Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serine/arginine repetitive matrix 3
Synonyms:
Srrm2l,  2900083I11Rik,  SRm300-like

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 Srrm3 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 Srrm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... OMIM:610245
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:615957
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:117210
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Ataxia, Cerebellar vermis hypoplasia OMIM:618876
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... OMIM:213200
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Gait disturbance, Tremor, Diffuse cerebral atrophy, Spastic paraplegia OMIM:300660
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... ORPHA:79262
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... OMIM:600143
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... ORPHA:401820
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetr... OMIM:615924
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Cerebellar atrophy, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus OMIM:125370
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... OMIM:610185
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Glutathionuria
Tremor OMIM:231950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations, Cerebral atr... OMIM:618170
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Knee clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Neuroectodermal Melanolysosomal Disease
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypopl... ORPHA:33445
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism OMIM:600116
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... ORPHA:397946
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... ORPHA:98759
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Neurodegeneration, Abnormality of extrapyramidal ... OMIM:617672
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Falls, Resting tremor, Shor... ORPHA:306692
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Frequent falls, Torticollis, Choreoathetosis, Dilated f... OMIM:619054
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Oculomo... ORPHA:1170
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Cerebellar Purkinje layer atro... ORPHA:98756
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Inc... OMIM:616204
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... ORPHA:98773
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, ... ORPHA:208513
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Oculomotor apraxia, Ataxia OMIM:616267
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebral atrophy OMIM:612126
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... OMIM:617435
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cerebellar hypopla... OMIM:617810
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... OMIM:612953
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Axon... OMIM:302800
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... OMIM:261640
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Spas... OMIM:614409
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Loss of ... ORPHA:276198
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... OMIM:608768
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Aprax... OMIM:137440
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Cerebellar atrophy, Choreoathetosis, Axonal degeneration, Tremor, Oculomotor apraxia, A... OMIM:208920
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Dilated fourth ventricle, Myoclonus, Bradykinesia, Fascicul... OMIM:183090
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... OMIM:615491
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... OMIM:612020
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity, Cerebral cortical atrophy OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism, Spa... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Neurodegeneration, Br... OMIM:606159
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Hydrocephalus, Broad-based gait OMIM:619470
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity OMIM:612716
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem g... OMIM:300623
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Tremor, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Attentio... OMIM:619556
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Cerebellar hypoplasia, Gai... ORPHA:529665
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Brain atrophy, Parkin... ORPHA:306669
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Gait ataxia, A... OMIM:215470
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking, Deg... OMIM:159950
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Frontotemporal cerebral a... ORPHA:391417
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Ce... OMIM:618060
Jaberi-Elahi Syndrome
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to... OMIM:617988
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Cogw... OMIM:607454
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Axonal degeneration, Fasciculations, Tetraplegia, Distal sensory i... OMIM:604484
