Gene Summary

ATPase, Ca++ transporting, plasma membrane 2
wms,  Gena300,  PMCA2,  jog,  Tmy,  D6Abb2e

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 108 images

Human diseases caused by Atp2b2 mutations

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

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

The table below shows human diseases associated to Atp2b2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386

The table below shows human diseases predicted to be associated to Atp2b2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Hearing impairment OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Sensorineural hearing impairment, Somatic sensory dysfunction OMIM:300905
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Tremor OMIM:231950
Ataxia-Deafness-Retardation Syndrome
Ataxia, Progressive sensorineural hearing impairment OMIM:208850
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Spinocerebellar Ataxia Type 31
Hearing impairment, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia OMIM:168885
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia Type 5
Ataxia, Vertigo, Truncal ataxia ORPHA:211067
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Impaired vibration sensation at ankles, Abnormality of somatosensory evoked potent... ORPHA:101007
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Glut1 Deficiency Syndrome 1
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Paroxysmal lethargy, Myoclonus, H... OMIM:606777
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Scissor gait, Sensorineural hearing impairment, Tip-toe gait, Spasticity, Spastic paraplegia ORPHA:101004
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia, Adult onset sensorineural hearing impairment OMIM:212710
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, EEG abnormality, Spasticity, Difficulty walking, ... OMIM:617829
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Spastic Ataxia With Congenital Miosis
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Excessive daytime somnolence, Hearing impairment, Trem... ORPHA:101075
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Sensorineural hearing impa... ORPHA:363710
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Optic atrophy, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair... ORPHA:95433
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Bilateral se... ORPHA:2589
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis, Hearing impairment OMIM:312910
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Hearing impairment, Ataxia, Olivopontocerebellar atrophy, Hypertonia, EEG abnormal... ORPHA:2732
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Sensorine... OMIM:270500
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Sensorineural hearing impairment, Ataxia, Hypogonadism... ORPHA:2815
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Distal sensory impairment, Steppage gait, Vestibular Schwannoma OMIM:613641
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Migraine, Familial Hemiplegic, 1
Drowsiness, Hemiparesis, Tremor, Ataxia, Coma, Hemiplegia, Confusion OMIM:141500
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Ataxia, Spasticity, Abnormality of the ba... ORPHA:99852
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination ORPHA:98766
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gai... OMIM:615768
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... OMIM:617665
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Oromandibular dystonia, Abnormal pyramidal sign, Vestibular dysfunction, Ca... ORPHA:52368
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Sensorineural ... ORPHA:1368
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Hearing impairmen... ORPHA:101078
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairmen... OMIM:165300
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:613608
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor OMIM:300660
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Optic atrophy, Impaired pain sensation, Excessive daytime somnolence, Hearing i... ORPHA:99014
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Ataxia, Slowed slurred speech, Progressive sensorineural hearing impairment OMIM:172500
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated circulating creatine kinase concentration, Motor axonal neuropathy, Hearing impairment, ... OMIM:310490
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... OMIM:610245
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Jerk-locked premyoclonus spikes, Enhancement of the C-reflex OMIM:615127
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Abnormal pyramidal sign, Lethargy OMIM:618224
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Babinski sign, Abnormal pons morphology, Impaired vibration sensation in ... ORPHA:171622
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Sensorineural hearing impairment, Cerebral atrophy, Gait ataxia OMIM:616192
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Distal sensory impairment, Senso... ORPHA:352675
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Aplasia/Hypoplasia of the... ORPHA:231169
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Developmental And Epileptic Encephalopathy 41
Hypsarrhythmia, Inability to walk, EEG abnormality, Spasticity, Lethargy OMIM:617105
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Central Neurocytoma
Babinski sign, Paresthesia, Ataxia, Coma, Pain insensitivity, Tinnitus, Lethargy ORPHA:73256
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:615957
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Ataxia, Cerebellar vermis hypoplasia OMIM:618876
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency OMIM:615889
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Confusion, EEG abnormality, Lethargy OMIM:617900
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Tetraplegia, Microcephaly ORPHA:3465
Arnold-Chiari Malformation Type I
Babinski sign, Functional abnormality of the inner ear, Vocal cord paralysis, Cranial nerve compr... ORPHA:268882
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Hypointensity of cerebral white matter on MRI, Peripheral axonal neuropathy, Hearing im... OMIM:619196
Superficial Siderosis
Paresthesia, Progressive gait ataxia, Abnormal pyramidal sign, Abnormality of the vestibulocochle... ORPHA:247245
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Lethargy OMIM:613710
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Severe sensorineural hearing... OMIM:604213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Urocanic Aciduria
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia ORPHA:210128
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Benign Paroxysmal Torticollis Of Infancy
Drowsiness, Torticollis, Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Hearing impairment, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... OMIM:611252
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Early Myoclonic Encephalopathy
Myoclonus, EEG abnormality, Hypsarrhythmia, Lethargy ORPHA:1935
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Progressive spastic paraplegia, ... ORPHA:401820
