Gene Summary

Name:
ect2 oncogene
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Ect2tm1b(EUCOMM)Wtsi HET   Early adult 5.11×10-05
tremors Ect2tm1b(EUCOMM)Wtsi HET Early adult 9.47×10-06
decreased grip strength Ect2tm1b(EUCOMM)Wtsi HET   Early adult 8.63×10-06
preweaning lethality, complete penetrance Ect2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ect2 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 Ect2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, Myoclonus, Tremor OMIM:615127
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... OMIM:613608
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Glutathionuria
Tremor OMIM:231950
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Hearing impairment, Tremor ORPHA:217012
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Abnormality of extrapyramidal motor function, Optic atrophy, Hearing impairmen... OMIM:165300
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, EEG with polyspike wave complexes, Limb ataxia, Morning myoclonic jerks... ORPHA:308
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus, Tremor OMIM:608105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Prog... ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Resting tremor, Bradykinesia, Tremor OMIM:616710
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Monomelic Amyotrophy
Fasciculations, Abnormality of peripheral nerve conduction, Tremor ORPHA:65684
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Tremor, Ataxia, D... ORPHA:1368
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Hypsarrhythmia OMIM:619561
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Sensorineural hearing impairment, Tremor, Poor coordination, Spasticity, Clumsiness, B... OMIM:270500
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Myoclonus, Hand tremor ORPHA:86814
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Lower limb spas... ORPHA:320401
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Glut1 Deficiency Syndrome 2
EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ... ORPHA:363710
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor ORPHA:210571
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Ankle clonus, Abnormal pyramidal sign, Dystonia, ... ORPHA:52368
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Hearing impairment, Tremor ORPHA:101075
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Optic atrophy, Tremor OMIM:210000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Facial palsy, Absent brainste... OMIM:617519
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Abnormal autonomic nervous system phys... OMIM:300894
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Gait ataxia, EEG with polyspike wave complexes, Chorea, Truncal at... OMIM:618587
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Optic atrophy, Hearing impairment, Tremor OMIM:612438
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Action tremor, Parkinsonism, Autonomic bladder dysfunction, Ap... ORPHA:97355
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Ataxia, Tremor OMIM:617831
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Optic atrophy, Hearing impairment, Tremor ORPHA:99014
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... ORPHA:206443
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Abnormal autonomic nervous system phys... ORPHA:329284
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Hearing impairment, ... ORPHA:139485
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Action tremor, Clonus, Tremor, Dysmetria, Abnormal autonomic nervous sys... ORPHA:99027
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Abnormal sensory nerve conduction velocity, Tremor ORPHA:276435
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Tongue fasciculatio... OMIM:601596
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Interictal EEG abnormality, EEG with generalized s... ORPHA:79263
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:102
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Low-set ears, Tremor OMIM:618951
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Optic atrophy, Tremor OMIM:614947
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea OMIM:606438
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous system, Freq... ORPHA:206594
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... ORPHA:280219
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Abnormal autonomic nervous system phys... OMIM:618049
Adult Krabbe Disease
Tetraparesis, Frequent falls, EEG abnormality, Hoffmann sign, Ataxia, Upper motor neuron dysfunct... ORPHA:206448
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, EEG abnormality, Apraxia, Gait ataxia, Spasticity, Optic atrophy, Tremor OMIM:617810
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Facial palsy, Myoclonus, Tremor OMIM:159950
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Optic atrophy, Hypertonia ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Developmental And Epileptic Encephalopathy 42
EEG abnormality, Athetosis, Ataxia, Tremor, Hypertonia OMIM:617106
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Gabriele-De Vries Syndrome
Dystonia, Posteriorly rotated ears, Tremor OMIM:617557
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Hsd10 Disease
Choreoathetosis, Hearing impairment, Spastic paraparesis, Ataxia, Rigidity, Optic atrophy, Myoclo... ORPHA:391417
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, Limb fa... ORPHA:90117
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Spasticity, Optic atrophy, Tremor OMIM:300983
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary... ORPHA:3095
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Spastic paraplegia, Ataxia, Absent ... ORPHA:1215
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, High-frequency sensorineural hearing impairment, Sensorineural ... ORPHA:2590
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:98933
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor ORPHA:79234
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement diso... ORPHA:401768
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia ORPHA:210128
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Poor gross motor coordination, EEG with spike-wave... ORPHA:228360
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoa... OMIM:300055
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Dysmetria, Tremor OMIM:618090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Ataxia, Tremor OMIM:618387
