Gene Summary

Name:
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Synonyms:
mSlo1,  5730414M22Rik,  MaxiK,  Slo1,  BK channel alpha subunit,  Slo,  BKCa

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Kcnma1em1(IMPC)H HOM Early adult 6.16×10-26
abnormal locomotor behavior Kcnma1em1(IMPC)H HOM Early adult 4.61×10-07
increased circulating alkaline phosphatase level Kcnma1em1(IMPC)H HOM Early adult 1.72×10-08
decreased exploration in new environment Kcnma1em1(IMPC)H HOM Early adult 1.62×10-05
decreased spleen weight Kcnma1em1(IMPC)H HOM Early adult 4.89×10-06
abnormal ear morphology Kcnma1em1(IMPC)H HOM Early adult 1.65×10-08
tremors Kcnma1em1(IMPC)H HOM Early adult 1.55×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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 Kcnma1 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 Kcnma1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality OMIM:617643
Liang-Wang Syndrome
Dystonia, Ataxia OMIM:618729
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, EEG with spike-wave complexes (>3.5 Hz), Paroxysmal dyskinesia ORPHA:79137
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges OMIM:618596
Non-Specific Syndromic Intellectual Disability
Conductive hearing impairment, Macrotia, Speech apraxia, Hearing impairment, Impaired tandem gait... ORPHA:528084

The table below shows human diseases predicted to be associated to Kcnma1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 12, Autosomal Dominant
Babinski sign, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait,... OMIM:604805
Spastic Paraplegia 19, Autosomal Dominant
Babinski sign, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait,... OMIM:607152
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait,... OMIM:604187
Spastic Paraplegia 37, Autosomal Dominant
Babinski sign, Urinary urgency, Upper limb spasticity, Spastic gait, Lower limb spasticity, Impai... OMIM:611945
Autosomal Dominant Spastic Paraplegia Type 13
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lower limb s... ORPHA:100994
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Impaired vibration sensation at ankles, Spastic/hyperactive bladder, Sensorineural... ORPHA:101007
Spastic Paraplegia 13, Autosomal Dominant
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lower limb s... OMIM:605280
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spa... OMIM:607565
Spastic Paraplegia 83, Autosomal Recessive
Babinski sign, Urinary urgency, Paresthesia, Myalgia, Spastic paraplegia, Gait ataxia, Unsteady gait OMIM:619027
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lowe... OMIM:600363
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo OMIM:600060
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Spastic Paraplegia 8, Autosomal Dominant
Babinski sign, Urinary urgency, Upper limb spasticity, Urinary bladder sphincter dysfunction, Spa... OMIM:603563
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia, Urinary bladder sphincter dysfunction ORPHA:284282
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Spastic Paraplegia 36, Autosomal Dominant
Babinski sign, Urinary urgency, Spastic gait, Lower limb spasticity, Impaired vibration sensation... OMIM:613096
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
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 48
Vestibular dysfunction, Profound sensorineural hearing impairment OMIM:609439
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Spastic Paraplegia 72, Autosomal Recessive
Spastic paraplegia, Babinski sign, Spastic gait, Urinary bladder sphincter dysfunction OMIM:615625
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Autosomal Recessive Spastic Paraplegia Type 76
Babinski sign, Lower limb spasticity, Ataxia, Functional abnormality of the bladder, Ankle clonus... ORPHA:488594
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
Spastic Paraplegia 48, Autosomal Recessive
Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Urinary incontinence, Broad-based gait, S... OMIM:613647
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
Autosomal Dominant Spastic Paraplegia Type 4
Babinski sign, Impaired vibration sensation at ankles, Urinary urgency, Urinary bladder sphincter... ORPHA:100985
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Urinary urgency, Spastic gait, Lower limb spasticity, Progressive spastic parapare... ORPHA:444099
Spastic Paraplegia 80, Autosomal Dominant
Babinski sign, Gait disturbance, Urinary urgency, Ataxia, Spastic paraplegia OMIM:618418
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Clonus, Urinary urgency, Upper limb spasticity, Spastic gait, Lower limb spasticit... ORPHA:100989
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Dysmetria, Lower limb spasticity, Distal sensory impairment, Ataxia, Urinary incon... OMIM:616907
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Urinary urgency, Pollakisuria, Spastic gait, Spastic dysarthria, Falls, Abnormalit... ORPHA:447753
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Urinary incontinence, Im... ORPHA:100988
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 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Spastic Paraplegia 3, Autosomal Dominant
