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 4.05×10-26
abnormal ear morphology Kcnma1em1(IMPC)H HOM Early adult 1.51×10-08
increased circulating alkaline phosphatase level Kcnma1em1(IMPC)H HOM Early adult 3.05×10-08
abnormal locomotor behavior Kcnma1em1(IMPC)H HOM Early adult 1.68×10-07
decreased spleen weight Kcnma1em1(IMPC)H HOM Early adult 4.57×10-06
tremors Kcnma1em1(IMPC)H HOM Early adult 1.37×10-06

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
Ataxia, Dystonia OMIM:618729
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) ORPHA:79137
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) OMIM:609446
Zimmermann-Laband Syndrome
Large fleshy ears, Thickened ears, Sensorineural hearing impairment ORPHA:3473
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges OMIM:618596

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... OMIM:615625
Spastic Paraplegia 83, Autosomal Recessive
Babinski sign, Spastic paraplegia, Unsteady gait, Gait ataxia, Urinary urgency, Paresthesia, Myal... OMIM:619027
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Spastic Paraplegia 19, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... OMIM:604805
Spastic Paraplegia 37, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... OMIM:611945
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... ORPHA:100994
Spastic Paraplegia 13, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... OMIM:605280
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder,... ORPHA:101007
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Spastic Paraplegia 8, Autosomal Dominant
Lower limb spasticity, Low back pain, Urinary incontinence, Babinski sign, Impaired vibration sen... OMIM:603563
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Urinary incontinence, Parkinsonism, Babinski sign, Impaired vibrat... OMIM:604187
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impaired vibration sensa... OMIM:607565
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction, Limb ataxia, Gait ataxia ORPHA:284282
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Impaired vibrati... OMIM:600363
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
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
Spastic Paraplegia 36, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... OMIM:613096
Spastic Paraplegia 4, Autosomal Dominant
Lower limb spasticity, Low back pain, Urinary incontinence, Aggressive behavior, Babinski sign, I... OMIM:182601
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Ataxia, Functional abnormality of the bladder, Babinski sign, Limb ataxia,... ORPHA:488594
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Urinary urgency, Ankle clonus, Spasticity, Urinary ... ORPHA:100985
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... OMIM:616907
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Urinary incontinence, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dy... OMIM:617145
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Urinary incontinence, Tremor, Sensorineural hearing impairment, Babinski sign, Imp... ORPHA:447753
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Spastic para... OMIM:613647
Spastic Paraplegia 3, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Impaired vibration sensation in the l... OMIM:182600
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Bowel incontinence, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykin... ORPHA:93256
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Myoclonus, U... ORPHA:306511
Autosomal Spastic Paraplegia Type 72
Postural tremor, Rigidity, Memory impairment, Urinary bladder sphincter dysfunction, Spastic gait... ORPHA:401849
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Urinary incontinence, Spast... ORPHA:100988
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Lower limb spasticity, Urinary incontinence, Babinski sign, Impair... OMIM:607259
Spastic Paraplegia 31, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Urinary urge... OMIM:610250
Spinocerebellar Ataxia 48
Ataxia, Urinary incontinence, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Urinary incontinence, Clonus, Babinski sign, Impaired vibration sensation ... ORPHA:100989
Spastic Paraplegia 27, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Impaired v... OMIM:609041
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Babinski sign, Impaire... OMIM:614409
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Urinary incontinence, Progressive spastic paraparesis, Babinski sign, Impa... ORPHA:444099
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Unsteady gait, Abnormal pyramidal sign, Bab... OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Impaired distal vib... OMIM:616688
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 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Spastic paraplegia, Spastic gait OMIM:613364
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaire... OMIM:604360
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, Urinary incontinence,... ORPHA:320391
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 120
Sensorineural hearing impairment OMIM:620238
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 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, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, 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, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
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 Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
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 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, 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
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Urinary incontinence, Impaired distal proprioception, Impaired temperature... ORPHA:320365
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary retention, Impai... ORPHA:447760
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Aggressive behavior, Rigidity, Chor... OMIM:607136
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... ORPHA:37202
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Spastic Paraplegia 16, X-Linked
