelination, Spasticity OMIM:618367
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, EEG with persistent abnormal rhythmic activity, Spastic hemipare... ORPHA:282166
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, CNS hypomyelination, Delayed myelination, Myoclonus OMIM:616158
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral tonic-clon... OMIM:614487
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with phot... ORPHA:168491
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Seizure, EEG abnormality, Stereotypy, Spasticity OMIM:618718
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Limb fasciculations, Abnormal peripheral action... ORPHA:90117
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Delayed myelination, Overfolded helix, Bilateral tonic-clonic seizure, Seizure, Multifocal epilep... ORPHA:488613
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Ataxia, Seizure, Peripheral demyelination, CNS demyelination OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Seizure, Dysmetria OMIM:614831
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Demyelinating peripheral neuropathy, Ataxia, Bilateral tonic-clonic seizure,... OMIM:614559
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, M... OMIM:218000
Multiple System Atrophy
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:102
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Hypertonia, Seizure, Spastic tetraplegia, Tetraplegia OMIM:608033
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Seizure, Lower limb spasticity, Parkinsonism, Focal EEG discharges with s... ORPHA:3077
Myoclonus, Intractable, Neonatal
Delayed myelination, Chorea, Seizure, Myoclonus, Athetosis OMIM:617235
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Seizure, Myoclonus, Slowed sl... ORPHA:391411
Sneddon Syndrome
Seizure, Tremor, Hemiplegia, Facial palsy OMIM:182410
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gliosis, Upper limb spasticity, Hyperkinetic movements, Bilateral tonic-clonic seizure, S... ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Babinski sign... OMIM:606159
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Macrotia, Poor coordination, Myoclonic absence seizure, Ataxia, R... ORPHA:544254
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Choreoathetosis, Hyperkinetic movements, Seizure, Limb hypertonia, Rigidity OMIM:233910
Developmental And Epileptic Encephalopathy 64
Delayed myelination, Macrotia, Chorea, Hemiparesis, Status epilepticus, Seizure, Limb hypertonia OMIM:618004
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Seizure, Absent brainstem auditory responses, Spastic tetr... ORPHA:3240
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign OMIM:616795
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Se... OMIM:618060
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Dyskinesia, Familial, With Facial Myokymia
Chorea, Limb hypertonia, Resting tremor OMIM:606703
Developmental And Epileptic Encephalopathy 3
Spasticity, Delayed myelination, Generalized myoclonic seizure OMIM:609304
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Sneddon Syndrome
Seizure, Chorea, Tremor, Hemiparesis ORPHA:820
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
3-Methylglutaconic Aciduria, Type Viii
Seizure, Hypertonia, Sensorineural hearing impairment, Tremor OMIM:617248
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Ataxia, Abnormal myelination, Lower limb spasticity, Cerebral hypomyelination, Titubation ORPHA:280210
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Stat... ORPHA:363400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Decreased number of... OMIM:208920
Dopa-Responsive Dystonia
Generalized tonic seizure, Tremor, Delayed myelination, Abnormality of extrapyramidal motor funct... ORPHA:255
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:98933
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Atrophy of the spinal cord ORPHA:99965
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Stereotypy,... ORPHA:98784
Jaberi-Elahi Syndrome
Tremor, Gait ataxia, Seizure, Protruding ear, Dysmetria, Optic atrophy, Choreoathetosis, Spasticity OMIM:617988
Mitochondrial Complex I Deficiency, Nuclear Type 19
Delayed myelination, Seizure, Myoclonus, Athetosis, Optic atrophy, Rigidity OMIM:618241
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Myoclonus, Dysmetria, Cerebellar glios... OMIM:616505
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Hand tremor ORPHA:98764
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia, Seizure, Myelopathy OMIM:617186
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, Tetraparesis, Ataxia, Sensorineural hearing impairment, Abnormal auditor... OMIM:619260
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Hemiparesis, Ataxia, Abnormal auton... OMIM:105210
Chronic Bilirubin Encephalopathy
Hypertonia, Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cereb... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cereb... ORPHA:529799
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Seizure, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Hypsarrhythmia,... ORPHA:501
Epilepsy, Early-Onset, With Or Without Developmental Delay
Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:618832
Hereditary Methemoglobinemia