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Paraplegia, Spastic gait, ... OMIM:182600
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Ur... ORPHA:306511
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Urinary bladder sphincter dysf... ORPHA:401849
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Autosomal Dominant Spastic Paraplegia Type 36
Babinski sign, Impaired temperature sensation, Urinary urgency, Impaired distal proprioception, I... ORPHA:320365
Spastic Paraplegia 5A, Autosomal Recessive
Babinski sign, Impaired distal proprioception, Paraplegia, Spastic gait, Lower limb spasticity, L... OMIM:270800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Hearing impairment, Tremor, Oculomotor apraxia, Urinary in... OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Hearing impairment, Distal sensory impairment, Urinary incontinence, Hypertonia, ... OMIM:616688
Spastic Paraplegia 27, Autosomal Recessive
Babinski sign, Impaired vibration sensation at ankles, Spastic/hyperactive bladder, Lower limb sp... OMIM:609041
Spastic Paraplegia 44, Autosomal Recessive
Babinski sign, Upper limb spasticity, Dysmetria, Spastic gait, Lower limb spasticity, Intention t... OMIM:613206
Spastic Paraplegia 41, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary urgency OMIM:613364
Pudendal Neuralgia
Paresthesia, Pollakisuria, Dysuria, Back pain, Dyspareunia, Episodic abdominal pain, Vulvodynia, ... ORPHA:60039
Autosomal Dominant Spastic Paraplegia Type 12
Impaired proprioception, Babinski sign, Clonus, Male sexual dysfunction, Urinary urgency, Spastic... ORPHA:100993
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Hypertension, Dementia, Rigidity, Urinary bladder sphincter dysfunct... ORPHA:93256
Spastic Paraplegia 31, Autosomal Dominant
Babinski sign, Urinary urgency, Spastic gait, Lower limb spasticity, Distal sensory impairment, A... OMIM:610250
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Infertility, Upper limb spasticity, Spastic par... OMIM:614409
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Impaired vibration sensation at ankles, Urinary retention, Spasti... ORPHA:447760
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Babinski sign, Impaired vibration sensation at ankles, Infertility, Up... ORPHA:320391
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Urinary incontinence, Parki... OMIM:618093
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Spastic Paraplegia 4, Autosomal Dominant
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Paraplegia, Spastic gait, ... OMIM:182601
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Urinary urgency, Spastic gait, Spastic ata... OMIM:616795
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type If
Congenital sensorineural hearing impairment OMIM:602083
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 Recessive 113
Sensorineural hearing impairment OMIM:618410
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 Dominant 69
Sensorineural hearing impairment OMIM:616697
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
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Dementia, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait,... OMIM:604360
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Babinski sign, Gait disturbance, Rigidity, Abnormality of extrapyramidal motor function, Ataxia, ... OMIM:600142
Spastic Paraplegia 7, Autosomal Recessive
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Dysmetria, Spastic gait, U... OMIM:607259
Adult Polyglucosan Body Disease
Gait disturbance, Urinary bladder sphincter dysfunction, Abnormality of extrapyramidal motor func... ORPHA:206583
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment OMIM:618295
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Urinary urgency, Urinary hesitancy, Upper limb spasticity, Lower limb spas... OMIM:609727
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romberg sign, Intention ... OMIM:607136
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Abnormality of the menstrual c... ORPHA:37202
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Hand tremor, Steppage gait OMIM:300905
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Perineural Cyst
Paresthesia, Anal pain, Neurogenic claudication, Dissociated sensory loss, Foot pain, Abdominal p... ORPHA:65250
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Urinary inc... ORPHA:98772
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Dystonia, Urinary urgency, Dysmetria, Lower limb spasticity, Spastic tetraparesis,... OMIM:612319
Spastic Paraplegia 16, X-Linked
Babinski sign, Urinary urgency, Urinary bladder sphincter dysfunction, Shuffling gait, Lower limb... OMIM:300266
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Autosomal Dominant Spastic Paraplegia Type 3
Babinski sign, Gait disturbance, Urinary urgency, Rigidity, Frequent falls, Spastic gait, Hyperes... ORPHA:100984
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Hearing impairm... OMIM:300623
Autosomal Recessive Spastic Paraplegia Type 35
Babinski sign, Frequent falls, Dysmetria, Pollakisuria, Enuresis nocturna, Lower limb spasticity,... ORPHA:171629
