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Gene: Kcnma1 MGI:99923

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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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Kcnma1em1(IMPC)H HOM Early adult 1.68×10-07
abnormal gait Kcnma1em1(IMPC)H HOM Early adult 4.05×10-26
tremors Kcnma1em1(IMPC)H HOM Early adult 1.37×10-06
abnormal ear morphology Kcnma1em1(IMPC)H HOM Early adult 1.51×10-08
decreased spleen weight Kcnma1em1(IMPC)H HOM Early adult 5.91×10-06
increased circulating alkaline phosphatase level Kcnma1em1(IMPC)H HOM Early adult 3.14×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
EEG with spike-wave complexes (>3.5 Hz), Paroxysmal dyskinesia OMIM:609446
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
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Urinary... OMIM:615625
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... OMIM:160120
Spastic Paraplegia 19, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... OMIM:604805
Spastic Paraplegia 37, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait... OMIM:611945
Autosomal Dominant Spastic Paraplegia Type 13
Impaired vibration sensation in the lower limbs, Urinary incontinence, Abnormal pyramidal sign, U... ORPHA:100994
Spastic Paraplegia 13, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... OMIM:605280
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Sensorineural hearing impairment, Dysdiadochokinesis, Spa... ORPHA:101007
Deafness-Oligodontia Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo ORPHA:3230
Spastic Paraplegia 83, Autosomal Recessive
Gait ataxia, Paresthesia, Urinary urgency, Spastic paraplegia, Myalgia, Babinski sign, Unsteady gait OMIM:619027
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Recessive 48
Abnormal vestibular function, Profound sensorineural hearing impairment OMIM:609439
Spastic Paraplegia, Ataxia, And Mental Retardation
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... OMIM:607565
Spastic Paraplegia 10, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... OMIM:604187
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... 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
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia, Urinary bladder sphincter dysfunction ORPHA:284282
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 8, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... OMIM:603563
Spastic Paraplegia 36, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Spastic gait, Urinary urge... OMIM:613096
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral 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
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Autosomal Recessive Spastic Paraplegia Type 76
Gait ataxia, Ankle clonus, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Functional ... ORPHA:488594
Usher Syndrome, Type Ic
Vestibular hypofunction, Congenital sensorineural hearing impairment OMIM:276904
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Impaired vibration sensation at ankles, Ankle clonus, Urinary bladder sphincter dysfu... ORPHA:100985
Spastic Paraplegia 76, Autosomal Recessive
Gait ataxia, Urinary incontinence, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Difficul... OMIM:616907
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxi... OMIM:617145
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Autosomal Dominant Spastic Paraplegia Type 9A
Impaired vibration sensation in the lower limbs, Urinary incontinence, Abnormal pyramidal sign, S... ORPHA:447753
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence, Tip-toe gait, Spastic gait, Parkinsonism, Ataxia, Spastic paraplegia, Spast... OMIM:613647
Spastic Paraplegia 3, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... OMIM:182600
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Postural tremor, Gait disturbance, Spastic paraplegia, Babinski sign, Lower... ORPHA:100988
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Spas... ORPHA:306511
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Urinary bladder sphincter dysfunction, Postural tremor, S... ORPHA:401849
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Hypotension, Pollakisuria, Urinary bladder sphincter dysfunction, Parkinsonism, Rigi... ORPHA:93256
Autosomal Dominant Spastic Paraplegia Type 8
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... ORPHA:100989
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence, Sensorineural hearing impairment, Spastic gait, Upper limb spasticity, Spas... OMIM:613206
Spastic Paraplegia 27, Autosomal Recessive
Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Spastic/hyperactive bl... OMIM:609041
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... ORPHA:444099
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait... OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Abnormal pyramidal sign, ... 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 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 gait, Spastic paraplegia OMIM:613364
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 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, 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, 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Spastic Paraplegia 7, Autosomal Recessive
Gait ataxia, Impaired vibration sensation in the lower limbs, Urinary incontinence, Spastic ataxi... OMIM:607259
Autosomal Dominant Spastic Paraplegia Type 36
Progressive spastic paraplegia, Urinary incontinence, Impaired distal vibration sensation, Spasti... ORPHA:320365