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Stereotypy, Inability to walk, Spastic diplegia OMIM:617830
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Peripheral axonal neuropathy, Choreoathetosis, Facial palsy, Absent brainstem auditory responses,... OMIM:617519
Susac Syndrome
Tinnitus, Vertigo, Sensorineural hearing impairment, Upper motor neuron dysfunction, Somatic sens... ORPHA:838
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Confusion, EEG abnormality, Lethargy OMIM:613002
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Gordon Holmes Syndrome
Ataxia, Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Stereotypy OMIM:239500
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Steppage gait, Decreased... OMIM:609260
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Babinski sign, Impaired distal proprioception, Paraplegia, Spastic gait, Lower lim... OMIM:270800
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Chorea, Paroxysmal dyskinesia, Stereotypy, Ataxia, EEG abnormality OMIM:619150
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials OMIM:608105
Adult Krabbe Disease
Clumsiness, Peripheral demyelination, Prolonged brainstem auditory evoked potentials, Hemiplegia,... ORPHA:206448
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity ORPHA:401835
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Cerebellar atrophy, Oromandibular dystonia, Bradykines... OMIM:617013
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment ORPHA:1186
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Hearing impairment, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia OMIM:611694
Usher Syndrome, Type Iiib
Ataxia, Optic disc pallor, Truncal ataxia, Hearing impairment OMIM:614504
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... OMIM:607483
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... OMIM:125250
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Gait disturbance, Onion bulb formation, Cerebellar atr... OMIM:302800
Spinocerebellar Ataxia Type 28
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve conduction ve... ORPHA:276435
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Gait disturbance, Abnormal auditory evoked potentials, Axonal loss, Decreas... OMIM:601455
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Leukoencephalopathy, Spastic dysarthria, Spastic ataxia, Progressive cerebel... ORPHA:314603
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Distal Monosomy 10Q
Cochlear malformation, Clonus, Morphological abnormality of the vestibule of the inner ear, Facia... ORPHA:96148
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements, EEG abnormality OMIM:618218
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, EEG abnormality OMIM:612126
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Sensorineural hearing impairment, Cerebellar atrophy, Spastic tetraparesis, Microcephaly OMIM:618741
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Optic disc pallor, Cerebellar atrophy, Dysmetria, Failure to thrive, Leukoencephalopath... OMIM:617954
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Dystonia, Ataxia, Hypogonadism OMIM:616113
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Spastic parapa... ORPHA:206443
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Classic Galactosemia
Clumsiness, Dystonia, Gait disturbance, Postural tremor, Gait imbalance, Secondary amenorrhea, De... ORPHA:79239
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing, EEG abnormality OMIM:618760
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Gait disturbance, Optic atrophy, Parkinsonism, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal speech discrimination, Hearing impairment, Distal sensory impairment, Abnormal middle ea... OMIM:300614
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Giant somatosensory evoked po... OMIM:607876
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Stereotypy, Hyp... OMIM:609425
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Gait disturbance, Babinski sign, Steppage gait, Distal sensory impairment, Ataxia, Sensorineural ... OMIM:617882
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... ORPHA:401830
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Infertility, Upper limb spasticity, Spastic par... OMIM:614409
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Aplasia/Hypoplasia of the cerebellu... ORPHA:99027
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Hearing impairment, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Leukodystrophy, Hypomyelinating, 6
Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Hearing impairment, Tremor, Ataxia, Spasticity OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... OMIM:617964
Severe Canavan Disease
Optic atrophy, Babinski sign, Decerebrate rigidity, Inability to walk, Spasticity, Lethargy ORPHA:314911
Cyclic Vomiting Syndrome
Hearing impairment, Ataxia, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Dystonia, Gait disturbance, Optic atrophy, Chorea, Myoclonus, Ataxia, Cran... OMIM:617282
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Dopa-Responsive Dystonia
Dystonia, Gait disturbance, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Postural tremor, Dystonia, Gait disturbance, Secondary amenorrhea, Gait imbalance, Oligomenorrhea... ORPHA:352
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Sensorineural he... ORPHA:504476
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Lethargy OMIM:618225
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Spastic ataxia, Hearing impairment,... OMIM:611390
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality OMIM:617836
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Dystonia 24
Torticollis, Oromandibular dystonia, Head tremor, Blepharospasm OMIM:615034
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Aplasia/Hypoplasia... ORPHA:1188
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Infertility, Up... ORPHA:320391
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Impaired p... ORPHA:3115
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Optic atrophy, Secondary amenorrhea, Primary amenorrhea, Spasticity, Premature ... OMIM:603896
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Optic disc pallor, Head titubation, Dysmetria, Intention tremor, Sensorineural hea... OMIM:301790
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia OMIM:617584
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Sensorineural hearing impairment, Tremor, ... ORPHA:2590
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Abnormal pyramidal sign, Lethargy OMIM:618228
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Fascic... ORPHA:397946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired ... OMIM:619092
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... ORPHA:206594
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Tremor, Inability to walk, Spastic p... ORPHA:101077
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, EEG with polyspike wave complexes, Truncal ataxia, Gait ataxia, EEG wi... OMIM:618587
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604187
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26