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment OMIM:124900
Spinocerebellar Ataxia 10
Urinary urgency, Dysmetria, Abnormality of extrapyramidal motor function, Progressive cerebellar ... OMIM:603516
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Urinary urgency, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ... ORPHA:314603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Dysmetria, Lower limb spasticity, Intention tremor, Progressive cerebellar ataxia,... ORPHA:98
Syringomyelia, Noncommunicating Isolated
Babinski sign, Paresthesia, Lower limb spasticity, Urinary incontinence, Neck pain, Unsteady gait... OMIM:186700
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Siddiqi Syndrome
Sensorineural hearing impairment, Urinary incontinence, Limb dystonia OMIM:618635
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Urinary incontinence, Spa... OMIM:604802
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Urinary incontinence, Somatic sensory dysfunction OMIM:603472
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... ORPHA:401901
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... ORPHA:157946
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity OMIM:611105
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Rigidity, Myoclonus, Stereotypy, Urinary incontinence OMIM:600795
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Intellectual Developmental Disorder, X-Linked 29
Sensorineural hearing impairment, Babinski sign, Urinary incontinence OMIM:300419
Spinocerebellar Ataxia Type 25
Babinski sign, Urinary urgency, Impaired distal tactile sensation, Impaired pain sensation, Spast... ORPHA:101111
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Urinary in... OMIM:618877
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Urinary bladder sphincter dysfunction, Dysmetria, Spastic gait, Lower limb spastic... OMIM:610357
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Clonus, Male sexual dysfunction, Urinary urgency, Spastic... ORPHA:100999
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Chiari Malformation Type I
Babinski sign, Paresthesia, Tinnitus, Lower limb spasticity, Hearing impairment, Urinary incontin... OMIM:118420
Adult Krabbe Disease
Clumsiness, Babinski sign, Gait disturbance, Hoffmann sign, Acroparesthesia, Prolonged brainstem ... ORPHA:206448
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Urinary urgency, Dysmetria, Spastic ataxia, Hearing impairment, Spasticity, Gait ataxia... OMIM:611390
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Urinary bladder sphincter dysfunction, Paraparesis, Atten... OMIM:300100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Lower limb spasticity, Sensorineural hearing impairment, Ataxia, Urinary incontinence, ... ORPHA:464282
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
Spastic Paraplegia 15, Autosomal Recessive
Babinski sign, Clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Paraplegia, Spasti... OMIM:270700
Choreoathetosis, Familial Inverted
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign OMIM:118750
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Aggressive be... OMIM:612953
3-Methylglutaconic Aciduria, Type Ix
Clonus, Failure to thrive, Urinary incontinence, Hypertonia, Spasticity, 3-Methylglutaconic aciduria OMIM:617698
Multiple Sclerosis, Susceptibility To
Paresthesia, Urinary hesitancy, Urinary incontinence, Incoordination, Spasticity OMIM:126200
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Urinary incontinence, Gait ataxia OMIM:249900
Roussy-Lévy Syndrome
Clumsiness, Postural tremor, Babinski sign, Urinary bladder sphincter dysfunction, Frequent falls... ORPHA:3115
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetrapare... OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Urinary urgency, Falls, Bradykinesia, Spastic tetraplegia,... OMIM:617225
Spinocerebellar Ataxia Type 13
Clumsiness, Urinary urgency, Torticollis, Myoclonus, Bradykinesia, Hearing impairment, Urinary in... ORPHA:98768
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Dementia, Gait disturbance, Tremor by anatomical site, Cognitive i... ORPHA:98762
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, C... ORPHA:216873
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Urinary incontinence OMIM:615284
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... OMIM:618612
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Foix-Alajouanine Syndrome
Male sexual dysfunction, Gait imbalance, Paresthesia, Urinary retention, Frequent falls, Female s... ORPHA:79093
Autosomal Dominant Spastic Paraplegia Type 37
Babinski sign, Clonus, Urinary urgency, Spastic gait, Lower limb spasticity, Impaired vibration s... ORPHA:171612
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mitochondrial Membrane Protein-Associated Neurodegeneration
Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
3-Methylglutaconic Aciduria, Type I
Athetosis, Dystonia, Failure to thrive, Spastic tetraplegia, Ataxia, Urinary incontinence, Spasti... OMIM:250950
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia 25
Babinski sign, Urinary urgency, Impaired pain sensation, Ataxia, Abolished vibration sense OMIM:608703