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Truncal at... ORPHA:320391
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Autosomal Recessive Spastic Paraplegia Type 9B
Impaired vibration sensation at ankles, Spasticity, Tip-toe gait, Pollakisuria, Spastic gait, Uri... ORPHA:447760
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... OMIM:182601
Interstitial Cystitis
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Nocturia, Abnormality of the b... ORPHA:37202
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Urinary incontinence, Impaired distal vibration ... OMIM:604360
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Abnormal vestibular function OMIM:607821
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity... OMIM:213600
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spastic Paraplegia 31, Autosomal Dominant
Ankle clonus, Spastic gait, Urinary urgency, Spastic paraplegia, Babinski sign, Lower limb spasti... OMIM:610250
Spinocerebellar Ataxia 42
Urinary incontinence, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic at... OMIM:616795
Adult Polyglucosan Body Disease
Urinary incontinence, Spasticity, Abnormal pyramidal sign, Urinary bladder sphincter dysfunction,... ORPHA:206583
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Urinary incontinence, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetr... OMIM:618093
Perineural Cyst
Somatic sensory dysfunction, Impotence, Inability to walk, Low back pain, Anal pain, Male sexual ... ORPHA:65250
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Ankle clonus, Cognitive impairment, Pollakisuria, Dysdiadochokinesis, Enure... ORPHA:171629
Autosomal Dominant Spastic Paraplegia Type 12
Impaired vibration sensation in the lower limbs, Urinary incontinence, Female sexual dysfunction,... ORPHA:100993
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spastic Paraplegia 5A, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Urinary incontinence, Sensorineural hearing impa... OMIM:270800
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Fragile X Tremor/Ataxia Syndrome
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Poor fine motor coordinat... OMIM:300623
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Spinocerebellar Ataxia Type 19/22
Urinary incontinence, Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, ... ORPHA:98772
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Sandhoff Disease, Juvenile Form
Urinary incontinence, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait... ORPHA:309162
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Urinary incontinence, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxi... OMIM:607136
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Ankle clonus, Dysdiadochokinesis, Urinary urgency, Ataxia, Spastic parapleg... OMIM:612319
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Tip-toe gait, Spastic gait, Rigidity, Urinary urgency, Gait disturbance, Babinski s... ORPHA:100984
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence, Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic par... OMIM:619686
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Impotence, Impaired tacti... ORPHA:98
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Shuffling gait, Urinary bladder sphincter dysfunction, Urinary urgency, Spa... OMIM:300266
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Glutathionuria
Urinary incontinence, Gray matter heterotopia, Dysdiadochokinesis, Glutathionuria, Tremor, Action... OMIM:231950
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Hearing impairment ORPHA:217012
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Gait ataxia, Spasticity, Spastic ataxia, Spastic dysarthria, Urinary urgency, Dysmetria, Bilatera... ORPHA:314603
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired vibration sensation in the lower limbs, Gait ataxia, Urinary incontinence, Spasticity, S... ORPHA:352641
Syringomyelia, Noncommunicating Isolated
Gait ataxia, Urinary incontinence, Paresthesia, Babinski sign, Neck pain, Lower limb spasticity, ... OMIM:186700
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:615048
Neuronal Intranuclear Inclusion Disease
Urinary incontinence, Somatic sensory dysfunction, Rigidity, Gait disturbance, Ataxia, Tremor OMIM:603472
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... ORPHA:309169
Spinocerebellar Ataxia 10
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Urinary urgency, ... OMIM:603516
Spinocerebellar Ataxia Type 25
Gait ataxia, Episodic abdominal pain, Spastic dysarthria, Urinary urgency, Babinski sign, Impaire... ORPHA:101111
Polyglucosan Body Neuropathy, Adult Form
Urinary incontinence, Paresthesia, Neurogenic bladder, Gait disturbance, Spastic paraplegia, Tetr... OMIM:263570
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor OMIM:611105
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Postural tremor, Dementia, Difficulty walking, Progressive cerebellar at... ORPHA:85292
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Upper limb spasticity, N... OMIM:609727
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Spastic tetraplegia, Ataxia, Failu... OMIM:250950
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Sensorineural hearing impairment, Babinski sign OMIM:300419
Huntington Disease-Like 3
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal ... OMIM:604802
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Urinary incontinence, Progressive spastic paraparesis... ORPHA:206448