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... OMIM:616505
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
4H Leukodystrophy
Dystonia, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:289494
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Diffuse cerebral atrophy, Oculogyric cri... ORPHA:330050
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight, Brain atrophy OMIM:278760
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atrophy, Impaired tactile sensation, Gai... OMIM:619092
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Gillespie Syndrome
Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia OMIM:206700
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Spinocerebellar Ataxia Type 10
Babinski sign, Cerebellar atrophy, Kinetic tremor, Gait imbalance, Dysmetria, Lower limb spastici... ORPHA:98761
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Positive Romberg sign, Vestibular areflexia, Ataxia, Limb ataxia, Gait ataxia OMIM:614575
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Tremor, Distal sensory impairment, Hypertonia, Spasticity OMIM:609260
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dy... ORPHA:420492
Spinocerebellar Ataxia Type 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Atrophy/Degeneration a... ORPHA:458803
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Caudate atrophy, Neuronal loss in central nervous system, Myoclonus, Tre... ORPHA:363400
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Spinocerebellar Ataxia Type 8
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... ORPHA:98760
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Somatic sensory dysfun... ORPHA:90117
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Tremor, Abnormali... ORPHA:442835
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Central nervous system degeneration, Chorea, Spastic hemiparesis, Myoc... ORPHA:282166
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor, Abnormal cerebellum morphology OMIM:190310
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... ORPHA:247234
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, Bradykinesia, Sp... OMIM:300055
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Ataxia, Re... ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Pontocerebellar atrophy, Cerebellar atrophy, Impaired distal t... OMIM:606002
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar hypoplasia, Cerebral atrophy OMIM:619422
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal p... ORPHA:96
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Oculomotor apraxia, At... ORPHA:64753
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Atrophy/Degeneration affecting the brainstem, Atrophy of the spinal cord... ORPHA:99027
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Shuffling gait, Tremor, Abnormality of coordination, Hypertonia, Dysd... ORPHA:352649
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Somatic sensory dysfunction OMIM:603472
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ... OMIM:300957
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Neurodegeneration, Oromandibular d... OMIM:614298
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... OMIM:618056
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-base... ORPHA:3077
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia OMIM:618049
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Choreoathetosis, Failure to thrive, Tremor, Ataxia, Progressive spasti... OMIM:312080
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, Spasticity OMIM:618718
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Neuroferritinopathy
Involuntary movements, Babinski sign, Dystonia, Arm dystonia, Leg dystonia, Caudate atrophy, Writ... ORPHA:157846
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Stereotypy, Tremor, Hyperkinetic m... ORPHA:457240
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Frequent falls, Choreoathetosis, Chorea, Cerebellar dysplasia, Abno... OMIM:615673
Subacute Inflammatory Demyelinating Polyneuropathy
Gait disturbance, Frequent falls, Choreoathetosis, Steppage gait, Positive Romberg sign, Tremor, ... ORPHA:206594
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Riboflavin Transporter Deficiency
Cachexia, Myoclonus, Tremor, Ataxia, Cerebral cortical atrophy ORPHA:97229
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Chorea, Resting tremor, Limb hypertonia OMIM:606703
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Cerebral cortical atr... ORPHA:1192
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Spastic dysarthria, Impaired vibration sensation in the lower limbs, Pro... ORPHA:95433
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... ORPHA:544254
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment ORPHA:3124
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Spastic gait, Abnormality of pain sensation, Spastic dysarthria, Falls, Tremor, Im... ORPHA:447753
Mohr-Tranebjaerg Syndrome
Babinski sign, Dystonia, Caudate atrophy, Global brain atrophy, Oromandibular dystonia, Shuffling... ORPHA:52368
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Tremor, Ataxia, Brain atrophy, Tetraparesis OMIM:617186