Spinocerebellar Ataxia Type 8
Dystonia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Urinary incontinence, Impaired vibr... ORPHA:98760
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Pain, Abnormality of extra... ORPHA:255
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations, Tremor OMIM:615048
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Dysphagia, Spastic gait, Spastic dysarthria, Lo... ORPHA:251282
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Dysphagia, Reduced ejection fraction, Chorea, Pollakisuria, Inability to walk, Tip-toe gait, Righ... ORPHA:268
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Baralle-Macken Syndrome
Dystonia, Urinary incontinence, Inability to walk, Spasticity, Obesity OMIM:619255
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
X-Linked Spastic Paraplegia Type 16
Tetraplegia, Functional abnormality of the bladder ORPHA:100997
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... OMIM:615768
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Urinary incontinence, Bowel incontinence OMIM:236690
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... ORPHA:306692
3-Methylglutaconic Aciduria Type 9
Clonus, Failure to thrive, Slender build, Urinary incontinence, Spasticity, 3-Methylglutaconic ac... ORPHA:505216
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Clonus, Arm dystonia, Opisthotonus, Head titubation, Upper limb spasticity, Axial dysto... ORPHA:300605
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... ORPHA:454887
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 42
Babinski sign, Impaired vibration sensation at ankles, Urinary urgency, Spastic gait, Urinary inc... ORPHA:458803
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety OMIM:159900
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Babinski sign, Gait disturbance, Arm dystonia, Dysmetria, Lower limb spasticity, Fasc... ORPHA:88644
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia, Urinary incontinence, Bowel incontinence OMIM:105300
N-Acetylaspartate Deficiency
Unsteady gait, Decreased body weight, Truncal ataxia, Stereotypy OMIM:614063
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Urinary incontinence, Dysdiado... ORPHA:247234
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Sensorineural hear... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Hand tremor, Absent... ORPHA:101085
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Inability to walk, Stereotypy OMIM:606053
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Hyperphenylalaninemia... OMIM:261630
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Urinary incontinence, Hearing impairment, Spasticity, Im... OMIM:105210
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... ORPHA:101109
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Gait imbalance, Rigidity, Frequent falls, Shuffling gait,... ORPHA:75567
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability, Reticulocytosis OMIM:612126
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Babinski sign, Clonus, Dystonia, Progressive cerebellar ataxia, Urinary incontinence, Bowel incon... OMIM:618868
Autosomal Recessive Spastic Paraplegia Type 15
Gait disturbance, Babinski sign, Dementia, Upper limb spasticity, Pseudobulbar paralysis, Hand tr... ORPHA:100996
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety OMIM:606438
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia, Difficulty walking OMIM:614018
Spastic Paraplegia 26, Autosomal Recessive
Babinski sign, Dystonia, Urinary urgency, Frequent falls, Dysmetria, Spastic gait, Lower limb spa... OMIM:609195
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Positive Romberg sign, Recurrent urinary tract infections, Ataxia, Urina... OMIM:609033
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Urinary bladder sphincter dysfunction, Lower limb spasticity... ORPHA:320401
Chorea, Benign Hereditary
Chorea, Anxiety, Gait disturbance OMIM:118700
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Urinary incontinence, Spasticity, Apraxia OMIM:221770
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Waddling gait, Broad-based gait, Tremor OMIM:182920
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Urinary urgency, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic tetraplegia, Tetraplegia, Urinary incontinence, Spastic paraplegia OMIM:607225
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Hemiparesis, Urinary incontinence, Poor fine motor coordination, Attention d... ORPHA:268947
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Sensorineural he... OMIM:270500
Mental Retardation, Autosomal Recessive 48
Kinetic tremor, Aggressive behavior, Self-mutilation, Macrotia, Inability to walk, Waddling gait OMIM:616269
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Saccharopinuria
Hypercystinemia, Cognitive impairment, Abnormality of circulating enzyme level, Hyperammonemia, T... ORPHA:3124
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Chorea, Bradykinesia, Urinary incontinence, Resting tr... ORPHA:225147
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Ataxia, Hyperactivity, Hyperglycinuria OMIM:239500