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Falls, Resting tremor, Spastic tetraplegia, Parkinsonism, U... OMIM:617225
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Urinary bladder sphincter dysfunction, Spastic gait, Ataxia, Spastic paraplegia, Ba... OMIM:610357
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment, Mildly elevated creatine kinase OMIM:614369
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency, Upper limb spasticity, Gait disturbance, Limb ataxia, Spastic paraplegia, Babins... OMIM:618418
Huntington Disease-Like 3
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Pro... ORPHA:157946
Spinocerebellar Ataxia 2
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post... OMIM:183090
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence, Spasticity, Myoclonus, Ataxia, Pachygyria OMIM:620094
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Postural tremor,... ORPHA:3115
Adrenoleukodystrophy
Urinary incontinence, Impaired vibration sensation at ankles, Impotence, Hypogonadism, Urinary bl... OMIM:300100
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea, Right bundle branch block, Tip-toe gait, Pollakisuria, Inability to walk, Reduced left ve... ORPHA:268
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Urinary incontinence, Spasticity, Fasciculations, Sensorineural h... ORPHA:464282
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Chiari Malformation Type I
Gait ataxia, Urinary incontinence, Paresthesia, Babinski sign, Neck pain, Tinnitus, Lower limb sp... OMIM:118420
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Spasticity, Paresthesia, Incoordination, Urinary hesitancy OMIM:126200
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... ORPHA:79262
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary bladder sphincter dysfunction, Spastic gait, Urinary urgency, Ataxi... OMIM:270700
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia Type 13
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Urinary urgency, Titubati... ORPHA:98768
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Urinary incontinence, Spastic tetraparesis, Babinski sign OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Loss of ambulation, Distal sensory impairment, Gait disturbance OMIM:615284
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait dist... ORPHA:363710
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence, Gait disturbance OMIM:236690
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Female sexual dysfunction, Urinary incontinence, Paresthesia, Back p... ORPHA:79093
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Urinary incontinence, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Tr... OMIM:618877
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Impaired distal vibration sensation, Spasticity, Urinary retention, Pseudob... OMIM:616586
Pudendal Neuralgia
Episodic abdominal pain, Somatic sensory dysfunction, Back pain, Paresthesia, Impotence, Pollakis... ORPHA:60039
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Autosomal Dominant Spastic Paraplegia Type 19
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Female sexual dy... ORPHA:100999
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Choreoathetosis, Failure to thrive... OMIM:617698
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... ORPHA:2589
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder, Tetraplegia ORPHA:100997
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Tremor, Mental deterioration OMIM:616187
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Gait apraxia, Spasticity, Abnormal pyramidal sign, Rigidity, Low back pain,... OMIM:600142
Spinocerebellar Ataxia Type 8
Gait ataxia, Urinary incontinence, Spasticity, Impotence, Rigidity, Spastic dysarthria, Limb atax... ORPHA:98760
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Dementia, Ata... ORPHA:308
Siddiqi Syndrome
Urinary incontinence, Sensorineural hearing impairment OMIM:618635
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Spasticity, Shuffling gait, Parkinsonism, Rigidity, Gait disturbance, Hand ... ORPHA:289560
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ... ORPHA:401901
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Myotonia, A... OMIM:615491
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive, Clonus, Slender... ORPHA:505216
Autosomal Dominant Spastic Paraplegia Type 38
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... ORPHA:171617
Baralle-Macken Syndrome
Urinary incontinence, Spasticity, Obesity, Inability to walk OMIM:619255
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Myopathy, spheroid body
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Spastic Paraplegia 9A, Autosomal Dominant
Gait ataxia, Urinary incontinence, Hoffmann sign, Spastic gait, Resting tremor, Urinary urgency, ... OMIM:601162
Dopa-Responsive Dystonia
Urinary incontinence, Inability to walk, Parkinsonism, Rigidity, Poor coordination, Abnormality o... ORPHA:255
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Myoclonus, Gait disturbance, Babinski sign OMIM:600795
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Autosomal Recessive Spastic Paraplegia Type 15
Frontotemporal dementia, Spasticity, Cognitive impairment, Pseudobulbar paralysis, Upper limb spa... ORPHA:100996
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait OMIM:617917
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of a... ORPHA:521406
Spinocerebellar Ataxia Type 42
Gait ataxia, Urinary incontinence, Impaired vibration sensation at ankles, Impotence, Spastic gai... ORPHA:458803