Delayed myelination, Hypertonia, Seizure, Spastic tetraplegia, Cerebral hypomyelination, Athetosi... ORPHA:621
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Spastic dipl... ORPHA:206436
Trisomy X
Seizure, Tremor ORPHA:3375
Ddost-Cdg
Seizure, Oromotor apraxia, CNS hypomyelination, Tremor ORPHA:300536
Congenital Bile Acid Synthesis Defect Type 4
Seizure, Tremor ORPHA:79095
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Sensorineural hearing impairment, Dysmetria OMIM:614867
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Delayed myelination, Ataxia, Seizure, EEG abnormality, Myoclonus, Recurrent hand flapping... ORPHA:98794
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Seizure, Decreased nerve conduction velocity, Tremor, Bilateral sensorineural hearing impairment ORPHA:397744
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Abnormal autonomic nervous system physiology, Hearing impairment, Focal impa... OMIM:616683
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Gait ataxia, Focal-onset seizure, Chorea, Resting tremor, Bradykinesia, Seizure, Prog... ORPHA:225147
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, ... ORPHA:96
Hypermanganesemia With Dystonia 1
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Spontaneous Periodic Hypothermia
Seizure, Tremor, Ataxia ORPHA:29822
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Photosensitive myoclonic seizure, Tremor, Sensorineural hearing impairment ORPHA:1192
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Delayed myelination, Hypsarrhythmia, Focal-onset seizure, Cerebral palsy, Generalized-onset seizu... ORPHA:2148
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Hyperkinetic movements, Seizure, Spasticity OMIM:300957
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Choreoathetosis, Spastic d... OMIM:231670
Sialidosis Type 2
Seizure, Hearing impairment, Tremor, Ataxia ORPHA:87876
Cerebrotendinous Xanthomatosis
Spastic paraparesis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Paraparesis... ORPHA:909
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Sialidosis Type 1
Tremor, Slurred speech, Ataxia, Seizure, Sensorineural hearing impairment, EEG abnormality, Myocl... ORPHA:812
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural hearing impairmen... OMIM:304700
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Seizure, Parkinsonism OMIM:311510
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... ORPHA:64280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Diaphragmatic paralysis, Abnormality of peripheral somatosensory evoked potentials, Abnor... ORPHA:466768
Kohlschutter-Tonz Syndrome-Like
Hypsarrhythmia, Focal myoclonic seizure, Spasticity, Generalized clonic seizure, Upper limb spast... OMIM:619229
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormality of the dorsal column of the spinal cord, Abnormal pyramidal sign, Lower limb ... ORPHA:447753
Pyruvate Dehydrogenase Deficiency
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Choreoathetosis, Cerebral palsy, Spasticity ORPHA:765
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Babinski sign, Abnormal astrocyte morphology ORPHA:83629
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Abnormal autonomic nervous system physiology, Parkinsonism OMIM:618049
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal cranial nerve morphology, Abnormal vestibulo-ocular ref... ORPHA:247234
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Tremor ORPHA:276608
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Poor coordination, Abnormal autonomic nervous system physiology, Bilateral t... ORPHA:478029
Angelman Syndrome
Tremor, Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status ... ORPHA:72
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Parkinson Disease 1, Autosomal Dominant
Gliosis, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity OMIM:168601
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Seizure, Dysmetria, Truncal titubation OMIM:618056
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Decreased motor nerve conduction velocity, Abnorm... ORPHA:79139
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Seizure, Paraplegia ORPHA:79254
Amish Nemaline Myopathy
Tremor ORPHA:98902
Parkinson Disease, Late-Onset
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity OMIM:168600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Abnormality of the pinna OMIM:617333
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Gliosis, Poor fine motor coordination, Ankle clonus, Seizure,... ORPHA:845
Cockayne Syndrome A
Peripheral dysmyelination, Tremor, Abnormality of the pinna, Ataxia, Patchy demyelination of subc... OMIM:216400
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Parkinsonism, Decreased nerve conduction velocity, Fasciculations, Frequent falls, Facial... ORPHA:329478
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Ata... OMIM:614298
Tetanus
Tremor, Autonomic bladder dysfunction, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Cockayne Syndrome Type 1
Tremor, Macrotia, Ataxia, Seizure, Lower limb spasticity, Hearing impairment, Absent brainstem au... ORPHA:90321
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Myoclonic Epilepsy Of Lafora
Apraxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bila... OMIM:254780
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Abnormality of the pinna, Ataxia, Patchy demyelination of subc... OMIM:133540
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Seizure, Abnormal myelination ORPHA:34527
Arthrogryposis, Distal, Type 2A
Seizure, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Speech apraxia, Chorea, Hyperkinetic movements, Ataxia, Athetosis, Seizure, EEG abnormali... OMIM:615356
Progressive Supranuclear Palsy
Tremor, Gliosis, Blepharospasm, Bradykinesia, Rigidity ORPHA:683
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dysdiadochokinesis, Truncal ataxia, Spastic paraparesis, Hypertonia, Poor fine moto... ORPHA:309854
Niemann-Pick Disease Type C
Clumsiness, Speech apraxia, Upper motor neuron dysfunction, Abnormal CNS myelination, Generalized... ORPHA:646
Nemaline Myopathy 5
Tremor OMIM:605355
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Clumsiness, Hypoplastic helices, Poor motor coordination, ... ORPHA:2203
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Parkinsonism with favorable response to dopaminergic medicati... ORPHA:199351
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal pyramidal s... ORPHA:2131
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Tremor, Delayed myelination, Ataxia, Seizure, Limb hypertonia, Spastic tetra... ORPHA:572798
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Delayed myelination, Focal emotional seizure with laughing, Atonic seizure, Chorea, Hyperkinetic ... ORPHA:404454
Wolfram Syndrome 1
Tremor, Ataxia, Seizure, Sensorineural hearing impairment, Optic atrophy OMIM:222300
Serotonin Syndrome
Tremor, Hypertonia, Seizure, Myoclonus, Clonus, Abnormality of the autonomic nervous system, Rigi... ORPHA:43116
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Basal ganglia gliosis, Tremor, Delayed myelination, Abnormal pyramida... ORPHA:3008
Aceruloplasminemia
Tremor, Gait ataxia, Chorea, Limb ataxia, Blepharospasm, Ataxia, Torticollis, Parkinsonism, Invol... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Decreased motor nerve conduction velocity, Head tremor, Chorea, Progressive ... OMIM:606002
Trisomy 10P
Low voltage EEG, Macrotia, Poor motor coordination, EEG with focal spikes, EEG with burst suppres... ORPHA:171929
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Leukodystrophy, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyrami... OMIM:612199
Multiple System Atrophy 1, Susceptibility To
Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Bradykines... OMIM:146500
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Poor motor coordination, Chorea, Ataxia, Seizure, Athetosis, Rigidity, Infantile spasms ORPHA:25
Tyrosinemia Type 2
Seizure, Tremor, Ataxia ORPHA:28378
Joubert Syndrome With Renal Defect
Tremor, Low-set, posteriorly rotated ears, Oculomotor apraxia, Aganglionic megacolon, Ataxia, Sei... ORPHA:220497
Tick-Borne Encephalitis
Tremor, Incoordination, Abnormal cranial nerve morphology, Speech apraxia, Focal-onset seizure, H... ORPHA:297
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:168605
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Tremor, Truncal ataxia, Limb ataxia, Ataxia, Hearing impairment, Dysmetria OMIM:617675
Metachromatic Leukodystrophy
Tremor, Incoordination, Decreased nerve conduction velocity, Ataxia, Seizure, Hearing impairment,... ORPHA:512
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Parkinsonism, Cerebral palsy ORPHA:1578
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Alexander Disease
Tremor, Chorea, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Ataxia, Se... ORPHA:58
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Abnormality of extrapyramidal motor function... OMIM:234200
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia,... ORPHA:254892
Young-Onset Parkinson Disease
Tremor, Abnormal autonomic nervous system physiology, Bradykinesia, Rigidity, Spasticity ORPHA:2828
Mend Syndrome
Seizure, Limb hypertonia, Abnormal auditory evoked potentials ORPHA:401973
Monosomy 18Q
Macrotia, Poor coordination, Seizure, Abnormal myelination, Bilateral conductive hearing impairme... ORPHA:1600
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Macrotia, Conductive hearing impairment, Demyelinat... ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Ataxia, Seizure, Optic neuropathy, Optic atrophy OMIM:610505
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Tremor, Gliosis, Bradykinesia, Parkinsonism, Rigidity, Retrocollis OMIM:601104
Aicardi-Goutières Syndrome
Leukodystrophy, Tremor, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnormality of ext... ORPHA:51
Ataxia-Telangiectasia
Tremor, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:208900
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, 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 Zfp24

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 Zfp24.

No publications found that use IMPC mice or data for Zfp24.

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MGI Allele Allele Type Produced
Zfp24tm463144(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors
Zfp24tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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