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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:
ZF-12,  3526401F17Rik,  5033419P20Rik,  KOX17,  Zfp191

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 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
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal im... ORPHA:599373
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor func... OMIM:614561
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... OMIM:616187
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, CNS hypomyelination, Abnormal motor evoked potentials, Seizu... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co... OMIM:618587
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Hearing impairment, Progressive spastic paraplegia, Hand tremor, Lower limb s... ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Abnormality of peripheral nerve conduction, Babins... ORPHA:431329
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Pelizaeus-Merzbacher Disease
Spastic paraplegia, CNS hypomyelination, Seizure, Generalized dystonia, Sudanophilic leukodystrop... OMIM:312080
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Delayed CNS myelinati... OMIM:616421
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... OMIM:613722
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, Limb tremor, Spastic gait, ... ORPHA:401820
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Delayed CNS myelinat... OMIM:618396
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wi... OMIM:616366
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... ORPHA:308
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... OMIM:617106
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, M... OMIM:614018
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera... OMIM:615006
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Spasticity, Generalized tonic seizure, Delayed CNS myelination, Clonus, ... OMIM:614959
Epilepsy, Progressive Myoclonic, 11
Seizure, Giant somatosensory evoked potentials, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, EEG abnormality, Bilateral tonic-clonic se... OMIM:617836
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Progressive Multifocal Leukoencephalopathy
Seizure, Abnormal astrocyte morphology, Gait ataxia, Dysmetria, Hemiplegia/hemiparesis, Parkinson... ORPHA:217260
Infantile Convulsions And Choreoathetosis
Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... ORPHA:31709
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... OMIM:616139
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Seizure, Hypsarrhythmia, Delayed myelination, Status epilepticus, Spastic diplegia OMIM:617830
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Decreased number of peripheral myelinated nerv... OMIM:607734
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, EEG with... OMIM:612164
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, High-frequency sensorineural he... ORPHA:2590
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... OMIM:165300
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... OMIM:245570
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tremor, EEG with poly... OMIM:617665
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Myoclonus, Hemiparesis, Abnormality of extrapyramidal motor function, Clonic seizu... OMIM:615338
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,... OMIM:618141
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Tremor,... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... OMIM:615362
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor OMIM:158580
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Delayed CNS m... OMIM:300423
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxi... OMIM:617810
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Seizure, Focal-onset seizure,... ORPHA:330050
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... ORPHA:98818
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Abnormal CNS mye... ORPHA:206443
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... ORPHA:101071
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Seizure, Tremor, Delayed CNS myelination, Ataxia, Abnormal pinna morph... OMIM:300983
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity, Seizure, Leukodyst... OMIM:608804
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Seizure, Generalized non-mo... OMIM:620540
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, B... OMIM:620453
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Continuous spike and waves during slow sleep, Gen... OMIM:619913
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Seizure, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, O... OMIM:612438
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253550
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Seizure, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, ... OMIM:617519
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Folinic Acid-Responsive Seizures
Ataxia, Optic atrophy, Generalized myoclonic seizure, Seizure, EEG with generalized slow activity... ORPHA:79097
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Progressive extrapyramidal movement disorder, Generalized myoclonic seizure, Seizure, Cho... ORPHA:382
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Delayed CNS ... OMIM:617493
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Sensorineural hearing impairment, Truncal a... ORPHA:363710
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:477673
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Delayed CNS myelina... OMIM:619725
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Dys... ORPHA:53583
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Decreased nerve conduction ve... ORPHA:280234
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Low-set ears, Spasticity, Cerebral palsy, Seizure, Chorea, Babinski sign, Bilateral tonic-clonic ... OMIM:618451
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Leukodystr... OMIM:616881
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Huntington Disease
Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia OMIM:143100
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Spinocerebellar Ataxia 50
Froment sign, Hearing impairment, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor,... OMIM:620158
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of ... ORPHA:263516
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sig... OMIM:213600
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign, CNS demyelination OMIM:610245
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu... OMIM:618093
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Frequent falls, Generalized ... OMIM:159950
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Involuntary movements, Limb hypertonia, Ataxia, Dystonia, Multifocal seizures, Delaye... OMIM:615905
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Rigidity, Dystonia, Clumsiness, Parkinsonism, Bilateral... OMIM:619911
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myoclonus, Dy... ORPHA:79263
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal a... ORPHA:329284
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... ORPHA:313772
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Bilateral tonic-clonic seizure, Generali... OMIM:618090
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Seizure, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Tortico... ORPHA:71517
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hearing impairment, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Glut1 Deficiency Syndrome 2