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremo... OMIM:615768
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... OMIM:614018
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... ORPHA:247234
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Urinary incontinence, Paresthesia, Sensorineural hearin... ORPHA:101085
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Elevated circulating creatin... ORPHA:276435
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... ORPHA:306692
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Hyper... OMIM:615924
Autosomal Dominant Spastic Paraplegia Type 37
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Ur... ORPHA:171612
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Urinary incontinence, Spasticity, Tip-toe gait, Spasticity of facial muscles, Spasti... OMIM:205100
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dy... OMIM:612126
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Spasticity, Ankle clonus, Clumsiness, Gait disturbance, Upper motor neuron ... ORPHA:88644
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired vibration sensation in the lower limbs, Urinary incontinence, Recurrent urinary tract in... OMIM:609033
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Parkinsonism, Rigidity, Limb d... ORPHA:216873
Spastic Paraplegia 26, Autosomal Recessive
Tip-toe gait, Spastic gait, Urinary urgency, Upper limb spasticity, Ataxia, Spastic paraplegia, B... OMIM:609195
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Urinary incontinence, Retrocollis, Tip-toe gait, Inability to walk, Spastic diplegia, Par... ORPHA:300605
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Spasticity, Impotence, Hemiparesis, Ataxia, Paraplegia, Tremor, Hearing imp... OMIM:105210
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Neurogenic bladder, Urinary urgency, Ataxia, Dysmetria, ... OMIM:611390
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration,... ORPHA:210128
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... OMIM:613608
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Urinary bladder sphincter dysfunct... ORPHA:320401
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence, Pachygyria ORPHA:329329
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Poor fine motor coordination, EEG with generalized slow activity grade 4, Spasticity, Cog... ORPHA:79263
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence, Spasticity, Abnormal pyramidal sign, Babinski sign, Fasciculations OMIM:602099
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Primary Progressive Freezing Gait
Urinary incontinence, Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Babinski sign, D... ORPHA:75567
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Impaired vibration sensation in the lower limbs, Percussion-induced rapid rolling muscle contract... ORPHA:324442
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Urinary urgency, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxi... OMIM:609270
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Hand tremor, Elevated circulating creatine kinase concentration... ORPHA:352675
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,... ORPHA:98763
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... OMIM:619405
Marchiafava-Bignami Disease
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Limb hypertonia, Hemiparesis, Rigidit... ORPHA:221074
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... ORPHA:101109
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hearing impairment OMIM:312910
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Parkinson Disease 17
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Stepp... OMIM:618387
Spastic Paraplegia 84, Autosomal Recessive
Hoffmann sign, Crohn's disease, Cognitive impairment, Tip-toe gait, Ankle clonus, Urinary urgency... OMIM:619621
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Spastic tetraplegia, Babinski sign, Spastic paraplegia, Tetraplegia OMIM:607225
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Babinski sign, Clonus, Bowel incontinence, Progressive cerebellar ataxia OMIM:618868
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Urinary incontinence, Spasticity, Tip-toe gait, Progressive gait ataxia, Clumsiness,... ORPHA:309256
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Spasticity, Apraxia, Myoclonus, Gait disturbance, Babinski sign OMIM:221770
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Dementia, Ataxia, Babinski ... OMIM:615362
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Urinary incontinence, Chorea, Resting tremor, Parkinsonism, Titubation, Gait disturb... ORPHA:225147
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Poor fine motor coordination, Spastic ataxia, Pr... ORPHA:137898
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambula... OMIM:256731
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Myotonia, Myotonia of the upper limb, Periodic hypokalemic paresis, Cold-se... ORPHA:684
Epilepsy, Progressive Myoclonic, 10
Urinary incontinence, Spasticity, Spastic ataxia, Spastic tetraplegia, Myoclonus, Ataxia, Progres... OMIM:616640
Spinocerebellar Ataxia 25
Abolished vibration sense, Urinary urgency, Oculomotor apraxia, Ataxia, Babinski sign, Impaired p... OMIM:608703
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Autosomal Dominant Spastic Paraplegia Type 10
Impaired distal vibration sensation, Ankle clonus, Paresthesia, Parkinsonism, Urinary urgency, Up... ORPHA:100991
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic ... ORPHA:466722