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor ORPHA:306669
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Dysmetria, Frequent falls, Hand tremor, Sensorineural hearing impairment, Parapar... OMIM:302800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Optic atrophy, Tremor OMIM:619470
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:227510
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Spastic paraparesis, Tremor ORPHA:101077
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Spastic dysarthria, Brad... ORPHA:282166
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Optic neuropathy, Involuntary movements, Blepharospasm... ORPHA:101
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Dystonia, Resting tremor, Involuntary movements, Bradykinesia, Slowed sl... ORPHA:391411
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Dystonia, Opisthotonus, Frequent falls, Cra... OMIM:607483
Mohr-Tranebjaerg Syndrome
Dystonia, Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hea... OMIM:304700
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, EEG abnormality, Gait ataxia, Spasticity, Oculomotor apraxia, Optic atrophy, Tremor ORPHA:529665
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Spastic tetraplegia, Head titubation ORPHA:3240
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Low-set ears, Ataxia, Gait ataxia, Overfolded helix, Large fleshy ears, Myoclonus, Tr... OMIM:619092
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Dystonia, Optic atrophy, Tremor ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Ataxia, Bilateral sensorineural hearing impairment, Optic atrophy, Tremor OMIM:619422
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Tremor OMIM:128100
Peroxisome Biogenesis Disorder 5B
Dysmetria, Sensorineural hearing impairment, Ataxia, Oculomotor apraxia, Tremor OMIM:614867
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Hypermanganesemia With Dystonia 2
Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandibular dystonia, Bradykinesia,... OMIM:617013
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Abnormal autonomic nervous sys... ORPHA:97229
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Low-set ears, Gait ataxia, Spasticity, Protruding ear, Opti... OMIM:617988
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Poor coordination,... ORPHA:255
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Fasciculation... ORPHA:101085
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Spastic paraplegia, Hypsarrhythmia, EEG with burst suppression, Tremor OMIM:612164
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Lower limb spasticity, Focal EEG discharges with secondary generali... ORPHA:3077
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Hypertonia, Dystonia, Tremor OMIM:617248
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Spasticity, Low-set ears, Tremor OMIM:618718
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... ORPHA:352649
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Progressive spasticity... ORPHA:137898
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Abnormal autonomic nervous system physiolo... OMIM:616840
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Titubation OMIM:619405
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Dysdiadochokinesis, Hemiplegia/... ORPHA:96
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Spast... OMIM:312080
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Low-set ears, Tremor ORPHA:477673
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Bradykinesia, EEG with spike-wave complexes, Ataxia, Poor fine motor coordination... ORPHA:36387
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Limb ataxia, ... OMIM:208920
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Poor fine motor coordination... OMIM:613280
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor OMIM:616586
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy, Hypertonia ORPHA:529799
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Hypsarrhythmia, EEG with multifocal slow activity... ORPHA:442835
Parkinson Disease, Late-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Abnormal autonomic nervous system physiolog... OMIM:168600
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Perry Syndrome
Abnormality of extrapyramidal motor function, Parkinsonism, Tremor ORPHA:178509
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor OMIM:619473
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Ataxia, Limb dystonia, Gait ataxia, Poor motor coordinatio... ORPHA:363400
Spinocerebellar Ataxia Type 27
Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Tremor ORPHA:98764
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Hearing impairment, Tremor OMIM:278760
Infantile Krabbe Disease
Opisthotonus, Spastic diplegia, Lower limb spasticity, Decreased nerve conduction velocity, Prolo... ORPHA:206436
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Intention tremor, Abnormal vesti... ORPHA:247234
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Spasticity, ... OMIM:614381
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Opti... OMIM:619260
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Poor coordination, Ataxia, Recurrent hand flapping, Macrotia, Tremor ORPHA:544254
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... OMIM:607060
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Babinski sign, Optic atrophy, Myocl... OMIM:616505
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Ataxia, Spasticity, Hemiparesis, Paraplegia, Orthos... OMIM:105210
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Macrotia,... OMIM:218000
Parkinson Disease 20, Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Eyelid apraxia, Tremor OMIM:615530
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Ataxia, Oculomotor apraxia, Tremor OMIM:618060
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Abnormal pyramidal sign, Interictal epileptiform activity, EE... ORPHA:1942
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Blepharospasm, Bradykinesia, Slo... ORPHA:240071
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Abnormal pyramidal sign, Parkinsonism, Dystonia, ... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic tetraplegia, Sensorineural hearing impairment, Spastic paraparesis, Aganglionic megacolon... OMIM:609136
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Ataxia, Clonus, Chorea, Clumsiness, Abnormality of ext... OMIM:615673
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spasticity, Tremor ORPHA:765
Saccharopinuria
Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Tremor ORPHA:397744
Tetanus
Hypertonia, Opisthotonus, Autonomic bladder dysfunction, Spasticity of pharyngeal muscles, Abnorm... ORPHA:3299
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Fasciculations, Decreased nerve conduction velocity, Facial diplegi... ORPHA:329478
Sialidosis Type 1
EEG abnormality, Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, M... ORPHA:812
Neurodegeneration With Brain Iron Accumulation 4
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Spasticity, Babinski sign, Abnormality of... OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Dystonia, Head tremor, Oculomotor apraxia, Gait ataxia, Decreased motor ... OMIM:606002
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Amish Nemaline Myopathy
Tremor ORPHA:98902
Cockayne Syndrome Type 1
Hearing impairment, Lower limb spasticity, Ataxia, Macrotia, Absent brainstem auditory responses,... ORPHA:90321
Adult-Onset Dystonia-Parkinsonism
Dystonia, Focal dystonia, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement... ORPHA:199351
Aceruloplasminemia
Parkinsonism, Dystonia, Blepharospasm, Involuntary movements, Craniofacial dystonia, Ataxia, Gait... ORPHA:48818
Sneddon Syndrome
Facial palsy, Hemiplegia, Tremor OMIM:182410
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Tremor, Gait ataxia, Truncal titubation, Hypertonia OMIM:618056
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Parkinsonism, Bradykinesia, Abnormal autonomic nervous system physiology... OMIM:146500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG abnormality, Ataxia, Recurrent hand flapping, Tongue thrusting, EEG with abnormally slow freq... ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, At... OMIM:234200
Non-Functioning Paraganglioma
Pulsatile tinnitus, Conductive hearing impairment, Vocal cord paralysis, Cranial nerve compressio... ORPHA:94080
Tay-Sachs Disease
Incoordination, Ankle clonus, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fascicul... ORPHA:845
Classic Phenylketonuria
Paraplegia, Hypertonia, Hemiplegia, Tremor ORPHA:79254
Japanese Encephalitis
Hypertonia, EEG abnormality, Interictal epileptiform activity, Dystonia, Opisthotonus, Paralysis,... ORPHA:79139
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Poor motor coordin... ORPHA:171929
Perry Syndrome
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Polyminimyoclonus, Tremor OMIM:619574
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Recurrent hand flapping, Hemidystonia, Posteriorly rotated ears, Torticollis, Tremor OMIM:619680
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Rigidity, Tremor ORPHA:683
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Parkinsonism, Oculogyric crisis, Cerebral palsy, Tremor ORPHA:1578
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia, Optic atrophy ORPHA:79330
Young-Onset Parkinson Disease
Dystonia, Bradykinesia, Abnormal autonomic nervous system physiology, Rigidity, Spasticity, Tremor ORPHA:2828
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Ataxia, Truncal ataxia, Dysdiadochokinesis, Limb ataxia, Hearing impairment, Tremor OMIM:617675
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Sensorineural hearing impairment, Lowe... ORPHA:447753
Serotonin Syndrome
Hypertonia, Abnormality of the autonomic nervous system, Rigidity, Clonus, Myoclonus, Tremor ORPHA:43116
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Athetosis, Ataxia, Limb dystonia, Poor motor coordination, Rigidity, Chorea, Tremor ORPHA:25
Cockayne Syndrome B
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Abnormal auditory ... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Abnormal auditory ... OMIM:216400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
EEG abnormality, Dystonia, Athetosis, Ataxia, Speech apraxia, Chorea, Hyperkinetic movements, Tremor OMIM:615356
Wolfram Syndrome 1
Sensorineural hearing impairment, Optic atrophy, Ataxia, Tremor OMIM:222300
Metachromatic Leukodystrophy
Incoordination, Frequent falls, Dystonia, Ataxia, Decreased nerve conduction velocity, Progressiv... ORPHA:512
Hyperlysinemia
Spastic tetraparesis, Dysmetria, Opisthotonus, Hypoplasia of the antihelix, Spastic diplegia, EEG... ORPHA:2203
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Hypertonia, Abnormal motor nerve condu... ORPHA:466768
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Episodic... ORPHA:2131
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Tremor ORPHA:713
Charcot-Marie-Tooth Disease Type 4B2
Sensorineural hearing impairment, Vocal cord paralysis, Decreased distal sensory nerve action pot... ORPHA:99956
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Choreoathetosis, Uni- and bilateral multifocal epileptiform discharges... ORPHA:1934
Tick-Borne Encephalitis
Tinnitus, Incoordination, Abnormality of the vestibular nerve, Abnormal cranial nerve morphology,... ORPHA:297
Alexander Disease
Abnormal pyramidal sign, EEG abnormality, Abnormal autonomic nervous system physiology, Ataxia, T... ORPHA:58
Niemann-Pick Disease Type C
Abnormal pyramidal sign, Frequent falls, Dystonia, Axial dystonia, Intention tremor, Cataplexy, L... ORPHA:646
Mend Syndrome
Abnormal auditory evoked potentials, Limb hypertonia, Low-set ears ORPHA:401973
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Abnormal pyramidal sign, Dystonia, Ataxia, Hemiplegia, Spasticity, Abnormality of extrapyramidal ... OMIM:612199
Supranuclear Palsy, Progressive, 1
Parkinsonism, Axial dystonia, Bradykinesia, Limb dystonia, Rigidity, Eyelid apraxia, Retrocollis,... OMIM:601104
Tyrosinemia Type 2
Ataxia, Tremor ORPHA:28378

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 Ect2

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 Ect2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Alveolar epithelial cell fate is maintained in a spatially restricted manner to promote lung regeneration after acute injury. Cell reports (May 2021) Ect2tm1c(EUCOMM)Wtsi PMC8220578
Direct Comparison of Mononucleated and Binucleated Cardiomyocytes Reveals Molecular Mechanisms Underlying Distinct Proliferative Competencies. Cell reports (March 2020) Ect2tm1a(EUCOMM)Wtsi PMC7194103

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MGI Allele Allele Type Produced
Ect2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ect2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ect2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ect2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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