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Lethargy, Failure to thrive OMIM:201100
Aceruloplasminemia
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Tremor, Ataxia, Craniofacial dyst... ORPHA:48818
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Impaired tandem gait, Tr... OMIM:619574
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... ORPHA:765
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... OMIM:616586
Ataxia-Telangiectasia
Gait disturbance, Failure to thrive, Tremor, Ataxia, Spasticity ORPHA:100
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia, Cerebral atrophy OMIM:617248
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Neurodegeneration, Bradykinesia, Tremor, Ataxia, Olivopontocerebellar at... OMIM:146500
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Ataxia, Pontocerebellar atrophy, Failure to thrive OMIM:608799
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Babinski sign, Gait disturbance, Tremor, Tip-toe gait, Cerebral atrophy, Spastic paraplegia ORPHA:83629
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Cerebellar vermis atrophy, Hyperactivity, Abdominal obesity, Gait ataxia OMIM:300354
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Cerebral degeneration, Dystonia, Rigidity, Choreoathetosis, Eyeli... OMIM:234200
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Babinski sign, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neuronal loss in... ORPHA:314404
Oculopharyngodistal Myopathy 3
Tremor, Ataxia OMIM:619473
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Parkinson Disease, Late-Onset
Dystonia, Rigidity, Neuronal loss in central nervous system, Bradykinesia, Tremor, Resting tremor... OMIM:168600
Progressive Supranuclear Palsy
Dystonia, Rigidity, Neuronal loss in central nervous system, Falls, Bradykinesia, Tremor, Unstead... ORPHA:683
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Cerebellar atrophy, Dystonia, Frequent fall... ORPHA:845
Cystathioninuria
Tremor ORPHA:212
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Lethargy ORPHA:276608
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Tremor, Ataxia, Distal sensory impairment, Dysdiadochokinesis, Inability to walk, Trun... OMIM:617675
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Athetosis, Dystonia, Cerebellar atrophy, Chorea, Speech apraxia, Tremor, Ataxia, Inability to wal... OMIM:615356
Parkinson Disease 23, Autosomal Recessive Early-Onset
Rigidity, Abnormal pyramidal sign, Resting tremor, Spasticity, Akinesia, Parkinsonism, Cerebral c... OMIM:616840
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Cerebellar atrophy, Limb hypertonia, Dysmetria, Dilated fourth ventricle, Spastic tetr... ORPHA:572798
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Obe... ORPHA:98794
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Failure to thrive OMIM:220111
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Communicating hydrocephalus, Dystonia, Poor motor coordination, Rigidity, Chorea, Trem... ORPHA:25
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations, Atrophy of the spinal cord ORPHA:99965
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... ORPHA:199351
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Tremor, Hypertonia, Torsion dystonia, Blepharospasm OMIM:128100
Typhoid
Tremor, Ataxia, Hypertonia, Lethargy ORPHA:99745
Developmental And Epileptic Encephalopathy 4
Tremor, Cerebral atrophy, Spastic tetraplegia, Spastic paraplegia OMIM:612164
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Spasticity OMIM:304700
Joubert Syndrome With Renal Defect
Gait disturbance, Tremor, Oculomotor apraxia, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus ORPHA:220497
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Babinski sign, Cerebellar atrophy, Gait disturbance, Fasciculations, Atr... ORPHA:466768
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysmetria, Tremor, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebellar hypoplasia, Diff... ORPHA:502423
Joubert Syndrome
Gait disturbance, Tremor, Oculomotor apraxia, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus ORPHA:475
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942
Ddost-Cdg
Tremor, Oromotor apraxia, Failure to thrive ORPHA:300536
Proximal 16P11.2 Microduplication Syndrome
Tremor, Decreased body mass index, Attention deficit hyperactivity disorder, Failure to thrive ORPHA:370079
Sneddon Syndrome
Tremor, Hemiplegia OMIM:182410
Sialidosis Type 1
Gait disturbance, Myoclonus, Tremor, Ataxia, Slurred speech ORPHA:812
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Neuronal loss in central nervous system... OMIM:601104
Classic Phenylketonuria
Paraplegia, Tremor, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder ORPHA:79254
Joubert Syndrome With Ocular Defect
Gait disturbance, Tremor, Oculomotor apraxia, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus ORPHA:220493
Insulinoma
Paresthesia, Abnormality of pain sensation, Tremor, Increased body weight, Lethargy ORPHA:97279
Amish Nemaline Myopathy
Tremor ORPHA:98902
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Global brain atrophy, Myoclonus, Lower limb spasticity, Stereotypy, Tremor... OMIM:619229
Hyperlysinemia