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Dementia, Abnormal pyramidal sign OMIM:301840
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spastic Paraplegia 9A, Autosomal Dominant
Babinski sign, Gait disturbance, Urinary urgency, Lower limb spasticity, Urinary incontinence, Im... OMIM:601162
Autosomal Recessive Spastic Paraplegia Type 77
Babinski sign, Dystonia, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... ORPHA:309256
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Dysphagia, Limb fasciculations, Abnormality of the ... ORPHA:90117
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Hearing impairment, Abnormality of ... ORPHA:79234
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
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Epilepsy, Progressive Myoclonic, 10
Myoclonus, Spastic tetraplegia, Spastic ataxia, Progressive cerebellar ataxia, Urinary incontinen... OMIM:616640
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Elevated circulating creatine kinase concentration, Dysmetria, Steppage gait, Tremor, Ataxia, Gai... OMIM:618387
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dysphagia, Dementia, Myoclonic spasms, Interictal EEG abnormality, Dysmetri... ORPHA:79263
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Myotonia, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxia, An... OMIM:615491
Metachromatic Leukodystrophy
Babinski sign, Gait disturbance, Dystonia, Chorea, Spastic tetraplegia, Tetraplegia, Ataxia, Urin... OMIM:250100
Xq28 (MECP2) duplication
Progressive spasticity, Failure to thrive, Macrotia, Stereotypy, Inability to walk, Functional ab... DECIPHER:45
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Dysphagia, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve co... ORPHA:276435
Autosomal Dominant Spastic Paraplegia Type 10
Babinski sign, Spastic/hyperactive bladder, Urinary urgency, Upper limb spasticity, Paresthesia, ... ORPHA:100991
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic/hyperactive bladder, Impaired distal p... ORPHA:137898
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
Spastic Paraplegia 84, Autosomal Recessive
Babinski sign, Hoffmann sign, Urinary urgency, Frequent falls, Cognitive impairment, Crohn's dise... OMIM:619621
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Ataxia, 3-Methylglutaconic aciduria, Spastic paraparesis ORPHA:67047
Autosomal Recessive Frontotemporal Pachygyria
Pachygyria, Urinary incontinence ORPHA:329329
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Fasciculations, Back pain, Tremor, Myalgia, Urinary incontinence, Parkinsonism, B... ORPHA:329478
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign, Wol... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia 19
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... OMIM:607346
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Decreased circulating ferritin concentration, Dementia, Dystonia, Rigidity, Choreo... OMIM:606159
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Marchiafava-Bignami Disease
Gait disturbance, Limb hypertonia, Rigidity, Hemiparesis, Ataxia, Urinary incontinence, Tetrapare... ORPHA:221074
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Spastic Paraplegia Type 2
Babinski sign, Spastic/hyperactive bladder, Spastic gait, Abnormality of extrapyramidal motor fun... ORPHA:99015
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Bradykinesia, Hyperphe... OMIM:261640
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Tremor, Loss of ability to walk, Hemolytic anemia OMIM:615010
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait at... OMIM:616719
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Speech apraxia, Stereotypy, Enuresis, Obesity, Attention deficit hy... OMIM:613670
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Gait disturbance, Myotonia, Paresthesia, Handgrip myotonia, Writer's cramp, Loss of ambulation, F... ORPHA:324442
X-Linked Non-Syndromic Intellectual Disability
Babinski sign, Small for gestational age, Urinary incontinence, Mild neurosensory hearing impairm... ORPHA:777
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Intention tremor, D... ORPHA:309263
Glutathionuria
Tremor OMIM:231950
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Macrotia, Ataxia, Urinary incontinence, Hyperkinetic movements, Truncal ataxia, Bowel incontinenc... OMIM:300243
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Urocanic Aciduria
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Action tremor, Broad-based ... ORPHA:210128
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Metachromatic Leukodystrophy
Progressive spasticity, Gait disturbance, Dystonia, Limb pain, Frequent falls, Pain, Hearing impa... ORPHA:512
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Functional abnormality of the bladder, Small for gestational age OMIM:300076
X-Linked Charcot-Marie-Tooth Disease Type 6
Elevated circulating creatine kinase concentration, Hand tremor, Steppage gait, Sensorineural hea... ORPHA:352675
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Dementia, Rigidity, Urinary bladder sphincter dysfunction, Dysmetria,... OMIM:183090
Adrenomyeloneuropathy