Lower limb spasticity, Restlessness, Urinary incontinence, Babinski sign, Spastic paraplegia, Tet... OMIM:300266
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... ORPHA:206583
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary incontinence, Parkinson... OMIM:300623
Sandhoff Disease, Juvenile Form
Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Gait disturbance, Fascicul... ORPHA:309162
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Bowel in... ORPHA:171629
Perineural Cyst
Urinary incontinence, Dissociated sensory loss, Neurogenic claudication, Retrograde ejaculation, ... ORPHA:65250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Inappropriate b... OMIM:600795
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Urinary incontinence, Impaired ... OMIM:619686
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Urinary incontinence, Impaired distal proprioception, Sen... OMIM:270800
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, Impaired ... ORPHA:100993
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Unsteady gait,... ORPHA:98
Spinocerebellar Ataxia 10
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysphagia, Limb ata... OMIM:603516
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred speech, Limb ataxia, C... ORPHA:98772
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Sensorineural hearing impairment, Babinski s... OMIM:613206
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Br... ORPHA:100984
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Babinski sign, Spastic... OMIM:612319
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Urinary incontinence, Clonus,... OMIM:609727
3-Methylglutaconic Aciduria, Type I
Ataxia, Urinary incontinence, Spastic tetraplegia, Athetosis, 3-Methylglutaconic aciduria, Spasti... OMIM:250950
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Intellectual Developmental Disorder, X-Linked 29
Sensorineural hearing impairment, Babinski sign, Testicular dysgenesis, Urinary incontinence OMIM:300419
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Urinary incontinence, Sensorineural hearing impairment, Babinski sign, Imp... ORPHA:352641
Huntington Disease-Like 3
Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign,... OMIM:604802
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence, Spastic tetraparesis, Babinski sign, Gait ataxia, Dysphagia, Loss of ambula... OMIM:249900
Glutathionuria
Urinary incontinence, Tremor, Gray matter heterotopia, Dysdiadochokinesis, Glutathionuria, Action... OMIM:231950
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Hearing impairment, Gait ataxia ORPHA:217012
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Urinary urgency, Progressive cerebellar ataxia, Spastic d... ORPHA:314603
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Paresthes... OMIM:186700
Chiari Malformation Type I
Lower limb spasticity, Urinary incontinence, Neck pain, Unsteady gait, Babinski sign, Gait ataxia... OMIM:118420
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance OMIM:603472
Adrenoleukodystrophy
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... OMIM:300100
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidi... OMIM:183090
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Clonus, Aggressive behavior, Choreoathetosis, 3-Methylglutaric aciduria, 3-... OMIM:617698
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Babinski sign, Gait ataxia, Urinary urgency, Progressive cerebellar atax... ORPHA:101111
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Urinary incontinence, Spastic paraplegia, Distal sensory impairment, Gait dis... OMIM:263570
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 13
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Gait ataxia,... ORPHA:98768
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Urinary incontinence, Myoclonus, Spasticity, Pachygyria OMIM:620094
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Inability to walk, Urinary incontinence OMIM:620368
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Ankle clonus, Urinar... OMIM:610357
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Bowel incontinence, Cho... ORPHA:157946
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Urinary urgency, Bradykine... OMIM:618418
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase, Hearing impairment OMIM:614369
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraple... OMIM:616586
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Sensorineural hearing impairm... ORPHA:464282
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Inability to walk, Chorea, Right bundle branch block, Pollakisuria, Tip-toe gait, R... ORPHA:268
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Clonus, Aggressive behavior, 3-Methylglutaconic aciduria, Spasticity, Failu... ORPHA:505216
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Tetraplegia, Dysphagia OMIM:607225
Multiple Sclerosis, Susceptibility To
Incoordination, Urinary incontinence, Paresthesia, Spasticity, Urinary hesitancy OMIM:126200
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, S... OMIM:270700
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,... ORPHA:98760
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Hand tremor, Dys... ORPHA:289560
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... ORPHA:206448
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Urinary incontinence, Bowel incontinence OMIM:236690
Charcot-Marie-Tooth Disease, Type 4B3
Loss of ambulation, Gait disturbance, Urinary incontinence, Distal sensory impairment OMIM:615284
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Urinary incontinence, Parkinsonism, Bowel incontinence, Tremor, Inability to walk, Rigidity, Head... OMIM:618877
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance... ORPHA:363710
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Foix-Alajouanine Syndrome
Back pain, Low back pain, Neurogenic bladder, Somatic sensory dysfunction, Urinary incontinence, ... ORPHA:79093
Pudendal Neuralgia
Back pain, Dyspareunia, Somatic sensory dysfunction, Abdominal colic, Dysuria, Vulvodynia, Episod... ORPHA:60039