Seizure, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Peripheral demyelination, Gait ataxia, Dysmet... ORPHA:397946
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Seizure, Ataxia OMIM:618951
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Caribbean Parkinsonism
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... ORPHA:97355
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, EEG abnormality, Bilateral tonic-c... OMIM:613970
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Phenylketonuria
Seizure, Tremor, Lower limb spasticity, EEG abnormality, Ataxia ORPHA:716
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Decreased number of peripheral myelinated nerve fibers, Tetraplegia,... OMIM:604484
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, CNS hypomyelination, Febrile seizure (within the age range of 3... OMIM:618012
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Neurodegeneration With Brain Iron Accumulation 7
Spinocerebellar tract degeneration, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Developmental And Epileptic Encephalopathy 3
Spasticity, Seizure, EEG with burst suppression, Delayed myelination, Generalized myoclonic seizu... OMIM:609304
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Myoclonic seizure, Tetraparesis, Tremor, Tonic seizure, Delayed CNS mye... OMIM:620546
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Spasticity, Abnor... OMIM:125250
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Seizure, Leukodystrophy, Postural tremor, Dysmetr... OMIM:607694
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Babi... ORPHA:504476
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism... OMIM:105550
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinson... OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Hearing impairment, Tremor, Ataxia ORPHA:101075
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG abnor... ORPHA:529665
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gliosis, Ataxia OMIM:213200
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Dysdiadochokinesis, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG with occipital ... ORPHA:254881
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Seizure, Abnormality of coordination, Myoclonus... ORPHA:442835
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Conductive hearing impairment, Seizure ORPHA:85179
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Tremor, Demyelinating peripheral ... ORPHA:101077
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment, Seizure ORPHA:79234
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized onset, Lower limb s... OMIM:619028
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, Tremor, Ataxia, Status e... OMIM:614307
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Tetraparesis, Progressive... ORPHA:206448
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia OMIM:278780
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
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
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Seizure, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Hand tremor, Incoordination, Dysmetria, Tremor, Decrea... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Hearing impairment, Tremor, Ataxia ORPHA:101078
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... ORPHA:352582
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Hearing impairment, Seizure, Myoclonus, Tremor, Rigidity, Ata... ORPHA:391417
Cystathioninuria
Tremor, Abnormal pinna morphology, Seizure ORPHA:212
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Seizure, Tremor, Rigidity, Ataxia, Decreased sensory n... OMIM:603472
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Gait ataxia, Tremor, Dysmetria, Ataxia OMIM:618387
Developmental And Epileptic Encephalopathy 46
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Abnormal sensory nerve conduction velocity, Tremor, Fasciculations ORPHA:276435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Optic atrophy, Spastic tetraparesis, Seizure OMIM:619470
4H Leukodystrophy
Optic atrophy, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progress... ORPHA:289494
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Myoclonic seizure, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Bilateral ton... OMIM:619092
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... ORPHA:1942
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Progressive spastic paraplegia, Babinski sign, Clonus, Abnormal s... ORPHA:139578
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Tremor, Paraparesis, Ataxia ORPHA:99014
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Urocanic Aciduria
Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing imp... ORPHA:99027
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination, Seizure ORPHA:352682
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine... OMIM:261640
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Hearing impairment, Peripheral demyelination, Peripheral hypomye... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Fas... ORPHA:101085
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Bradyki... OMIM:617435
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:240085
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Seizure, Tremor, Rigidity, Limb hypertonia, Dyst... ORPHA:70594
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Hearing impairment, Seizure, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hy... ORPHA:137898
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Seizure, Decreased nerve conduction velocity, Facial d... OMIM:218000
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnor... ORPHA:391411
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Sensorineural hearing impairment, Ataxia, Trunc... OMIM:610185
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Seizure, EEG with generalized slow activ... OMIM:300055
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Gait ataxia, Intention tremor, Dy... OMIM:614381
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Spinocerebellar Ataxia 2
Spasticity, Spinocerebellar tract degeneration, Fasciculations, Postural tremor, Limb ataxia, Myo... OMIM:183090
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Large fleshy ears, Tremor, Delayed CNS myelination, Hypertonia, Ataxia OMIM:619556
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Pa... OMIM:606693
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic nervou... OMIM:300894
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, Focal motor seizure ORPHA:542310
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Spina bifid... OMIM:618060
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Dystonia, Tremor, Rigidity OMIM:615010
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's... ORPHA:420492
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Athetosis, Seizure, Dysmetria, Tremor, Delayed CNS myelination, Limb hypertonia, H... OMIM:617710
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia,... OMIM:607483
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Seizure, Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetr... ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, CNS hypomyelination, Tetraparesis, Sensorineural hearing imp... OMIM:619260
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Seizure, Focal EEG discharges with secondary generalization, Tremor, Parkinsonism... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Riboflavin Transporter Deficiency
Seizure, Progressive hearing impairment, Abnormal cranial nerve morphology, Myoclonus, Tremor, Ab... ORPHA:97229