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... OMIM:300423
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor... OMIM:604326
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... ORPHA:391411
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk OMIM:619561
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Gait ataxia, Sensorineural hearing impairment, Truncal ataxia, Urinary urgency, Hemiparesis, Epis... OMIM:601338
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve con... OMIM:609260
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with... OMIM:607876
Paraparetic Variant Of Guillain-Barré Syndrome
Urinary bladder sphincter dysfunction, Paraparesis, Pain, Impaired distal proprioception, Sciatica ORPHA:231445
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Paresthesia, Impaired tactile sensation, Impaired proprioception, Pain inse... OMIM:243000
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Friedreich Ataxia
Gait ataxia, Chorea, Poor fine motor coordination, Spasticity, Gait imbalance, Falls, Inability t... ORPHA:95
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Dysphagia, ... OMIM:261630
Spastic Paraplegia Type 2
Spasticity, Spastic gait, Abnormality of extrapyramidal motor function, Ataxia, Spastic/hyperacti... ORPHA:99015
Adrenomyeloneuropathy
Urinary incontinence, Female sexual dysfunction, Back pain, Progressive spastic paraparesis, Urin... ORPHA:139399
Unilateral Focal Polymicrogyria
Poor fine motor coordination, Urinary incontinence, Hemiparesis, Spastic hemiparesis ORPHA:268947
Immunoneurologic Disorder, X-Linked
Small for gestational age, Functional abnormality of the bladder, Spastic paraplegia OMIM:300076
Episodic Ataxia Type 1
Tip-toe gait, Clumsiness, Poor coordination, Choreoathetosis, Myotonia, Nausea, Hypertonia ORPHA:37612
Metachromatic Leukodystrophy
Chorea, Urinary incontinence, Spastic tetraplegia, Gait disturbance, Ataxia, Babinski sign, Tetra... OMIM:250100
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor ORPHA:101075
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Dementia, Dystonia, Bradykinesia OMIM:605909
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Upper motor neuron dysfunction, Babinski sign, Action tremor... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Macrotia, Inability to walk, Waddling gait OMIM:616269
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence, Spastic paraplegia OMIM:105300
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Urinary incontinence, Loss of ability to walk in first decade, Macrotia, Decreased body weight, H... OMIM:300243
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Limb myoclonus, Sensorineural hearing impairment... ORPHA:2590
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor, Hearing impairment OMIM:165300
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Hepatomegaly, Thrombocytopenia, Dystonia,... OMIM:615010
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Cirrhosis, Increased total iron binding capacity... OMIM:613280
Spinocerebellar Ataxia Type 10
Gait ataxia, Gait imbalance, EEG with generalized epileptiform discharges, Dysdiadochokinesis, Ur... ORPHA:98761
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Xq28 (MECP2) duplication
Gait ataxia, Macrotia, Inability to walk, Progressive spasticity, Failure to thrive, Functional a... DECIPHER:45
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Back pain, Parkinsonism, Myalgia, Tremor, Difficulty walking, Frequent fall... ORPHA:329478
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Spasticity OMIM:613115
Spastic Paraplegia Type 7
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Abnormal pyramidal ... ORPHA:99013
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity ORPHA:101078
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Frequent fa... ORPHA:309263
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Menorrhagia, Oligomenorrhea, Abnormality of the... ORPHA:2795
Spinocerebellar Ataxia 19
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Tremor, Freque... OMIM:616719
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, H... ORPHA:1368
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... ORPHA:240094
Sneddon Syndrome
Chorea, Hemiparesis, Hypertension, Intracranial hemorrhage, Dementia, Nephropathy, Tremor, Mental... ORPHA:820
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Loss of ambula... OMIM:617916
Episodic Ataxia, Type 2
Paresthesia, Myotonia, Episodic ataxia, Progressive cerebellar ataxia, Dystonia OMIM:108500
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence, Abnormal repetitive mannerisms ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... OMIM:618587
Metachromatic Leukodystrophy, Adult Form
Chorea, Urinary incontinence, Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Pro... ORPHA:309271
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... ORPHA:240103
Saccharopinuria
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... ORPHA:3124
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Metachromatic Leukodystrophy
Urinary incontinence, Tip-toe gait, Progressive spasticity, Gait disturbance, Impaired continence... ORPHA:512
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Tremor, Neo... ORPHA:79234
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... ORPHA:397946
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Gait d... ORPHA:101077
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Impotence, Parkinsonism, Rigidity, Urinary urgency, Ataxia, Babinski sign, ... OMIM:146500