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Failure to thrive, Tremor, Neck hyp... ORPHA:2203
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Cerebellar atrophy, Rigidity, Frequent falls, Failure to thrive, Abnormality of... ORPHA:254892
Wolfram Syndrome 1
Tremor, Ataxia, Cerebral atrophy OMIM:222300
Niemann-Pick Disease Type C
Clumsiness, Gait disturbance, Dystonia, Axial dystonia, Cataplexy, Frequent falls, Chorea, Myoclo... ORPHA:646
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Fasciculations, Tremor, Parkinsonism, Difficulty walking ORPHA:329478
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Alexander Disease
Gait disturbance, Clonus, Failure to thrive, Chorea, Tremor, Ataxia, Tetraplegia, Hydrocephalus, ... ORPHA:58
Angelman Syndrome
Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Inability to walk, Broad-based gait, ... ORPHA:72
Charcot-Marie-Tooth Disease Type 4B2
Paresthesia, Vocal cord paralysis, Tremor, Distal sensory impairment, Inability to walk, Poor fin... ORPHA:99956
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Tremor, Ataxia, Spastic diplegia, Tetraparesis OMIM:613179
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Failure to thrive, Intention tremor, Tremor, Ataxia OMIM:614052
Japanese Encephalitis
Paralysis, Abnormal pons morphology, Dystonia, Opisthotonus, Weakness due to upper motor neuron d... ORPHA:79139
Tetanus
Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia ORPHA:3299
Joubert Syndrome With Hepatic Defect
Gait disturbance, Tremor, Oculomotor apraxia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Hydro... ORPHA:1454
Alternating Hemiplegia Of Childhood
Dystonia, Rigidity, Choreoathetosis, Failure to thrive, Paroxysmal dyskinesia, Chorea, Tremor, Oc... ORPHA:2131
Early Infantile Epileptic Encephalopathy
Dystonia, Cerebellar atrophy, Choreoathetosis, Failure to thrive, Myoclonus, Tremor, Hyperactivit... ORPHA:1934
12Q14 Microdeletion Syndrome
Tremor, Chiari malformation, Failure to thrive ORPHA:94063
Metachromatic Leukodystrophy
Progressive spasticity, Gait disturbance, Dystonia, Frequent falls, Tremor, Decerebrate rigidity,... ORPHA:512
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Gait disturbance, Dystonia, Cerebellar atrophy, Gait imbalance, Tremor, Ataxia, Spastic diplegia,... OMIM:300966
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia ORPHA:79095
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Stereotypy, Tremor, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:476126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Choreoathetosis, Large for gestational age, Tremor, Spasticity, Cerebral atrophy OMIM:614080
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Abnormality of extrapyramidal motor function, Tremor, Hydrocephalus, Cerebral ... OMIM:277400
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity ORPHA:2828
Pyruvate Carboxylase Deficiency
Dystonia, Cerebellar gliosis, Failure to thrive, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal... ORPHA:3008
Kallmann Syndrome
Gait disturbance, Paraplegia, Tremor, Ataxia, Obesity ORPHA:478
Orofaciodigital Syndrome Type 6
Gait disturbance, Failure to thrive, Tremor, Ataxia, Cerebellar vermis hypoplasia ORPHA:2754
Dpagt1-Cdg
Failure to thrive, Global brain atrophy, Tremor, Stereotypical body rocking, Hypertonia, Ataxia, ... ORPHA:86309
Chediak-Higashi Syndrome
Tremor, Ataxia, Gait disturbance, Neurodegeneration OMIM:214500
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Failure to thrive OMIM:251100
Serotonin Syndrome
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia ORPHA:43116
Oculopharyngodistal Myopathy 1
Weight loss, Tremor, Ataxia, Brain atrophy, Difficulty walking OMIM:164310
Chédiak-Higashi Syndrome
Gait disturbance, Cerebellar atrophy, Atrophy of the spinal cord, Tremor, Ataxia, Inability to wa... ORPHA:167
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Tremor, Hypertonia, Parkinsonism, Oculogyric crisis ORPHA:1578
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, A... OMIM:612199
Tick-Borne Encephalitis
Paralysis, Abnormality of the medulla oblongata, Speech apraxia, Tremor, Incoordination, Hyperkin... ORPHA:297
Triosephosphate Isomerase Deficiency
Tremor, Dystonia, Unsteady gait, Spasticity OMIM:615512
Ataxia-Telangiectasia
Dystonia, Choreoathetosis, Myoclonus, Tremor, Ataxia OMIM:208900
Aicardi-Goutières Syndrome
Dystonia, Arrhinencephaly, Degeneration of the striatum, Abnormality of extrapyramidal motor func... ORPHA:51
Thyrotoxic Periodic Paralysis
Paralysis, Weight loss, Respiratory paralysis, Tremor, Tetraplegia, Periodic hypokalemic paresis,... ORPHA:79102
African Trypanosomiasis
Involuntary movements, Paralysis, Gait disturbance, Impaired proprioception, Paresthesia, Choreoa... ORPHA:3385

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 Srrm3

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 Srrm3.

No publications found that use IMPC mice or data for Srrm3.

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MGI Allele Allele Type Produced
Srrm3tm111285(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Srrm3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Srrm3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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