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Spasticity, Seizure, Tremor, EEG abnormality OMIM:618718
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Limb dystonia, Gait ataxia... ORPHA:363400
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait OMIM:616795
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... ORPHA:96
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Sneddon Syndrome
Tremor, Chorea, Seizure, Hemiparesis ORPHA:820
Early Infantile Epileptic Encephalopathy
Spasticity, Hypsarrhythmia, Choreoathetosis, Generalized non-motor (absence) seizure, Infantile s... ORPHA:1934
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Gliosis, Bilateral tonic-clonic seizure, Upper limb spas... ORPHA:457240
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Hearing im... ORPHA:206436
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Cerebellar gliosis,... OMIM:616505
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... OMIM:128100
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Decreased number of large p... OMIM:208920
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... OMIM:602481
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evo... OMIM:617523
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Lower limb spasticity, Gliosis, Ataxia, Abnormal myelination, Titubation ORPHA:280210
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Tremor, Fasciculations ORPHA:99965
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... OMIM:304700
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Cerebral palsy, Seizure, Sensorineural hearing impairment, H... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Cerebral palsy, Seizure, Sensorineural hearing impairment, H... ORPHA:529808
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Saccharopinuria
Tremor, Gait ataxia, Seizure, Spastic diplegia ORPHA:3124
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls OMIM:210000
Ddost-Cdg
Tremor, CNS hypomyelination, Oromotor apraxia, Seizure ORPHA:300536
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Seizure, Tremor, Babinski sign, Limb hypertonia, EEG abnormality, Dystonia ORPHA:35708
Myopathy With Extrapyramidal Signs
Optic atrophy, Seizure, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... OMIM:615673
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Tremor, Seizure ORPHA:397744
Waisman Syndrome
Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable r... OMIM:311510
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Lafora Disease
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... ORPHA:501
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Hearing impairment, Seizure, Paraplegia, Limb ataxia, Tremor, He... OMIM:105210
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Sensorineural hearing imp... OMIM:618527
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:614298
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... ORPHA:240071
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Substantia nigra gliosis, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Tay-Sachs Disease
Typical absence seizure, Decerebrate rigidity, Seizure, Laryngeal dystonia, Incoordination, Fasci... ORPHA:845
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exagger... OMIM:618056
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myoclonic seizure, Myelopathy, Seizure, Tetraparesis, Tremor, Rigidity, Tort... OMIM:617186
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Gliosis, Bradykinesia OMIM:168601
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, D... ORPHA:199351
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Japanese Encephalitis
Opisthotonus, Paucity of anterior horn motor neurons, Focal motor seizure, Choreoathetosis, Cogwh... ORPHA:79139
Autosomal Dominant Spastic Paraplegia Type 9A
Seizure, Tremor, Babinski sign, Abnormal pyramidal sign, Abnormality of the dorsal column of the ... ORPHA:447753
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia OMIM:616586
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue tremor, Mixed demyelinating and axonal polyneuropathy, Seizure, Fasciculations, Hearing im... ORPHA:466768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, EEG abnorma... OMIM:615356
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia OMIM:615530
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Seizure, Myoclonus, Tremor, EEG abnormality, Ataxia, Delaye... ORPHA:98794
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Asparagine Synthetase Deficiency
Seizure, Macrotia, EEG with burst suppression, Tremor, Simple ear, Clonus, Limb hypertonia, Hyper... OMIM:615574
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Seizure, Abnormality of peripheral nerve conduction, Tremor, L... ORPHA:90321
Niemann-Pick Disease Type C
Hearing impairment, Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyram... ORPHA:646
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Seizure, Peripheral dysmyelination, Decreased... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Seizure, Peripheral dysmyelination, Decreased... OMIM:216400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Myoclonic seizure, Hearing impairment, Fasciculations, Tremor, Limb hypertonia, Exaggerated start... OMIM:620327
Alternating Hemiplegia Of Childhood
Seizure, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc... ORPHA:2131
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Atax... ORPHA:25
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Abnormal myelination, Seizure OMIM:617333
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... OMIM:606002
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
EEG abnormality, Optic atrophy, Generalized non-motor (absence) seizure, Chorea, Infantile spasms... ORPHA:404454
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Astrocytosis, Action tremor, Rigidity, Dystonia, Hypertonia, Truncal ataxia,... ORPHA:309854
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Seizure OMIM:193700
Mogs-Cdg
Optic atrophy, Seizure, Sensorineural hearing impairment, Absent brainstem auditory responses, Dy... ORPHA:79330
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa... OMIM:612716
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Metachromatic Leukodystrophy
Decerebrate rigidity, Seizure, Hearing impairment, Incoordination, Decreased nerve conduction vel... ORPHA:512
Trisomy 10P
Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, Seizure, Focal clonic... ORPHA:171929
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnormal autonomic nervou... OMIM:146500
Supranuclear Palsy, Progressive, 1
Astrocytosis, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Parkinsonism, Gliosis... OMIM:601104
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyra... OMIM:234200
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia, Seizure ORPHA:401973
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Seizure, Dystonia, Limb hypertonia, Gliosis, Bilateral tonic-clonic seizure, Abnormal... OMIM:620371
Monosomy 18Q
Bilateral conductive hearing impairment, Seizure, Sensorineural hearing impairment, Poor coordina... ORPHA:1600
Cockayne Syndrome Type 3
Conductive hearing impairment, Seizure, Abnormality of peripheral nerve conduction, Demyelinating... ORPHA:90324
Degcags Syndrome
Low-set ears, Hearing impairment, Unilateral conductive hearing impairment, Sensorineural hearing... OMIM:619488
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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfp24tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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