Spinocerebellar Ataxia 1
Truncal ataxia, Babinski sign, Dysphagia, Spasticity, Decreased motor nerve conduction velocity, ... OMIM:164400
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Cognitive impairment, Inability to walk, Writer's cramp, Urinary urgency... OMIM:312080
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Memory impairment, Falls, Rigidity, Parkinsonism with favorable response... ORPHA:240085
Late-Infantile/Juvenile Krabbe Disease
Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Neuromuscula... ORPHA:206443
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Intention tremor, Hypochromic microcytic... OMIM:301310
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest, Tremor, Ataxia OMIM:618951
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Abnormality of the liver, Elevated circulating phytanic acid concentration, Hemipares... OMIM:614307
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
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 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
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Bowel incontinen... ORPHA:2704
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Paresthesia, Cerebral palsy, Gait disturbance, Congestive heart ... ORPHA:682
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... ORPHA:98764
Machado-Joseph Disease
Spasticity, Urinary bladder sphincter dysfunction, Parkinsonism, Truncal ataxia, Rigidity, Abnorm... OMIM:109150
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Progressive hearing impairment OMIM:614920
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Hearing impairment OMIM:620158
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Vocal cord paresis, Dist... OMIM:606071
Spastic Ataxia, Charlevoix-Saguenay Type
Impaired vibration sensation in the lower limbs, Spasticity, Spastic ataxia, Falls, Spastic gait,... OMIM:270550
Cln5 Disease
Spasticity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Multifo... ORPHA:228360
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... OMIM:615127
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Sandhoff Disease
Episodic abdominal pain, Urinary incontinence, Spasticity, Exaggerated startle response, Impotenc... OMIM:268800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Urinary bladder sphincter d... ORPHA:64753
Acetazolamide-Responsive Myotonia
Gait disturbance, Myotonia, Hypertonia, Dysphagia ORPHA:99736
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... OMIM:612716
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O... OMIM:208920
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... ORPHA:206594
Congenital-Onset Steinert Myotonic Dystrophy
Poor fine motor coordination, Gastroesophageal reflux, Diarrhea, Bundle branch block, Myotonia, C... ORPHA:589821
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... OMIM:612067
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Myoclonus, Gait disturba... OMIM:168601
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Decreased motor nerve conduction velocity, Paraparesis, Gait disturbance, Hand trem... OMIM:302800
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Spasticity, Tip-toe gait, Ankle clonus, Inability to walk, Parkinsonism, Limb ... OMIM:617013
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Hy... ORPHA:96
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Spasticity, Blepharospasm, Bradykinesia, Abnormal pyramidal sign, Akinesia,... OMIM:234200
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:213200
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia, EEG abnormality OMIM:617831
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Ataxia, Mildly elevated creatine kinase, Progressive extrapyramidal movem... ORPHA:401768
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Brody Disease
Somatic sensory dysfunction, Myotonia, Percussion myotonia, Fasciculations OMIM:601003
Acute Transverse Myelitis
Somatic sensory dysfunction, Urinary incontinence, Back pain, Paresthesia, Urinary bladder sphinc... ORPHA:139417
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Recurrent singultus, Paraplegia, Functional abnormality of the bladd... ORPHA:71211
Myotonia Fluctuans
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Spasticity of facial muscles, Myoto... ORPHA:99734
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor OMIM:618090
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Cerebral hemorrhage, Gait disturbance,... ORPHA:542310
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... ORPHA:98755
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Freque... OMIM:159950
Behr Syndrome
Progressive spasticity, Truncal ataxia, Chronic constipation, Gait disturbance, Ataxia, Babinski ... OMIM:210000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cognitive impairment, Dysdiadochokinesis, Resting tremor, Apraxia, Par... OMIM:615157
Porphyria, Acute Intermittent
Urinary incontinence, Paresthesia, Urinary retention, Respiratory paralysis, Dysuria, Abdominal p... OMIM:176000
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Urinary incontinence, Spasticity, Macrotia, Neurogenic bladder, Progressive spasticity, Cataplexy... ORPHA:496641
Cln3 Disease
Memory impairment, Shuffling gait, Urinary bladder sphincter dysfunction, T-wave inversion, Ataxi... ORPHA:228346
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Gait disturbance, Hypertension, Nephropathy, Tremor, Progressive neurologic d... ORPHA:1192
Deafness, Autosomal Recessive 103
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