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Ataxia, Urinary incontinence, Bowel incontinence, Rigidity, Gait apraxia, Abnormal... OMIM:600142
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Tetraplegia ORPHA:100997
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... ORPHA:100999
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Urinary incontinence, Rigidity, Babinski sign, Dysphagia,... ORPHA:75567
Epilepsy, Progressive Myoclonic 7
Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Mental deterioration OMIM:616187
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Spinocerebellar Ataxia Type 42
Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G... ORPHA:458803
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... ORPHA:247234
Siddiqi Syndrome
Sensorineural hearing impairment, Urinary incontinence OMIM:618635
Baralle-Macken Syndrome
Inability to walk, Spasticity, Urinary incontinence, Obesity OMIM:619255
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... ORPHA:308
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Aggressive behavior, Babinski sign, Inappropriate behavior, Gait disturbanc... OMIM:221770
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu... OMIM:615491
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Urinary incontinence, Babinski sign, Impaired vibration sensation in the l... ORPHA:171617
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffma... OMIM:601162
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... OMIM:239500
Amyotrophic Lateral Sclerosis 2, Juvenile
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Spastic tetraparesis, Head titubatio... OMIM:205100
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Frontotemporal dementia, Functional abnormal... ORPHA:100996
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal... OMIM:276880
Marchiafava-Bignami Disease
Ataxia, Urinary incontinence, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia... ORPHA:221074
Unilateral Focal Polymicrogyria
Urinary incontinence, Aggressive behavior, Spastic hemiparesis, Hemiparesis, Poor fine motor coor... ORPHA:268947
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Parkinsonism, Head titubation, Inabi... ORPHA:300605
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Functional abnormality of the bladder, Gait ataxia, Progres... DECIPHER:45
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... OMIM:615768
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injuri... OMIM:613670
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, Progressive cerebellar ataxia, D... OMIM:618868
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifocal epileptiform ... ORPHA:599373
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Clumsiness, Focal dys... ORPHA:216873
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower ... ORPHA:171612
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Broad-based gait, Ataxia, Urinary incontinence, Impaired vibr... OMIM:609033
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder, Ataxia, Spastic paraplegia OMIM:620379
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Loss of ambu... OMIM:611390
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, Bruxism, A... OMIM:619150
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign,... ORPHA:88644
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Urocanic Aciduria
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... ORPHA:210128
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... ORPHA:466722
Autosomal Recessive Frontotemporal Pachygyria
Pachygyria, Urinary incontinence ORPHA:329329
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... ORPHA:225147
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity OMIM:602099
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality of extrapyramidal mo... OMIM:615362
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsines... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
X-Linked Charcot-Marie-Tooth Disease Type 6
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Hand tremor... ORPHA:352675
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Myotonia, Writer's cramp, Fatigable weakness of distal limb muscles, Impaired ... ORPHA:324442
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Dementia, Gait disturbance, Cons... OMIM:616710
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Decreased body weight, Ataxia, Urinary incontinence, Bowel incontinence, Loss of ability to walk ... OMIM:300243
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, ... OMIM:105210
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Urinary urgency... OMIM:601338
Spinocerebellar Ataxia Type 28
Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Intellectual Developmental Disorder, Autosomal Recessive 70
Severe temper tantrums, Urinary incontinence, Attention deficit hyperactivity disorder OMIM:618402
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Tremor, Rigidity, Postnatal... ORPHA:391417
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... OMIM:618387
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Limb dystonia, Intermittent diarrhea, Hypertrophic cardiomyopathy OMIM:620270
Spastic Paraplegia 84, Autosomal Recessive
Impaired vibratory sensation, Hoffmann sign, Babinski sign, Spastic paraplegia, Urinary urgency, ... OMIM:619621
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Encopresis, Clumsiness, Enuresis, ... ORPHA:66624
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Somatic sensory dysfunction, Hyperactivity, Paralysis, Aggres... ORPHA:43
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Myotonia, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Spastic/hyperactive bladde... ORPHA:137898
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe ga... ORPHA:309256
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Demen... OMIM:604326
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency, Lower limb spasticity, Bradykinesia, Attention deficit hyperactivity disorder OMIM:618878
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Step... OMIM:609260
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... OMIM:616640
