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Gene: Srrm3 MGI:1920309

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Srrm3 (0 diseases)
Human diseases predicted to be associated with Srrm3 (437 diseases)

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	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
Srrm3^{tm111285(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Srrm3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Srrm3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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