Babinski sign, Male sexual dysfunction, Urinary urgency, Urinary bladder sphincter dysfunction, U... ORPHA:139399
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... ORPHA:99750
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Urinary urgency, Rigidity, Bradykinesia, Tremor, Ataxia, Urinary incontinence, Imp... OMIM:146500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Spasticity OMIM:613115
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Paramyotonia Congenita Of Von Eulenburg
Myotonia, Dysphagia, Myotonia of the upper limb, Percussion myotonia, Handgrip myotonia, Cold-sen... ORPHA:684
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Difficulty walking, Spasticity, Stereotypy OMIM:617393
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Chorea, Progressive gait ataxia, Intention t... ORPHA:309271
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Myoclonus, In... OMIM:254900
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Babinski sign, Steppage gait, Decreased sensory nerve ... OMIM:609260
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... OMIM:612067
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... OMIM:300894
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence, Stereotypy ORPHA:168782
Hsd10 Disease
Gait disturbance, Dysphagia, Rigidity, Choreoathetosis, Abnormal urinary acylglycine profile, Myo... ORPHA:391417
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 30
Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG ... OMIM:607876
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Friedreich Ataxia
Impaired proprioception, Dystonia, Babinski sign, Dysphagia, Gait imbalance, Impaired visually en... ORPHA:95
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Abnormal pyramidal sign, Gait distu... ORPHA:99027
Spinocerebellar Ataxia 7
Babinski sign, Dysphagia, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor... OMIM:164500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Sensorineural he... ORPHA:2590
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Vocal cord paresis, Distal sensory impairment, Sensorineural hearing impairment,... OMIM:606071
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Stereotypy, Hyp... OMIM:609425
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia OMIM:619150
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Fowler Urethral Sphincter Dysfunction Syndrome
Menorrhagia, Oligomenorrhea, Urinary retention, Amenorrhea, Dysuria, Urinary incontinence, Abnorm... ORPHA:2795
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Hear... OMIM:615157
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... OMIM:610245
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Hyper... OMIM:233910
Spinocerebellar Ataxia Type 10
Babinski sign, Kinetic tremor, Gait imbalance, Urinary urgency, Dysmetria, EEG with generalized e... ORPHA:98761
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... ORPHA:3077
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Episodic Ataxia Type 1
Clumsiness, Myotonia, Poor coordination, Choreoathetosis, Nausea, Hypertonia, Tip-toe gait ORPHA:37612
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, EEG with generalized slow activity, Tremor,... ORPHA:228360
Spastic Ataxia, Charlevoix-Saguenay Type
Babinski sign, Urinary urgency, Progressive truncal ataxia, Dysmetria, Spastic gait, Falls, Progr... OMIM:270550
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Gait disturbance, Urinary incontinence, Pseudobulbar paralysis OMIM:125310
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Hemiplegia, EEG with persistent abnor... ORPHA:206443
Spastic Paraplegia Type 7
Babinski sign, Dysphagia, Urinary urgency, Spastic gait, Memory impairment, Impaired vibration se... ORPHA:99013
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Progressive spastic paraplegia, Urinary urgency, Lower limb spasticity ORPHA:320355
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Decreased body weight, Spasti... OMIM:617695
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Sneddon Syndrome
Hypertension, Dementia, Intracranial hemorrhage, Chorea, Hemiparesis, Tremor, Nephropathy, Mental... ORPHA:820
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Abnormality of the pinna, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Cardiac arrest OMIM:618951
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Progressive hearing impairment, Urinary bladder sphincte... ORPHA:43
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Tremor, Inability to walk, Spastic p... ORPHA:101077
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Functional abnormality of the bladder, Ocular pain, Recurrent singultus, Somatic sens... ORPHA:71211
Spinocerebellar Ataxia 1
Impaired proprioception, Decreased motor nerve conduction velocity, Paresthesia, Fasciculations, ... OMIM:164400
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment OMIM:165300
Pandas
Clumsiness, Chorea, Arthralgia, Tics, Enuresis, Attention deficit hyperactivity disorder, Encopresis ORPHA:66624
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Rigidity, Polycythemia, Steppage gait, A... OMIM:613280
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia