Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
synaptotagmin II
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Syt2 mutations

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

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

The table below shows human diseases associated to Syt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Fatigable weakness, Ataxia, Waddling gait ORPHA:98914
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal sensory impairment, Waddling gait OMIM:616040
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Tongue fasciculations, Failure to thrive OMIM:619461

The table below shows human diseases predicted to be associated to Syt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Ataxia OMIM:616330
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Frequent falls, Fatigable weakness OMIM:616227
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... ORPHA:363710
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:615268
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Difficulty walking, Dysmetria, Clumsiness, Babinski sign, Progressi... ORPHA:284332
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia OMIM:611694
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis OMIM:616291
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Chorea, Benign Familial
Chorea OMIM:215450
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Tremor, Hemiparesis OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor OMIM:615386
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Epilepsy, Progressive Myoclonic, 11
Ataxia, Myoclonus, Intention tremor, Rigidity OMIM:618876
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Truncal ataxia, ... ORPHA:453521
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Congenital Myasthenic Syndromes With Glycosylation Defect
Difficulty walking, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness,... ORPHA:353327
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Dystonia 22, Juvenile-Onset
Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor... OMIM:620453
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi... OMIM:608984
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti... OMIM:610357
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi... OMIM:607565
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... ORPHA:352641
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ... OMIM:616127
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem gait, Ap... OMIM:300423
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia ORPHA:101112
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spinocerebellar Ataxia 4
Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis OMIM:256731
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal ataxia, Slurred speec... ORPHA:352403
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:616719
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance OMIM:618090
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p... OMIM:617633
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Myoclonic Epilepsy, Familial Infantile
Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia OMIM:605021
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... ORPHA:99750
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials OMIM:608930
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Ataxia OMIM:620270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll... OMIM:619862
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Gait disturbanc... ORPHA:98759
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... ORPHA:401768
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment OMIM:180800
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... ORPHA:98772
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Spinocerebellar Ataxia 34
Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ... OMIM:133190
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Spinocerebellar Ataxia 6
Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v... OMIM:183086
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Oculomot... OMIM:208920
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a... OMIM:604391
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory impairment, Dysmetr... OMIM:302800
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Difficulty walking, Impaired vibration sensation in the lower limb... ORPHA:137898
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Ataxia OMIM:300983
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr... ORPHA:93952
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis, Fatigable weakness OMIM:614198
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia OMIM:614229
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Phenylketonuria
Lower limb spasticity, Tremor, Ataxia ORPHA:716
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Fatigable weakness ORPHA:2593
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Neuroectodermal Melanolysosomal Disease
Spasticity, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram... OMIM:607454
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet... OMIM:300623
Postsynaptic Congenital Myasthenic Syndromes
Decreased miniature endplate potentials, Fatigable weakness of respiratory muscles, Fatigable wea... ORPHA:98913
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Spastic tetraparesis OMIM:619470
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... ORPHA:90117
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia OMIM:612016
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia OMIM:607694
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... ORPHA:206443
4H Leukodystrophy
Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Un... OMIM:617435
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia ORPHA:70594
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls OMIM:159950
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Cystathioninuria
Tremor ORPHA:212
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic... OMIM:128100
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinski sign, Steppage gai... OMIM:616505
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Gait imbalance, Postural tremor, Babinski sign, Abnorma... ORPHA:64753
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins... OMIM:300055
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia OMIM:619092
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response... ORPHA:98915
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity ORPHA:3077
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb dystonia,... ORPHA:363400
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... OMIM:312080
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss, Fatigable weakness ORPHA:99868
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... ORPHA:442835
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... ORPHA:206594
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... ORPHA:52368
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... ORPHA:765
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal muscles ORPHA:1320
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia OMIM:616640
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Tremor OMIM:304700
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit... ORPHA:48818
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168605
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spastic tetraplegia OMIM:617710
Amish Nemaline Myopathy
Tremor ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Tay-Sachs Disease
Fasciculations, Incoordination, Inability to walk, Laryngeal dystonia, Myoclonus, Dysmetria, Trem... ORPHA:845
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... ORPHA:447753
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic movements, At... OMIM:615356
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia ORPHA:683
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis ORPHA:25
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia ORPHA:2828
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... OMIM:601104
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P... ORPHA:512
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slu... OMIM:208900
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Myoclonus, Limb dystonia, Tremor, Axial dystonia, Progressive ... ORPHA:646
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Fatigable weakness, Ataxia, Waddling gait ORPHA:98914
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal sensory impairment, Waddling gait OMIM:616040
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Tongue fasciculations, Failure to thrive OMIM:619461

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 Syt2

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 Syt2.

No publications found that use IMPC mice or data for Syt2.

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MGI Allele Allele Type Produced
Syt2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Syt2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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