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Macrotia, Waddling gait OMIM:616269
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dementia, Dystonia OMIM:605909
Spinocerebellar Ataxia 25
Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Urinary urgency, Oculo... OMIM:608703
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph... OMIM:256731
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation... ORPHA:99013
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity ORPHA:101075
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... ORPHA:684
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypsarrhythmia OMIM:619561
Autosomal Dominant Spastic Paraplegia Type 10
Lower limb spasticity, Parkinsonism, Spastic paraparetic gait, Impaired distal vibration sensatio... ORPHA:100991
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... OMIM:616291
Metachromatic Leukodystrophy
Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Addictive behavior, Lim... ORPHA:512
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Urinary incontinence, Impaired temperature sensation, Impaired proprioception... OMIM:243000
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Impaired pro... ORPHA:95
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Episodic Ataxia Type 1
Myotonia, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia, Nausea ORPHA:37612
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Urinary bladder sphincter dysfunction, Pain, Sciatica ORPHA:231445
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Failure to thrive, Steroid-dependent nephrotic syndrome, Ur... OMIM:300912
Spastic Paraplegia Type 2
Ataxia, Bowel incontinence, Babinski sign, Spastic/hyperactive bladder, Abnormality of extrapyram... ORPHA:99015
Peroxisome Biogenesis Disorder 14B
Hydrocele testis, Progressive hearing impairment, Urinary incontinence OMIM:614920
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age, Spastic paraplegia OMIM:300076
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Babinski sign, Dysmetr... ORPHA:98761
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, ... OMIM:261630
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... ORPHA:2590
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Urinary incontinence, Bowel incontinence OMIM:105300
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Myalgia, Fasciculation... ORPHA:329478
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Adrenomyeloneuropathy
Female sexual dysfunction, Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Dysesthe... ORPHA:139399
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance ORPHA:101078
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Urinary incontinence, Bowel incontinence ORPHA:168782
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment OMIM:165300
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Metachromatic Leukodystrophy
Ataxia, Urinary incontinence, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait distu... OMIM:250100
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... OMIM:617916
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thr... OMIM:615010
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... OMIM:613280
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... OMIM:619028
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Menorrhagia, Urinary retention, Oligom... ORPHA:2795
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Mental deterioration, M... ORPHA:240085
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... ORPHA:206443
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Dysp... OMIM:607346
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... OMIM:619470
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... OMIM:146500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Sneddon Syndrome
Tremor, Chorea, Nephropathy, Hemiparesis, Intracranial hemorrhage, Hypertension, Dementia, Mental... ORPHA:820
Episodic Ataxia, Type 2
Myotonia, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia OMIM:108500
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Spasticity, Urinary incontinence OMIM:613115
Neuropathy, Hereditary Sensory And Autonomic, Type V
Impaired vibratory sensation, Low back pain, Pain insensitivity, Urinary incontinence, Impaired t... OMIM:608654
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Urinary bl... OMIM:164400
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, B... ORPHA:309263
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... OMIM:618049
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Poor coordination, Limb ataxi... OMIM:617695
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Cardiac arrest OMIM:618951
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Chorea, Babinski sign, Clumsiness, Progressive spastic ... ORPHA:309271
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... OMIM:301310
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... OMIM:614307
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Speech apraxia, Myotonia, Bundle branch block, First degree a... ORPHA:589821
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Tremor, Rigi... OMIM:234200
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Ba... OMIM:270550
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Myotonia, Bowel incontinence, Congestive heart f... ORPHA:682
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Sensorineural hearing impairment, Distal sensory impairment, Urinary urgenc... OMIM:606071
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Urinary urgency, Bradykinesia, Dementia, Gait ... OMIM:168601
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Machado-Joseph Disease
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... OMIM:109150
Myopathy, Myofibrillar, 7
Urinary incontinence, Bowel incontinence, Enuresis nocturna, Myalgia, Difficulty walking, Dysphagia OMIM:617114
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Spastic paraplegia, Upper limb... OMIM:615033
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Urinary incontinence, Dysesthesia, Neck pain, Babinski sign, Vocal c... ORPHA:268882
Subacute Inflammatory Demyelinating Polyneuropathy